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
SVIL	6840	broad.mit.edu	37	10	29747363	29747363	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:29747363C>T	ENST00000375398.2	-	39	7007	c.6558_splice	c.e39+1	p.E2186_splice	PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Splice_Site_p.E1100_splice|SVIL_ENST00000375400.3_Splice_Site_p.E1760_splice|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000355867.4_Splice_Site_p.E2186_splice|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA			O95425	SVIL_HUMAN	supervillin	2186	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AACCGCTTACCTCGAAGTCTT	0.597000													83	108					0	0	0.000781405	0	0
CHRD	8646	broad.mit.edu	37	3	184100547	184100547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:184100547G>A	ENST00000204604.1	+	8	1213	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	CHRD_ENST00000450923.1_Missense_Mutation_p.E323K|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.E323K|CHRD_ENST00000545352.1_5'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	323	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGCTGCTGGAACCCAGGAG	0.592000													260	437					0	0	0.000781405	0	0
TGFBR3	7049	broad.mit.edu	37	1	92195501	92195501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:92195501C>T	ENST00000212355.4	-	6	1063	c.598G>A	c.(598-600)Ggg>Agg	p.G200R	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.G200R|TGFBR3_ENST00000525962.1_Missense_Mutation_p.G200R	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	200					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AAATTCTTCCCTATGTTGCAC	0.478000													49	55					0	0	0.000781405	0	0
VPS37A	137492	broad.mit.edu	37	8	17132466	17132466	+	Splice_Site	SNP	C	C	T	rs145870117		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:17132466C>T	ENST00000324849.4	+	5	1315	c.642_splice	c.e5+1	p.P214_splice	VPS37A_ENST00000521829.1_Splice_Site_p.P189_splice	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	214					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GCTTCAATACCGGTTGGTATC	0.428000													62	116					0	0	0.000781405	0	0
KHK	3795	broad.mit.edu	37	2	27320408	27320408	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:27320408G>T	ENST00000260599.6	+	5	968	c.455G>T	c.(454-456)cGg>cTg	p.R152L	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.R152L	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	152					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	p.R152Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCTGCAGCGGATAGACGCA	0.612000													10	534					0.000442599	0.00615569	0.000442599	1	0
KCNB1	3745	broad.mit.edu	37	20	47991500	47991500	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:47991500G>A	ENST00000371741.4	-	2	763	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	199					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGAGAGGACGATGAACATGA	0.522000													32	68					0	0	0.000279167	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69096993	69096993	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:69096993T>C	ENST00000332644.5	-	7	775	c.614A>G	c.(613-615)aAa>aGa	p.K205R		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	205	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GTGACGGCCTTTCCATTGCAT	0.478000													20	78					0	0	0.000958276	0	0
DLK1	8788	broad.mit.edu	37	14	101194759	101194759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:101194759C>T	ENST00000341267.4	+	2	336	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	DLK1_ENST00000331224.6_Missense_Mutation_p.P32S|DLK1_ENST00000556051.1_Missense_Mutation_p.P32S	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	32	EGF-like 1.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GGCCTGCAACCCCCAAAATGG	0.562000													178	326					0	0	0.000781405	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													35	280					0	0	0.000680045	0	0
EHMT2	10919	broad.mit.edu	37	6	31855845	31855845	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31855845G>T	ENST00000395728.3	-	12	1888	c.1889C>A	c.(1888-1890)cCc>cAc	p.P630H	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P596H|EHMT2_ENST00000375530.4_Missense_Mutation_p.P539H|EHMT2_ENST00000375537.4_Missense_Mutation_p.P573H			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	573					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGCTCTCCCGGGGACATCCTG	0.642000													15	1950					0.000442599	0.00615569	0.000442599	1	0
HIST1H3A	8350	broad.mit.edu	37	6	26021002	26021002	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:26021002G>A	ENST00000357647.3	+	1	285	c.285G>A	c.(283-285)gaG>gaA	p.E95E		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	95					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTCTGCAGGAGGCGTGCGAGG	0.567000													158	227					0	0	0.000781405	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163783	12163783	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:12163783T>C	ENST00000379388.2	+	9	7578	c.7246T>C	c.(7246-7248)Ttt>Ctt	p.F2416L	HIVEP1_ENST00000541134.1_Missense_Mutation_p.F281L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2416					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATACTCCACGTTTGTGCCCCT	0.527000													4	254					0	0	8.12818e-05	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40247835	40247835	+	Silent	SNP	T	T	C	rs56302914		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:40247835T>C	ENST00000263791.5	+	6	652	c.609T>C	c.(607-609)atT>atC	p.I203I	EIF2AK4_ENST00000382727.2_Silent_p.I203I|EIF2AK4_ENST00000559624.1_Silent_p.I203I	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	203					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTTTGGAAATTGCTAGTTTGT	0.373000													47	113					0	0	0.000781405	0	0
PBX1	5087	broad.mit.edu	37	1	164781365	164781365	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:164781365C>G	ENST00000420696.2	+	6	1164	c.976C>G	c.(976-978)Ccc>Gcc	p.P326A	PBX1_ENST00000367897.1_Missense_Mutation_p.P326A|PBX1_ENST00000560641.1_Missense_Mutation_p.P221A|PBX1_ENST00000540246.1_Missense_Mutation_p.P221A|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Missense_Mutation_p.P326A|PBX1_ENST00000401534.1_Missense_Mutation_p.P326A	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	326					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGCTAACTCGCCCTCAACTCC	0.443000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								3	122					0	0	6.4e-05	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762391	92762391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:92762391C>T	ENST00000318238.4	-	5	4110	c.2894G>A	c.(2893-2895)gGa>gAa	p.G965E	SAMD9L_ENST00000437805.1_Missense_Mutation_p.G965E|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G965E	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	965										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATAAGTTCCCATCTTGTC	0.383000													5	20					0	0	0.000602214	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948196	119948196	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:119948196T>C	ENST00000307142.4	+	3	868	c.672T>C	c.(670-672)tcT>tcC	p.S224S	SYNPO2_ENST00000434046.2_Silent_p.S224S|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.S224S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	224						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGAAAAATCTAAGTCTCCTG	0.512000													50	30					0	0	0.000781405	0	0
AGAP3	116988	broad.mit.edu	37	7	150814517	150814517	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:150814517G>A	ENST00000463381.1	+	0	350				AGAP3_ENST00000397238.2_Missense_Mutation_p.D180N|AGAP3_ENST00000473312.1_Missense_Mutation_p.D180N|AGAP3_ENST00000335367.3_Missense_Mutation_p.D360N|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000479901.1_Missense_Mutation_p.D180N			Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTGATCCGAGATGAAGGAGG	0.607000													402	720					0	0	0.000781405	0	0
PSG8	440533	broad.mit.edu	37	19	43262211	43262211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:43262211C>T	ENST00000404209.4	-	3	748	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG8_ENST00000406636.3_Missense_Mutation_p.E96K|PSG8_ENST00000306511.4_Missense_Mutation_p.E218K|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	218	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCCGTATTTCACATTCATAG	0.512000													261	461					0	0	0.000781405	0	0
CHRNA6	8973	broad.mit.edu	37	8	42623495	42623495	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:42623495C>T	ENST00000276410.2	-	1	434	c.79_splice	c.e1+1	p.G27_splice	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Splice_Site_p.G27_splice	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	27						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGAAACCTACCTTTAAAGAAA	0.398000													79	116					0	0	0.000781405	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386418	41386418	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41386418C>T	ENST00000301146.4	-	3	1000	c.459G>A	c.(457-459)tcG>tcA	p.S153S	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.S102S	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	153						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGAGGAAGCCCGACTCCTCCT	0.672000													104	339					0	0	0.000781405	0	0
ZHX1	11244	broad.mit.edu	37	8	124267642	124267642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:124267642G>A	ENST00000395571.3	-	3	1162	c.545C>T	c.(544-546)cCt>cTt	p.P182L	ZHX1_ENST00000522655.1_Missense_Mutation_p.P182L|ZHX1_ENST00000297857.2_Missense_Mutation_p.P182L|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	182					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTCATGATAGGAGTTTTACT	0.343000													101	197					0	0	0.000781405	0	0
DCHS1	8642	broad.mit.edu	37	11	6646552	6646552	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6646552C>T	ENST00000299441.3	-	19	7434	c.7023G>A	c.(7021-7023)caG>caA	p.Q2341Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2341	Cadherin 22.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGTCACACTGCTCAAAGT	0.602000													197	182					0	0	0.000781405	0	0
FARSA	2193	broad.mit.edu	37	19	13033639	13033639	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:13033639G>A	ENST00000588025.1	-	14	1710	c.1570C>T	c.(1570-1572)Ctg>Ttg	p.L524L	FARSA_ENST00000423140.2_Silent_p.L453L|FARSA_ENST00000314606.4_Silent_p.L484L			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	484					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	ACCATCTGCAGGTTCACCTTG	0.582000													502	837					0	0	0.000781405	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661843	54661843	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:54661843C>T	ENST00000474759.1	+	10	1041	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CACNA2D3_ENST00000415676.2_Silent_p.F331F|CACNA2D3_ENST00000288197.5_Silent_p.F331F|CACNA2D3_ENST00000490478.1_Silent_p.F237F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	331	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F331F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACAAACTTTTCGCCAAAGGAA	0.413000													34	82					0	0	0.000953801	0	0
GPR158	57512	broad.mit.edu	37	10	25887347	25887347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:25887347C>T	ENST00000376351.3	+	11	3151	c.2792C>T	c.(2791-2793)tCc>tTc	p.S931F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	931						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CGCACTAAATCCCAGAAACCT	0.438000													42	79					0	0	0.000319135	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881414	111881414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:111881414G>A	ENST00000393256.3	+	2	365	c.92G>A	c.(91-93)gGg>gAg	p.G31E	BCL2L11_ENST00000337565.5_Missense_Mutation_p.G31E|BCL2L11_ENST00000308659.8_Missense_Mutation_p.G31E|BCL2L11_ENST00000393253.2_Missense_Mutation_p.G31E|BCL2L11_ENST00000405953.1_Missense_Mutation_p.G31E|BCL2L11_ENST00000357757.2_Missense_Mutation_p.G31E	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	31					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CTCAGACCTGGGGCCCCTACC	0.587000													210	363					0	0	0.000781405	0	0
MICAL3	57553	broad.mit.edu	37	22	18368808	18368808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:18368808G>A	ENST00000441493.2	-	16	2429	c.2077C>T	c.(2077-2079)Cct>Tct	p.P693S	MICAL3_ENST00000585038.1_Missense_Mutation_p.P693S|MICAL3_ENST00000414725.2_Missense_Mutation_p.P693S|MICAL3_ENST00000400561.2_Missense_Mutation_p.P693S|MICAL3_ENST00000429452.1_Missense_Mutation_p.P693S|MICAL3_ENST00000444520.1_Missense_Mutation_p.P693S|MICAL3_ENST00000383094.3_Missense_Mutation_p.P693S|MICAL3_ENST00000207726.7_Missense_Mutation_p.P693S	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	693						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGCCCCGAGGAGCTTCCTCC	0.597000													269	416					0	0	0.000781405	0	0
RNASE2	6036	broad.mit.edu	37	14	21424314	21424314	+	Silent	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:21424314A>C	ENST00000304625.2	+	2	474	c.384A>C	c.(382-384)acA>acC	p.T128T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	128					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		ATGCGCAGACACCAGCAAACA	0.458000													102	171					0	0	0.000781405	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													9	328					0	0	0.000219431	0	0
GTF3C3	9330	broad.mit.edu	37	2	197641336	197641336	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:197641336C>A	ENST00000263956.3	-	11	1497	c.1408G>T	c.(1408-1410)Ggc>Tgc	p.G470C		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	470						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCCATATAGCCTAAGGCCTTT	0.398000													7	247					0.000274275	0.00383431	0.000274275	1	0
OTOF	9381	broad.mit.edu	37	2	26706496	26706496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:26706496C>T	ENST00000272371.2	-	13	1352	c.1226G>A	c.(1225-1227)gGg>gAg	p.G409E	OTOF_ENST00000403946.3_Missense_Mutation_p.G409E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	409	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGGCACCCCCTCGGGGAG	0.602000													85	175					0	0	0.000781405	0	0
CELSR2	1952	broad.mit.edu	37	1	109793973	109793973	+	Silent	SNP	G	G	T	rs142614123		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:109793973G>T	ENST00000271332.3	+	1	1333	c.1272G>T	c.(1270-1272)tcG>tcT	p.S424S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	424	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCACAGCCTCGGATCGAGACA	0.552000													28	4260					0.00024832	0.00348194	0.00024832	1	0
OR51F1	256892	broad.mit.edu	37	11	4790956	4790956	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4790956G>A	ENST00000380383.1	-	1	212	c.213C>T	c.(211-213)ttC>ttT	p.F71F	OR51F1_ENST00000343430.3_Silent_p.F64F|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	64						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCCTGAAGAGGAAATAATACA	0.433000													25	61					0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9070884	9070884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9070884C>T	ENST00000397910.4	-	3	16765	c.16562G>A	c.(16561-16563)aGa>aAa	p.R5521K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5523	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						GATTTCTGTTCTGGAGGCCTG	0.507000													24	35					0	0	0.000586117	0	0
BPTF	2186	broad.mit.edu	37	17	65908943	65908943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:65908943C>T	ENST00000321892.4	+	13	5382	c.5321C>T	c.(5320-5322)tCt>tTt	p.S1774F	BPTF_ENST00000424123.3_Missense_Mutation_p.S1635F|BPTF_ENST00000306378.6_Missense_Mutation_p.S1648F|BPTF_ENST00000335221.5_Missense_Mutation_p.S1774F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1774	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACATCATCTCTGTAAAGGAG	0.512000													19	40					0	0	0.000132079	0	0
KIF1A	547	broad.mit.edu	37	2	241728672	241728672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:241728672G>A	ENST00000498729.2	-	3	410	c.164C>T	c.(163-165)tCc>tTc	p.S55F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S55F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	55	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGACCAGTAGGAGTAGTCAAA	0.622000													177	321					0	0	0.000781405	0	0
PPM1M	132160	broad.mit.edu	37	3	52281709	52281709	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52281709C>T	ENST00000296487.4	+	4	530	c.126C>T	c.(124-126)atC>atT	p.I42I	PPM1M_ENST00000457351.2_Silent_p.I203I|PPM1M_ENST00000409502.3_5'UTR|PPM1M_ENST00000323588.4_Silent_p.I42I			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	42	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		ATGAGGTGATCGGGCGGGAGC	0.597000													53	90					0	0	0.000781405	0	0
ARID1B	57492	broad.mit.edu	37	6	157521971	157521971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:157521971G>A	ENST00000346085.5	+	18	4244	c.4243G>A	c.(4243-4245)Gac>Aac	p.D1415N	ARID1B_ENST00000275248.4_Missense_Mutation_p.D1397N|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1455N|ARID1B_ENST00000350026.5_Missense_Mutation_p.D1402N	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1402					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTCGGGCCCGGACCGCAGGCC	0.632000													107	74					0	0	0.000781405	0	0
ADCY4	196883	broad.mit.edu	37	14	24803709	24803709	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24803709G>A	ENST00000310677.4	-	2	263	c.150C>T	c.(148-150)gcC>gcT	p.A50A	RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000418030.2_Silent_p.A50A|ADCY4_ENST00000554068.2_Silent_p.A50A|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	50					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCCTGCCGCTGGCCCAGGCCA	0.637000													22	44					0	0	0.000878237	0	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5172912G>A	ENST00000380367.1	-	2	1105	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423000													46	156					0	0	0.000509022	0	0
NBAS	51594	broad.mit.edu	37	2	15319169	15319169	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:15319169C>A	ENST00000281513.5	-	51	6808	c.6783G>T	c.(6781-6783)gaG>gaT	p.E2261D	NBAS_ENST00000441750.1_Missense_Mutation_p.E2141D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2261										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATCTCGGCTCTCGAGGAGAA	0.488000													35	42					6.90743e-12	9.88595e-11	0.000692331	1	0
RBM5	10181	broad.mit.edu	37	3	50129563	50129563	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:50129563G>T	ENST00000347869.3	+	3	280	c.105G>T	c.(103-105)agG>agT	p.R35S	RBM5_ENST00000469838.1_Missense_Mutation_p.R35S	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	35					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGGCGGAGGGACTCAGATT	0.498000													184	272					1.38479e-102	2.01113e-101	0.000781405	1	0
GTF2F1	2962	broad.mit.edu	37	19	6389649	6389649	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:6389649C>T	ENST00000394456.5	-	4	597		c.e4-1		CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Splice_Site	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CCAGCCGAGCCTAGGGGAGCA	0.607000													375	555					0	0	0.000781405	0	0
DMBT1	1755	broad.mit.edu	37	10	124358299	124358299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124358299C>T	ENST00000338354.3	+	26	3072	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F	DMBT1_ENST00000344338.3_Missense_Mutation_p.S979F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S989F|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.S490F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S490F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S979F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	989					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATCTGAATCCAGTTTGGCC	0.537000													353	664					0	0	0.000781405	0	0
NOL4	8715	broad.mit.edu	37	18	31803068	31803068	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:31803068G>C	ENST00000261592.5	-	1	447	c.150C>G	c.(148-150)aaC>aaG	p.N50K	NOL4_ENST00000589544.1_Missense_Mutation_p.N50K|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	50						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAAATTTGGCGTTGTCCGTGG	0.597000													239	471					0	0	0.000781405	0	0
GCC1	79571	broad.mit.edu	37	7	127225114	127225114	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:127225114G>T	ENST00000321407.2	-	1	547	c.123C>A	c.(121-123)gcC>gcA	p.A41A	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	41						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTTTTATAGGCACGGACCA	0.577000											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	1132					8.12818e-05	0.00114517	8.12818e-05	1	0
MAP3K5	4217	broad.mit.edu	37	6	136913610	136913610	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:136913610T>A	ENST00000359015.4	-	22	3381	c.3021A>T	c.(3019-3021)gaA>gaT	p.E1007D	MAP3K5_ENST00000355845.4_Missense_Mutation_p.E254D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1007					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGACATCTCTTTCTCCGCAGG	0.473000													128	57					0	0	0.000781405	0	0
DSG4	147409	broad.mit.edu	37	18	28989502	28989502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28989502G>A	ENST00000359747.4	+	13	2050	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	DSG4_ENST00000308128.4_Missense_Mutation_p.G674E|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	674					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTGAGGGCGGAGAAGGAGTG	0.542000													282	507					0	0	0.000781405	0	0
DEPDC1	55635	broad.mit.edu	37	1	68955157	68955157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:68955157C>T	ENST00000456315.2	-	3	563	c.449G>A	c.(448-450)aGg>aAg	p.R150K	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R150K	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	150					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAATCCATGCCTTTTAGGAGT	0.274000													109	184					0	0	0.000781405	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514855	233514855	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:233514855C>T	ENST00000366624.3	+	9	2364	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	MLK4_ENST00000366622.1_Silent_p.S147S	NM_032435.2	NP_115811.2																					CCACAGTCTCCATTGAGATGA	0.527000													35	92					0	0	0.000692331	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064898	63064898	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:63064898C>T	ENST00000544661.1	+	4	593	c.165C>T	c.(163-165)tcC>tcT	p.S55S	SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Silent_p.S210S|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	210						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTTTTTCTTCCATGATCATTA	0.398000													6	25					0	0	0.000157383	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													10	427					5.50884e-06	7.83942e-05	0.00010058	1	0
TNR	7143	broad.mit.edu	37	1	175334168	175334168	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:175334168G>A	ENST00000367674.1	-	12	3273	c.2565C>T	c.(2563-2565)ccC>ccT	p.P855P	TNR_ENST00000263525.2_Silent_p.P855P	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	855	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCCACAATGGGCTCAGAGG	0.507000													29	36					0	0	0.000147802	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577087	158577087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158577087C>T	ENST00000361284.1	+	1	859	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTCCTTAATCCCATTGTTTA	0.473000													70	80					0	0	0.000781405	0	0
KIAA1211	57482	broad.mit.edu	37	4	57189571	57189571	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:57189571C>T	ENST00000504228.1	+	7	3321	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	KIAA1211_ENST00000541073.1_Silent_p.S1065S|KIAA1211_ENST00000264229.6_Silent_p.S1072S			Q6ZU35	K1211_HUMAN	KIAA1211	1072										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCAGACACTCCTTAGATGGCT	0.498000													64	262					0	0	0.000781405	0	0
CAPN13	92291	broad.mit.edu	37	2	30966439	30966439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:30966439G>A	ENST00000295055.8	-	13	1431	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	CAPN13_ENST00000534090.2_Missense_Mutation_p.R419W	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	419					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AATTTCTCCCGGAACCGCTGG	0.473000													50	78					0	0	0.000781405	0	0
CCR4	1233	broad.mit.edu	37	3	32995215	32995215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:32995215G>A	ENST00000330953.5	+	2	469	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	101					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTATGCAGCAGACCAGTGGGT	0.493000													171	209					0	0	0.000781405	0	0
EPN3	55040	broad.mit.edu	37	17	48616568	48616568	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:48616568T>C	ENST00000268933.3	+	5	1362	c.783T>C	c.(781-783)ggT>ggC	p.G261G	EPN3_ENST00000541226.1_Silent_p.G178G|EPN3_ENST00000537145.1_Silent_p.G289G	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	261						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	p.G261G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCTGGCAGGGTGATGGCTCCC	0.597000													7	776					0	0	0.000151284	0	0
CECR2	27443	broad.mit.edu	37	22	18028461	18028461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:18028461G>A	ENST00000262608.8	+	16	3421	c.3421G>A	c.(3421-3423)Ggc>Agc	p.G1141S	CECR2_ENST00000400585.2_Missense_Mutation_p.G998S|CECR2_ENST00000400573.4_Missense_Mutation_p.G1140S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1182					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCCCCAAGGGGCTTTCAGTC	0.592000													48	93					0	0	0.000781405	0	0
SNRPA	6626	broad.mit.edu	37	19	41263307	41263307	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41263307C>T	ENST00000243563.3	+	2	694	c.144C>T	c.(142-144)agC>agT	p.S48S	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	48	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TATCACGGAGCCTGAAGATGA	0.532000													138	211					0	0	0.000781405	0	0
ACBD5	91452	broad.mit.edu	37	10	27507103	27507103	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:27507103A>T	ENST00000396271.3	-	7	761	c.635T>A	c.(634-636)aTg>aAg	p.M212K	ACBD5_ENST00000375888.1_Missense_Mutation_p.M221K|ACBD5_ENST00000375905.4_Missense_Mutation_p.M177K|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375901.1_Missense_Mutation_p.M103K|ACBD5_ENST00000476758.1_5'UTR	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	221					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTTCTTCATCATTTTCTTATC	0.353000													22	187					0	0	0.000720815	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362656	22362656	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:22362656C>T	ENST00000390438.2	+	0	44																											GCCTAACCTGCCTGCTGCTCC	0.557000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	7					0	0	6.40141e-05	0	0
SUOX	6821	broad.mit.edu	37	12	56398470	56398470	+	Missense_Mutation	SNP	C	C	T	rs61733163	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56398470C>T	ENST00000394109.3	+	3	2021	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	SUOX_ENST00000356124.4_Missense_Mutation_p.R433W|SUOX_ENST00000266971.3_Missense_Mutation_p.R433W|SUOX_ENST00000548274.1_Missense_Mutation_p.R433W|SUOX_ENST00000394115.2_Missense_Mutation_p.R433W			P51687	SUOX_HUMAN	sulfite oxidase	433	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACAGAGCCCCGGGATGGAGA	0.547000													92	373					0	0	0.000781405	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509297	71509297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:71509297G>A	ENST00000265382.3	+	8	819	c.514G>A	c.(514-516)Gga>Aga	p.G172R	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G172R	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	172	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAAATTTTACGGACTGTATTG	0.328000													16	10					0	0	0.000958276	0	0
SS18L1	26039	broad.mit.edu	37	20	60737913	60737913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:60737913G>A	ENST00000331758.3	+	5	508	c.482G>A	c.(481-483)gGc>gAc	p.G161D	SS18L1_ENST00000370848.4_Missense_Mutation_p.G164D|SS18L1_ENST00000421564.1_Missense_Mutation_p.G161D|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	161	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCCTCGCAGGGCGTCCCCATG	0.647000			T	SSX1	synovial sarcoma								100	200					0	0	0.000781405	0	0
PDE6A	5145	broad.mit.edu	37	5	149264377	149264377	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:149264377T>A	ENST00000255266.5	-	15	2011	c.1892A>T	c.(1891-1893)cAc>cTc	p.H631L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	631					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAACTCCAAGTGGTGTCTTTC	0.507000													75	32					0	0	0.000781405	0	0
ZNF142	7701	broad.mit.edu	37	2	219508346	219508346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219508346G>A	ENST00000411696.2	-	7	3672	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S	ZNF142_ENST00000449707.1_Missense_Mutation_p.P965S			P52746	ZN142_HUMAN	zinc finger protein 142	965					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTGCAGGAGGGACTGGGGAA	0.562000													529	742					0	0	0.000781405	0	0
C1orf168	199920	broad.mit.edu	37	1	57216728	57216728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:57216728G>A	ENST00000343433.6	-	9	1456	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	459										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTGGCCTTGGGAGTGCCTGGC	0.428000													15	27					0	0	0.000566183	0	0
DNAH17	8632	broad.mit.edu	37	17	76464942	76464942	+	Silent	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:76464942T>A	ENST00000389840.5	-	55	8617	c.8493A>T	c.(8491-8493)atA>atT	p.I2831I	DNAH17_ENST00000585328.1_Silent_p.I2840I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCAGCCTTTATGTACTGAG	0.537000													169	244					0	0	0.000781405	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493000													4	511					0	0	0.00024832	0	0
C12orf5	57103	broad.mit.edu	37	12	4446225	4446225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:4446225C>T	ENST00000179259.4	+	3	158	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	31						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AGATGAACCTCTTTCAGAAAC	0.343000													40	120					0	0	0.000509022	0	0
USP41	373856	broad.mit.edu	37	22	20729796	20729796	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:20729796C>T	ENST00000454608.2	-	6	383	c.384G>A	c.(382-384)caG>caA	p.Q128Q						ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CGTTGTACTTCTGCAGGCAGT	0.567000													40	77					0	0	0.000374591	0	0
CDH8	1006	broad.mit.edu	37	16	61851630	61851630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:61851630C>T	ENST00000577390.1	-	7	1984	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	CDH8_ENST00000299345.6_Missense_Mutation_p.D344N|CDH8_ENST00000577730.1_Missense_Mutation_p.D344N|CDH8_ENST00000584337.1_Missense_Mutation_p.D344N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	344	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCTCAAAGTCCAGAGGCTGT	0.438000													12	20					0	0	6.40141e-05	0	0
GSE1	23199	broad.mit.edu	37	16	85690882	85690882	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:85690882G>A	ENST00000253458.7	+	8	1488		c.e8-1		GSE1_ENST00000405402.2_Splice_Site|GSE1_ENST00000393243.1_Splice_Site	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		TCCCCCCACAGAGAAGCTGAA	0.642000													176	335					0	0	0.000781405	0	0
PRTG	283659	broad.mit.edu	37	15	56032592	56032592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:56032592G>A	ENST00000389286.4	-	2	432	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	PRTG_ENST00000561292.1_Missense_Mutation_p.L129F	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	129	Ig-like 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATAAGGCAAGATGAGCTTTT	0.373000													340	564					0	0	0.000781405	0	0
SCAMP1	9522	broad.mit.edu	37	5	77712443	77712443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:77712443G>A	ENST00000538629.1	+	4	470	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	105					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		AGATCGTCGGGAACGAGAAAT	0.343000													3	6					0	0	6.4e-05	0	0
DTX1	1840	broad.mit.edu	37	12	113532612	113532612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113532612G>A	ENST00000257600.3	+	6	1749	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	416					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CATCTGCATGGAGCGACTGGT	0.667000													84	280					0	0	0.000781405	0	0
EIF3E	3646	broad.mit.edu	37	8	109260865	109260865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:109260865G>A	ENST00000220849.5	-	1	129	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	23	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AGAAATTCAAGAAGCGGAAAG	0.532000													67	84					0	0	0.000781405	0	0
AMPD1	270	broad.mit.edu	37	1	115238105	115238105	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:115238105C>T	ENST00000369538.3	-	1	134	c.87G>A	c.(85-87)agG>agA	p.R29R	AMPD1_ENST00000520113.2_Silent_p.R29R|AMPD1_ENST00000353928.6_5'UTR	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	0					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCTGAAATCCTTGATTCTA	0.378000													135	296					0	0	0.000781405	0	0
SLIT3	6586	broad.mit.edu	37	5	168098256	168098256	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:168098256G>A	ENST00000519560.1	-	34	4493	c.4074C>T	c.(4072-4074)ggC>ggT	p.G1358G	SLIT3_ENST00000332966.8_Silent_p.G1365G|SLIT3_ENST00000404867.3_Silent_p.G1358G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1358	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCGGTCCAGCCTGGGCGGC	0.692000													152	76					0	0	0.000781405	0	0
ZNF808	388558	broad.mit.edu	37	19	53056804	53056804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:53056804C>T	ENST00000359798.4	+	5	815	c.635C>T	c.(634-636)cCc>cTc	p.P212L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGGAATAATCCCCTGAATTCT	0.393000													188	341					0	0	0.000781405	0	0
PDE3A	5139	broad.mit.edu	37	12	20774250	20774250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:20774250C>T	ENST00000359062.3	+	5	1485	c.1445C>T	c.(1444-1446)cCa>cTa	p.P482L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	482					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGAATAATCCAGTGATGATG	0.388000													6	5					0	0	0.000157383	0	0
RALGAPB	57148	broad.mit.edu	37	20	37168551	37168551	+	Nonsense_Mutation	SNP	C	C	T	rs79899092		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:37168551C>T	ENST00000262879.6	+	17	2796	c.2512C>T	c.(2512-2514)Cag>Tag	p.Q838*	RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.Q834*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.Q616*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.Q838*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	838					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGCAGCTTTTCAGTGTCTCTG	0.423000													23	64					0	0	0.000147802	0	0
ESPNP	284729	broad.mit.edu	37	1	17033878	17033878	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:17033878C>T	ENST00000492551.1	-	0	600					NR_026567.1																						TCGCGGACTTCCAGCTCCGCG	0.716000													17	160					0	0	0.000132079	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													12	77					0	0	0.000422831	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509119	106509119	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:106509119C>A	ENST00000359195.3	+	2	1423	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P	PIK3CG_ENST00000496166.1_Silent_p.P371P|PIK3CG_ENST00000440650.2_Silent_p.P371P	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	371					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.P371P(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTGATATCCCCGTCCTGCCTC	0.547000													10	748					6.40141e-05	0.000903841	6.40141e-05	1	0
KIAA1804	84451	broad.mit.edu	37	1	233512231	233512231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:233512231C>T	ENST00000366624.3	+	8	2143	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.Q74*	NM_032435.2	NP_115811.2																					AATAAAAAATCAGAAAACCAT	0.413000													28	42					0	0	0.000491102	0	0
ZNF616	90317	broad.mit.edu	37	19	52619667	52619667	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52619667G>T	ENST00000600228.1	-	4	1011	c.750C>A	c.(748-750)ttC>ttA	p.F250L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AATTTTTTCTGAAGATCTTGC	0.403000													34	83					2.48696e-23	3.57825e-22	0.00058488	1	0
SCCPDH	51097	broad.mit.edu	37	1	246923342	246923342	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:246923342T>G	ENST00000366510.3	+	8	1273	c.897T>G	c.(895-897)ttT>ttG	p.F299L		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	299						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TTTTGTTCTTTGTGAGGTTTG	0.328000													90	176					0	0	0.000781405	0	0
KPNA3	3839	broad.mit.edu	37	13	50296188	50296188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:50296188G>A	ENST00000261667.3	-	9	1043	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	210	NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GGGGATGGAGGGACTGATGAA	0.448000													134	186					0	0	0.000781405	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411657	105411657	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105411657C>T	ENST00000333244.5	-	7	10250	c.10131G>A	c.(10129-10131)ccG>ccA	p.P3377P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3377						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTGGCCCTCCGGGAGCTTCA	0.637000													574	881					0	0	0.000781405	0	0
PALM	5064	broad.mit.edu	37	19	731131	731131	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:731131C>T	ENST00000264560.7	+	5	500	c.306C>T	c.(304-306)gaC>gaT	p.D102D	PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Silent_p.D102D	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	102					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		AGCGTGGAGACTCCGCCCCAG	0.672000													55	105					0	0	0.000781405	0	0
CES2	8824	broad.mit.edu	37	16	66969505	66969505	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:66969505C>T	ENST00000317091.4	+	1	1143	c.159C>T	c.(157-159)gtC>gtT	p.V53V	CES2_ENST00000417689.1_Silent_p.V53V	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGCAGCGTGTCCGCCGGCAGC	0.672000													373	628					0	0	0.000781405	0	0
POLDIP3	84271	broad.mit.edu	37	22	42981924	42981924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42981924C>T	ENST00000252115.5	-	9	1243	c.1139G>A	c.(1138-1140)aGg>aAg	p.R380K	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.R351K|POLDIP3_ENST00000451060.2_3'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	380					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						AGAGTTCACCCTGCGAGGCAG	0.552000													144	235					0	0	0.000781405	0	0
SLC51A	200931	broad.mit.edu	37	3	195955749	195955749	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195955749G>A	ENST00000296327.5	+	6	800	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGACCCTGGTGGGCCTGTTTC	0.532000													338	441					0	0	0.000781405	0	0
KCNH6	81033	broad.mit.edu	37	17	61619602	61619602	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61619602G>A	ENST00000583023.1	+	9	1966	c.1954_splice	c.e9-1	p.G652_splice	KCNH6_ENST00000314672.5_Splice_Site_p.G652_splice|KCNH6_ENST00000581784.1_Splice_Site_p.G599_splice|KCNH6_ENST00000456941.2_Splice_Site_p.G599_splice	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	652					regulation of transcription, DNA-dependent|signal transduction			p.G652E(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGCTGGCAGGAAAGAATGAC	0.587000													179	350					0	0	0.000781405	0	0
ANAPC7	51434	broad.mit.edu	37	12	110812066	110812066	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:110812066G>A	ENST00000455511.3	-	11	1683	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	561					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CCTCCTGAGTGGCATCCGTGG	0.587000													178	216					0	0	0.000781405	0	0
TUBB2A	7280	broad.mit.edu	37	6	3154135	3154135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:3154135C>T	ENST00000333628.3	-	4	1362	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R		NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	434					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCGAACTCCCCTTGTTCGTCG	0.557000													204	430					0	0	0.000781405	0	0
SH3D19	152503	broad.mit.edu	37	4	152053519	152053519	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:152053519C>T	ENST00000409598.4	-	17	3033	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L	SH3D19_ENST00000304527.4_Silent_p.L645L|SH3D19_ENST00000455740.1_Silent_p.L622L|SH3D19_ENST00000427414.2_Silent_p.L586L|SH3D19_ENST00000409252.2_Silent_p.L645L|SH3D19_ENST00000424281.1_Silent_p.L586L|SH3D19_ENST00000514152.1_Silent_p.L622L			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	645	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTTGGTTTTCAGTGGTACCT	0.383000													67	14					0	0	0.000781405	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334334	37334334	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:37334334G>A	ENST00000262825.5	+	14	2719	c.2502G>A	c.(2500-2502)ctG>ctA	p.L834L	CSF2RB_ENST00000406230.1_Silent_p.L834L|CSF2RB_ENST00000403662.3_Silent_p.L828L|CSF2RB_ENST00000536485.1_Silent_p.L775L	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	828					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCCCGGCCTGGGGCCCGGCC	0.637000													431	771					0	0	0.000781405	0	0
AIDA	64853	broad.mit.edu	37	1	222860955	222860955	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:222860955A>G	ENST00000340020.6	-	5	541	c.335T>C	c.(334-336)gTt>gCt	p.V112A	AIDA_ENST00000355727.2_Missense_Mutation_p.V112A|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Missense_Mutation_p.V88A	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	112					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GACAGGCTGAACATCAAATGG	0.264000													157	146					0	0	0.000781405	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													19	100					0	0	0.000878237	0	0
PCSK6	5046	broad.mit.edu	37	15	101929707	101929707	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:101929707G>A	ENST00000348070.1	-	10	1268	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.P423P|PCSK6_ENST00000344273.2_Silent_p.P423P|PCSK6_ENST00000398181.2_Silent_p.P423P|PCSK6_ENST00000331826.7_Silent_p.P258P	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	424	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCGCCACCATGGGGGCAGAGA	0.502000													225	428					0	0	0.000781405	0	0
PRRC2B	84726	broad.mit.edu	37	9	134354730	134354730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:134354730C>T	ENST00000357304.4	+	18	4905	c.4850C>T	c.(4849-4851)aCc>aTc	p.T1617I	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.T923I|PRRC2B_ENST00000458550.1_Missense_Mutation_p.T923I	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1617							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGTGACGTGACCGTGCCTGGC	0.577000													138	56					0	0	0.000781405	0	0
OR52K1	390036	broad.mit.edu	37	11	4510323	4510323	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4510323C>T	ENST00000307632.3	+	1	215	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTACCTCTTTCTGGCCATGTT	0.488000													21	27					0	0	0.000175454	0	0
OR7C2	26658	broad.mit.edu	37	19	15052948	15052948	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15052948C>T	ENST00000248072.3	+	1	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GAATCCTATTCTCTTATTCTC	0.468000													114	157					0	0	0.000781405	0	0
NUF2	83540	broad.mit.edu	37	1	163298690	163298690	+	Silent	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:163298690A>T	ENST00000271452.3	+	5	609	c.330A>T	c.(328-330)ctA>ctT	p.L110L	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Silent_p.L110L|NUF2_ENST00000524800.1_Silent_p.L110L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	110	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTGATATTCTATGTCCAAGTA	0.328000													182	139					0	0	0.000781405	0	0
MEGF6	1953	broad.mit.edu	37	1	3431122	3431122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:3431122G>A	ENST00000356575.4	-	7	1071	c.845C>T	c.(844-846)gCc>gTc	p.A282V	MEGF6_ENST00000294599.4_Missense_Mutation_p.A177V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	282	EGF-like 4.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACCTTCACAGGCCTTGCCGTC	0.687000													42	71					0	0	0.000781405	0	0
SPTB	6710	broad.mit.edu	37	14	65241964	65241964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:65241964G>A	ENST00000389722.3	-	22	4774	c.4721C>T	c.(4720-4722)gCc>gTc	p.A1574V	SPTB_ENST00000542895.1_Missense_Mutation_p.A1574V|SPTB_ENST00000389721.5_Missense_Mutation_p.A1574V|SPTB_ENST00000556626.1_Missense_Mutation_p.A1574V|SPTB_ENST00000389720.3_Missense_Mutation_p.A1574V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1574					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCCTCCCGGCCGCTGCCTC	0.682000													130	264					0	0	0.000781405	0	0
TEX26	122046	broad.mit.edu	37	13	31506856	31506856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:31506856G>A	ENST00000380473.3	+	1	17	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TEX26-AS1_ENST00000591131.1_RNA|TEX26-AS1_ENST00000591300.1_RNA|TEX26-AS1_ENST00000587596.1_RNA	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	2																	GGGCAGAATGGAACAGCCTGG	0.687000													70	139					0	0	0.000781405	0	0
TTC9	23508	broad.mit.edu	37	14	71134364	71134364	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:71134364T>C	ENST00000256367.2	+	2	833	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	164							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGGGGAGAACTTCAAGGCCCT	0.512000													54	94					0	0	0.000781405	0	0
MAP3K11	4296	broad.mit.edu	37	11	65367188	65367188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:65367188G>A	ENST00000309100.3	-	9	2368	c.1883C>T	c.(1882-1884)cCc>cTc	p.P628L	MAP3K11_ENST00000530153.1_Missense_Mutation_p.P371L|MAP3K11_ENST00000532507.1_Missense_Mutation_p.P44L|MAP3K11_ENST00000534432.1_5'UTR	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	628	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCGCTCTGCGGGGACAGGCCT	0.726000													31	101					0	0	0.000191422	0	0
FGFR2	2263	broad.mit.edu	37	10	123245004	123245004	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:123245004C>T	ENST00000358487.5	-	16	2372	c.2100G>A	c.(2098-2100)ggG>ggA	p.G700G	FGFR2_ENST00000478859.1_Silent_p.G472G|FGFR2_ENST00000357555.5_Silent_p.G611G|FGFR2_ENST00000457416.2_Silent_p.G701G|FGFR2_ENST00000369056.1_Silent_p.G701G|FGFR2_ENST00000351936.6_Silent_p.G698G|FGFR2_ENST00000369059.1_Silent_p.G586G|FGFR2_ENST00000369061.4_Silent_p.G588G|FGFR2_ENST00000360144.3_Silent_p.G612G|FGFR2_ENST00000369060.4_Silent_p.G584G|FGFR2_ENST00000346997.2_Silent_p.G698G|FGFR2_ENST00000356226.4_Silent_p.G583G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	700	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.G701S(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGGGCGAGCCCCCTAAAGTGA	0.502000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				49	127					0	0	0.000781405	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762608	130762608	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:130762608G>A	ENST00000392429.1	+	2	3419	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	TMEM200A_ENST00000545622.1_Silent_p.R347R|TMEM200A_ENST00000296978.3_Silent_p.R347R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	347						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGCTACCAAGGAATAATTCCA	0.517000													13	5					0	0	0.000566183	0	0
NYAP2	57624	broad.mit.edu	37	2	226447029	226447029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:226447029C>T	ENST00000272907.6	+	4	1309	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	299																	TGTGCTACTCCCACGGTGCCT	0.577000													186	354					0	0	0.000781405	0	0
RET	5979	broad.mit.edu	37	10	43615054	43615054	+	Missense_Mutation	SNP	G	G	A	rs142779213		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:43615054G>A	ENST00000355710.3	+	14	2700	c.2468G>A	c.(2467-2469)gGg>gAg	p.G823E	RET_ENST00000340058.5_Missense_Mutation_p.G823E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	823	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCAAAGTGGGGCCTGGCTAC	0.687000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				120	178					0	0	0.000781405	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110471946	110471946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:110471946G>A	ENST00000378402.5	+	47	7231	c.7127G>A	c.(7126-7128)gGa>gAa	p.G2376E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2376					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCCTGATGGAACTCTGTTT	0.363000										HNSCC(38;0.096)			5	20					0	0	0.000602214	0	0
HECW2	57520	broad.mit.edu	37	2	197298102	197298102	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:197298102T>C	ENST00000260983.2	-	2	228	c.46A>G	c.(46-48)Aat>Gat	p.N16D		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	16					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATCTGGGGATTTCGACGCCTC	0.572000													18	30					0	0	0.000132079	0	0
AGXT	189	broad.mit.edu	37	2	241813426	241813426	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:241813426G>A	ENST00000307503.3	+	6	1014	c.627G>A	c.(625-627)aaG>aaA	p.K209K		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	209					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTCCCAGAAGGCCCTGAACG	0.632000													262	579					0	0	0.000781405	0	0
ACCSL	390110	broad.mit.edu	37	11	44072949	44072949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:44072949G>A	ENST00000378832.1	+	4	756	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	234							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						ACTTGACCCAGAAAATGTGAG	0.567000													77	68					0	0	0.000781405	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192577	132192577	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:132192577G>A	ENST00000359827.3	-	2	1838	c.876C>T	c.(874-876)tcC>tcT	p.S292S	PLXNA4_ENST00000321063.4_Silent_p.S292S|PLXNA4_ENST00000378539.5_Silent_p.S292S|PLXNA4_ENST00000423507.2_Silent_p.S292S			Q9HCM2	PLXA4_HUMAN	plexin A4	292	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTCTACATAGGAGTTGAAGG	0.602000													29	64					0	0	0.000147802	0	0
NBPF3	84224	broad.mit.edu	37	1	21807440	21807440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:21807440G>A	ENST00000318220.6	+	15	2279	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	NBPF3_ENST00000318249.5_Missense_Mutation_p.E467K|NBPF3_ENST00000454000.2_Missense_Mutation_p.E397K|NBPF3_ENST00000342104.5_Missense_Mutation_p.E455K			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	467	NBPF 3.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAAGGACCAAGAAGAGGAAGA	0.463000													157	422					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82544124	82544124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82544124C>T	ENST00000423517.2	-	7	13515	c.13178G>A	c.(13177-13179)gGa>gAa	p.G4393E	PCLO_ENST00000437081.1_Missense_Mutation_p.G1113E|PCLO_ENST00000333891.8_Missense_Mutation_p.G4393E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4324					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGCTTGATCCAAACTGATC	0.527000													11	12					0	0	0.00010058	0	0
AARS	16	broad.mit.edu	37	16	70292956	70292956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:70292956G>A	ENST00000261772.8	-	14	2062	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	640					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGCTCCCTTGGCAGTAAAGTC	0.542000													433	753					0	0	0.000781405	0	0
PCDH7	5099	broad.mit.edu	37	4	30724766	30724766	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:30724766G>A	ENST00000361762.2	+	1	2730	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	PCDH7_ENST00000543491.1_Silent_p.L574L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	574	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCTACTCGCTGGACTCCTCTG	0.577000													214	157					0	0	0.000781405	0	0
WDR45	11152	broad.mit.edu	37	X	48934105	48934105	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:48934105G>A	ENST00000356463.3	-	7	861	c.423C>T	c.(421-423)acC>acT	p.T141T	WDR45_ENST00000485908.1_Silent_p.T105T|WDR45_ENST00000473974.1_Silent_p.T140T|WDR45_ENST00000376368.2_Silent_p.T141T|WDR45_ENST00000322995.8_Silent_p.T140T|WDR45_ENST00000376372.3_Silent_p.T140T|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000396681.4_Silent_p.T140T|WDR45_ENST00000470270.1_5'UTR	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	140					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGTTGTCCCGGGTATCAAACT	0.532000													474	109					0	0	0.000781405	0	0
AQR	9716	broad.mit.edu	37	15	35176813	35176813	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:35176813G>A	ENST00000156471.5	-	26	3165	c.2940C>T	c.(2938-2940)ccC>ccT	p.P980P		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	980						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CTTTAAAAATGGGTTGAGGAG	0.368000													39	63					0	0	0.000374591	0	0
HMGCS2	3158	broad.mit.edu	37	1	120300032	120300032	+	Missense_Mutation	SNP	C	C	T	rs144103604		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:120300032C>T	ENST00000369406.3	-	5	929	c.880G>A	c.(880-882)Gat>Aat	p.D294N	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.D252N	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	294					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TACTGTAAATCGTCAAGGGTG	0.512000													196	289					0	0	0.000781405	0	0
ZNF274	10782	broad.mit.edu	37	19	58718408	58718408	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:58718408G>A	ENST00000326804.4	+	6	1035	c.576G>A	c.(574-576)aaG>aaA	p.K192K	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Silent_p.K87K|ZNF274_ENST00000345813.3_Silent_p.K160K	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	193	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TACAGCCTAAGGCACGCTCCA	0.622000													66	106					0	0	0.000781405	0	0
SLC7A14	57709	broad.mit.edu	37	3	170244711	170244711	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:170244711G>A	ENST00000231706.4	-	2	330	c.15C>T	c.(13-15)ttC>ttT	p.F5F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	5						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCAGCGAGGTGAAGAAGCCAC	0.562000													15	33					0	0	0.000566183	0	0
DCAF8	50717	broad.mit.edu	37	1	160209838	160209838	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160209838G>A	ENST00000368073.3	-	4	806	c.372C>T	c.(370-372)aaC>aaT	p.N124N	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Silent_p.N124N|DCAF8_ENST00000556710.1_Silent_p.N278N|DCAF8_ENST00000326837.2_Silent_p.N124N			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	124						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CCTGGTCACGGTTAGCCCGCT	0.592000													114	81					0	0	0.000781405	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													5	169					0	0	0.000274275	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012934	75012934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:75012934C>T	ENST00000379727.3	-	7	1633	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	CYP1A1_ENST00000395049.4_Missense_Mutation_p.E450K|CYP1A1_ENST00000395048.2_Missense_Mutation_p.E479K|CYP1A1_ENST00000567032.1_Missense_Mutation_p.E479K			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	479					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACGCTGAATTCCACCCGTTGC	0.557000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				215	398					0	0	0.000781405	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998066	27998066	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:27998066G>T	ENST00000441525.1	-	1	1500	c.1386C>A	c.(1384-1386)gtC>gtA	p.V462V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	462										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCAGAAGAAGACGTGCCCAC	0.468000													10	6					0.000442599	0.00615569	0.000442599	1	0
PSMD7	5713	broad.mit.edu	37	16	74330842	74330842	+	Silent	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:74330842G>C	ENST00000219313.4	+	1	170	c.30G>C	c.(28-30)gtG>gtC	p.V10V	PSMD7_ENST00000540379.1_5'UTR|PSMD7_ENST00000567958.1_Silent_p.V10V|PSMD7_ENST00000568615.2_Silent_p.V10V	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	10	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						AGAAGGTGGTGGTCCACCCCC	0.682000													137	231					0	0	0.000781405	0	0
ITGA5	3678	broad.mit.edu	37	12	54799016	54799016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:54799016C>T	ENST00000293379.4	-	12	1420	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	387					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCAAACTCATCATGGCCAGTG	0.627000													230	222					0	0	0.000781405	0	0
GBP1	2633	broad.mit.edu	37	1	89522545	89522545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:89522545C>T	ENST00000370473.4	-	7	1366	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	383					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACCGCTAACTCCTTTTGAAAT	0.413000													103	201					0	0	0.000781405	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													10	1246					0	0	8.12818e-05	0	0
DOCK6	57572	broad.mit.edu	37	19	11332692	11332692	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11332692A>T	ENST00000294618.7	-	28	3396	c.3385T>A	c.(3385-3387)Ttc>Atc	p.F1129I	DOCK6_ENST00000319867.7_Missense_Mutation_p.F468I	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1129					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGCAACAGGAATGCCCTATGG	0.607000													96	192					0	0	0.000781405	0	0
NLRP3	114548	broad.mit.edu	37	1	247588522	247588522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:247588522G>A	ENST00000366497.2	+	4	2557	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	NLRP3_ENST00000391828.3_Missense_Mutation_p.E593K|NLRP3_ENST00000336119.3_Missense_Mutation_p.E593K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E593K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E593K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E593K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	593					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCTACTTGGAGAAGAAATT	0.438000													91	91					0	0	0.000781405	0	0
EPHA7	2045	broad.mit.edu	37	6	93979364	93979364	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:93979364C>T	ENST00000369303.4	-	7	1648	c.1464G>A	c.(1462-1464)cgG>cgA	p.R488R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	488	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGAGTAGGTCCGTTCCCTTT	0.368000													65	38					0	0	0.000781405	0	0
VPS18	57617	broad.mit.edu	37	15	41195020	41195020	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:41195020C>T	ENST00000220509.5	+	5	2742	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	801					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCGACCACTTCAAGGAGGCGA	0.567000													192	276					0	0	0.000781405	0	0
AK2	204	broad.mit.edu	37	1	33487220	33487220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:33487220G>A	ENST00000373449.2	-	3	345	c.304C>T	c.(304-306)Cct>Tct	p.P102S	AK2_ENST00000467905.1_Missense_Mutation_p.P102S|AK2_ENST00000354858.6_Missense_Mutation_p.P102S|AK2_ENST00000487289.1_Missense_Mutation_p.P102S|AK2_ENST00000480134.1_Missense_Mutation_p.P102S|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Missense_Mutation_p.P60S	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	102					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACAGTCCGAGGGAAGCCATCC	0.418000													42	98					0	0	0.000781405	0	0
ADA	100	broad.mit.edu	37	20	43257749	43257749	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:43257749C>A	ENST00000372874.4	-	3	291	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	ADA_ENST00000537820.1_Missense_Mutation_p.D53Y	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	53					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AGCGGCTTGTCCATGCCAATG	0.582000									Adenosine Deaminase Deficiency				236	440					2.98577e-107	4.33817e-106	0.000781405	1	0
KCNMA1	3778	broad.mit.edu	37	10	78850193	78850193	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:78850193C>T	ENST00000286627.5	-	10	2251	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	KCNMA1_ENST00000286628.8_Silent_p.R433R|KCNMA1_ENST00000372443.1_Silent_p.R433R|KCNMA1_ENST00000372440.1_Silent_p.R433R|KCNMA1_ENST00000404771.3_Silent_p.R433R|KCNMA1_ENST00000404857.1_Silent_p.R433R|KCNMA1_ENST00000354353.5_Silent_p.R433R|KCNMA1_ENST00000406533.3_Silent_p.R433R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	433	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGACGTCATCCCGGTCCTTGT	0.522000													17	49					0	0	0.000958276	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702574	27702574	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:27702574C>T	ENST00000438700.3	-	1	723	c.606G>A	c.(604-606)agG>agA	p.R202R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	202					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTCGGTGCTCCTCCTGGAGG	0.622000													276	525					0	0	0.000781405	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490491	141490491	+	Silent	SNP	C	C	T	rs150352868		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:141490491C>T	ENST00000247883.4	+	1	475	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	110					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCACGACCTTCGATCGCCCGG	0.488000													61	261					0	0	0.000781405	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960599	143960599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:143960599C>T	ENST00000292427.4	-	2	276	c.244G>A	c.(244-246)Gac>Aac	p.D82N	CYP11B1_ENST00000517471.1_Missense_Mutation_p.D82N|CYP11B1_ENST00000377675.3_Missense_Mutation_p.D127N	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	82					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)	CCTCCCAAGTCGTACCTGTGG	0.637000									Familial Hyperaldosteronism type I				228	334					0	0	0.000781405	0	0
CASP9	842	broad.mit.edu	37	1	15821896	15821896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:15821896G>A	ENST00000546424.1	-	7	1164	c.920C>T	c.(919-921)tCc>tTc	p.S307F	CASP9_ENST00000375890.4_Missense_Mutation_p.S224F|CASP9_ENST00000333868.5_Missense_Mutation_p.S307F|CASP9_ENST00000348549.5_Missense_Mutation_p.S157F			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	307					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ACTGCCAGGGGACTCGTCTTC	0.542000													30	51					0	0	0.000184323	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720043	50720043	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:50720043G>A	ENST00000449103.1	-	21	3614	c.3474C>T	c.(3472-3474)ccC>ccT	p.P1158P	PLXNB2_ENST00000359337.4_Silent_p.P1158P			O15031	PLXB2_HUMAN	plexin B2	1158					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGCCGCTTGGGCGGGGGCT	0.692000													219	382					0	0	0.000781405	0	0
WDR33	55339	broad.mit.edu	37	2	128467377	128467377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:128467377C>T	ENST00000322313.4	-	19	3520	c.3362G>A	c.(3361-3363)aGg>aAg	p.R1121K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1121					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAAACCATCCCTTCCTCTGGG	0.557000													670	1223					0	0	0.000781405	0	0
LAMB3	3914	broad.mit.edu	37	1	209796891	209796891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:209796891C>T	ENST00000391911.1	-	15	2706	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	LAMB3_ENST00000356082.4_Missense_Mutation_p.E773K|LAMB3_ENST00000367030.3_Missense_Mutation_p.E773K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	773	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GAAGACATCTCCAGCCTCAGG	0.642000													373	368					0	0	0.000781405	0	0
SHANK2	22941	broad.mit.edu	37	11	70338455	70338455	+	Silent	SNP	C	C	T	rs143774841	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:70338455C>T	ENST00000338508.4	-	29	2426	c.2427G>A	c.(2425-2427)gcG>gcA	p.A809A	SHANK2_ENST00000409530.1_Silent_p.A219A|SHANK2_ENST00000449116.2_Silent_p.A210A|SHANK2_ENST00000423696.2_Silent_p.A429A|SHANK2_ENST00000357171.3_Silent_p.A220A|SHANK2_ENST00000409161.1_Silent_p.A212A|SHANK2_ENST00000449833.2_Silent_p.A213A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	429					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTCTGAGCCCGCCGGGAAGC	0.677000													96	306					0	0	0.000781405	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643346	31643346	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:31643346C>T	ENST00000375494.3	+	1	117	c.117C>T	c.(115-117)ctC>ctT	p.L39L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	39	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										AGGATGAACTCGGCAAAGGTG	0.572000													162	332					0	0	0.000781405	0	0
LPPR4	9890	broad.mit.edu	37	1	99772125	99772125	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:99772125C>T	ENST00000370185.3	+	7	2348	c.1851C>T	c.(1849-1851)ccC>ccT	p.P617P	LPPR4_ENST00000370184.1_Silent_p.P459P|LPPR4_ENST00000457765.1_Silent_p.P559P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		617							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCATGAGCCCAGTGGGATAG	0.562000													9	16					0	0	0.000442599	0	0
CSMD2	114784	broad.mit.edu	37	1	34033349	34033349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34033349G>A	ENST00000373381.4	-	53	8400	c.8224C>T	c.(8224-8226)Cct>Tct	p.P2742S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2719	Sushi 18.					integral to membrane|plasma membrane	protein binding	p.P2719A(1)		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)				ATGGGCTCAGGAGTCCCACAG	0.537000													11	34					0	0	0.000673444	0	0
SUPT16H	11198	broad.mit.edu	37	14	21830469	21830469	+	Silent	SNP	G	G	A	rs143347467		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:21830469G>A	ENST00000216297.2	-	15	2018	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	560					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCCTTCCACGGACATACTTA	0.373000													21	47					0	0	0.000375601	0	0
TAAR2	9287	broad.mit.edu	37	6	132939186	132939186	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:132939186G>A	ENST00000275191.2	-	1	131	c.24C>T	c.(22-24)tcC>tcT	p.S8S	TAAR2_ENST00000537809.1_Silent_p.S8S|TAAR2_ENST00000367931.1_Silent_p.S53S	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	53						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TGATGAATATGGATCCTGCCA	0.403000													15	7					0	0	0.000566183	0	0
GPR161	23432	broad.mit.edu	37	1	168065809	168065809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:168065809G>A	ENST00000367838.1	-	5	1349	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	GPR161_ENST00000537209.1_Missense_Mutation_p.R366W|GPR161_ENST00000367835.1_Missense_Mutation_p.R346W|GPR161_ENST00000539777.1_Missense_Mutation_p.R268W|GPR161_ENST00000361697.2_Missense_Mutation_p.R346W|GPR161_ENST00000271357.5_Missense_Mutation_p.R346W|GPR161_ENST00000367836.1_Missense_Mutation_p.R214W|GPR161_ENST00000546300.1_Missense_Mutation_p.R232W	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	346					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AATGGTTCCCGATAATACCGG	0.527000													245	205					0	0	0.000781405	0	0
IPO7	10527	broad.mit.edu	37	11	9462133	9462133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:9462133G>A	ENST00000379719.3	+	23	2969	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	943	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GACTGCTCTGGAAGGCTATTC	0.393000													64	65					0	0	0.000781405	0	0
COL4A6	1288	broad.mit.edu	37	X	107418434	107418434	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:107418434T>G	ENST00000394872.2	-	30	3076	c.2845A>C	c.(2845-2847)Aat>Cat	p.N949H	COL4A6_ENST00000372216.4_Missense_Mutation_p.N949H|COL4A6_ENST00000334504.7_Missense_Mutation_p.N948H|COL4A6_ENST00000545689.1_Missense_Mutation_p.N948H|COL4A6_ENST00000538570.1_Missense_Mutation_p.N948H			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	949	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCCCCGGATTGCCTCTGTCT	0.517000									Alport syndrome with Diffuse Leiomyomatosis				84	32					0	0	0.000781405	0	0
TADA3	10474	broad.mit.edu	37	3	9833128	9833128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:9833128G>A	ENST00000343450.2	-	2	570	c.23C>T	c.(22-24)cCc>cTc	p.P8L	TADA3_ENST00000301964.2_Missense_Mutation_p.P8L|TADA3_ENST00000492635.1_Intron|TADA3_ENST00000440161.1_Missense_Mutation_p.P8L	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	8					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GAACTGCAAGGGGCAGTCTTT	0.567000													80	202					0	0	0.000781405	0	0
IL1R1	3554	broad.mit.edu	37	2	102792980	102792980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:102792980G>A	ENST00000410023.1	+	12	1789	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.E491K|IL1R1_ENST00000409929.1_Missense_Mutation_p.E460K|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_3'UTR			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	491	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GCTTGAGCTGGAGAAAATCCA	0.443000													45	79					0	0	0.000437636	0	0
CDK14	5218	broad.mit.edu	37	7	90741984	90741984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:90741984G>A	ENST00000406263.1	+	12	1586	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	CDK14_ENST00000265741.3_Missense_Mutation_p.E410K|CDK14_ENST00000436577.2_Missense_Mutation_p.E299K|CDK14_ENST00000380050.3_Missense_Mutation_p.E428K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	428	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ACGGCTATGGGAACTCACCGA	0.493000													16	9					0	0	0.000422831	0	0
SLC36A3	285641	broad.mit.edu	37	5	150672984	150672984	+	Silent	SNP	C	C	T	rs148484556	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150672984C>T	ENST00000335230.3	-	4	756	c.345G>A	c.(343-345)acG>acA	p.T115T	SLC36A3_ENST00000377713.3_Silent_p.T115T	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	115						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCGTACATCGTGGCCTCTC	0.438000													19	17					0	0	0.00047179	0	0
FGD2	221472	broad.mit.edu	37	6	36983600	36983600	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:36983600C>T	ENST00000274963.8	+	9	1257	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	362	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCGCCCAGTTCCAGGTGAGGA	0.612000													26	47					0	0	0.000147802	0	0
HMGA2	8091	broad.mit.edu	37	12	66308901	66308901	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:66308901G>A	ENST00000354636.3	+	4	1123	c.312G>A	c.(310-312)agG>agA	p.R104R	AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000536545.1_3'UTR|HMGA2_ENST00000541363.1_Intron|HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000393577.3_Intron	NM_003484.1	NP_003475.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	104					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GTACCAAAAGGAGTCACTGAA	0.428000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								67	191					0	0	0.000781405	0	0
SLC17A7	57030	broad.mit.edu	37	19	49940006	49940006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49940006C>T	ENST00000221485.3	-	2	286	c.115G>A	c.(115-117)Ggg>Agg	p.G39R	SLC17A7_ENST00000600601.1_5'UTR|SLC17A7_ENST00000543531.1_Missense_Mutation_p.G27R	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	39					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ACCGGGCGCCCATCCGCACTC	0.682000													210	355					0	0	0.000781405	0	0
ENKD1	84080	broad.mit.edu	37	16	67699046	67699046	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:67699046C>T	ENST00000243878.4	-	3	627	c.306G>A	c.(304-306)aaG>aaA	p.K102K	ENKD1_ENST00000602644.1_Silent_p.K102K|ENKD1_ENST00000602409.1_5'UTR	NM_032140.1	NP_115516.1			enkurin domain containing 1																		TCAGGTTCTCCTTCTCATGGT	0.597000													669	1297					0	0	0.000781405	0	0
SUOX	6821	broad.mit.edu	37	12	56398469	56398469	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56398469C>T	ENST00000394109.3	+	3	2020	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	SUOX_ENST00000356124.4_Silent_p.P432P|SUOX_ENST00000266971.3_Silent_p.P432P|SUOX_ENST00000548274.1_Silent_p.P432P|SUOX_ENST00000394115.2_Silent_p.P432P			P51687	SUOX_HUMAN	sulfite oxidase	432	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCACAGAGCCCCGGGATGGAG	0.542000													92	370					0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41465770	41465770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:41465770G>A	ENST00000400454.1	-	21	4205	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1243	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTAGGAAAACGAGTCGGGAGA	0.478000													17	16					0	0	0.000958276	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208349	104208349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:104208349C>T	ENST00000202556.9	-	11	1882	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	534	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCAGGTGGTCCCGCTGGCGGG	0.617000													538	1030					0	0	0.000781405	0	0
OR1I1	126370	broad.mit.edu	37	19	15198792	15198792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15198792G>A	ENST00000209540.2	+	1	1002	c.916G>A	c.(916-918)Ggc>Agc	p.G306S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GAAGCTCATCGGCAAAGTGGC	0.532000													35	124					0	0	0.000814825	0	0
SSH2	85464	broad.mit.edu	37	17	27975269	27975269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:27975269C>T	ENST00000269033.3	-	13	1390	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*	SSH2_ENST00000540801.1_Nonsense_Mutation_p.W440*|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	413	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCCAGATTCCAGCCATATT	0.483000													57	115					0	0	0.000781405	0	0
FRAS1	80144	broad.mit.edu	37	4	79173606	79173606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:79173606C>T	ENST00000264895.6	+	5	810	c.370C>T	c.(370-372)Cga>Tga	p.R124*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.R124*|FRAS1_ENST00000264899.6_Nonsense_Mutation_p.R124*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	124	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGGGAAGTCCGATGTACCCC	0.537000													17	42					0	0	0.000422831	0	0
RASA4B	100271927	broad.mit.edu	37	7	102136605	102136605	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:102136605G>T	ENST00000481893.1	-	16	1961	c.837C>A	c.(835-837)tcC>tcA	p.S279S	RASA4B_ENST00000465829.1_Silent_p.S351S|RASA4B_ENST00000541662.1_Silent_p.S351S|RASA4B_ENST00000306682.6_Silent_p.S279S					RAS p21 protein activator 4B											skin(1)	1						AAGACTCCACGGACTTTGAGG	0.542000													19	2748					3.86212e-05	0.00054602	0.000673444	1	0
OR10Z1	128368	broad.mit.edu	37	1	158577016	158577016	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158577016A>T	ENST00000361284.1	+	1	788	c.788A>T	c.(787-789)aAa>aTa	p.K263I		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGAGGCCCAAAGCCAGCTAC	0.488000													67	61					0	0	0.000781405	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834498	101834498	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:101834498C>T	ENST00000506729.1	-	1	222	c.51G>A	c.(49-51)agG>agA	p.R17R	SLCO6A1_ENST00000389019.3_Silent_p.R17R|SLCO6A1_ENST00000379807.3_Silent_p.R17R|SLCO6A1_ENST00000379810.1_Silent_p.R17R|SLCO6A1_ENST00000513675.1_Silent_p.R17R			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	17						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCTCTACTCCCCTTGAGACTT	0.677000													199	950					0	0	0.000781405	0	0
OR2W1	26692	broad.mit.edu	37	6	29012512	29012512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29012512C>T	ENST00000377175.1	-	1	505	c.441G>A	c.(439-441)atG>atA	p.M147I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TACTCCAGATCATGATAATCA	0.373000													74	122					0	0	0.000781405	0	0
H1FNT	341567	broad.mit.edu	37	12	48723366	48723366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:48723366G>A	ENST00000335017.1	+	1	604	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	98					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGCCGCCACGAAGCGCCCAG	0.662000													114	151					0	0	0.000781405	0	0
MOG	4340	broad.mit.edu	37	6	29627395	29627395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29627395C>T	ENST00000376894.4	+	2	506	c.388C>T	c.(388-390)Cga>Tga	p.R130*	MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Nonsense_Mutation_p.R130*|MOG_ENST00000376902.3_Nonsense_Mutation_p.R130*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R130*|MOG_ENST00000376891.4_Nonsense_Mutation_p.R130*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R130*|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Nonsense_Mutation_p.R130*|MOG_ENST00000533330.2_Nonsense_Mutation_p.R130*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R130*|MOG_ENST00000376917.3_Nonsense_Mutation_p.R130*|MOG_ENST00000431798.2_Nonsense_Mutation_p.R130*|MOG_ENST00000469603.1_3'UTR			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	130	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTGCTTCTTCCGAGATCATTC	0.453000													42	88					0	0	0.000509022	0	0
DUOX2	50506	broad.mit.edu	37	15	45398743	45398743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:45398743G>A	ENST00000389039.6	-	16	2313	c.1928C>T	c.(1927-1929)gCc>gTc	p.A643V	DUOX2_ENST00000603300.1_Missense_Mutation_p.A643V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	643					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCATCTTTGGCTGCTTCCTT	0.552000													370	796					0	0	0.000781405	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617633	54617633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:54617633G>A	ENST00000302287.3	+	4	810	c.404G>A	c.(403-405)gGg>gAg	p.G135E	VSTM2A_ENST00000404951.1_Missense_Mutation_p.G135E|VSTM2A_ENST00000407838.3_Missense_Mutation_p.G135E|VSTM2A_ENST00000402026.2_Missense_Mutation_p.G134E|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.G135E			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	135	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCAACTACGGGGAGCTTCAG	0.522000													88	117					0	0	0.000781405	0	0
GBP4	115361	broad.mit.edu	37	1	89655736	89655736	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:89655736G>A	ENST00000355754.6	-	7	1279	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	394						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCTTCTTCTGGAATTCATGGT	0.478000													71	102					0	0	0.000781405	0	0
C5orf20	140947	broad.mit.edu	37	5	134782188	134782188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:134782188G>A	ENST00000503143.2	-	1	850	c.611C>T	c.(610-612)tCt>tTt	p.S204F	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	204	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGTGCGAAGACCAGGCCCT	0.527000													113	50					0	0	0.000781405	0	0
FAM109B	150368	broad.mit.edu	37	22	42473325	42473325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42473325C>T	ENST00000321753.3	+	3	215	c.28C>T	c.(28-30)Cac>Tac	p.H10Y		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	10					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GAGTGTAGCCCACTATGCACT	0.647000													240	452					0	0	0.000781405	0	0
ROS1	6098	broad.mit.edu	37	6	117687279	117687279	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:117687279A>G	ENST00000368508.3	-	18	2970	c.2772T>C	c.(2770-2772)aaT>aaC	p.N924N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.N919N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	924					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGTGAACTGATTAAATCTGG	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								204	106					0	0	0.000781405	0	0
CCL21	6366	broad.mit.edu	37	9	34709556	34709556	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:34709556C>T	ENST00000259607.2	-	3	369	c.312G>A	c.(310-312)agG>agA	p.R104R	CCL21_ENST00000378792.1_Silent_p.R104R	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	104	C-terminal basic extension.				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCCTGTCCTTCCTGCAGCCCT	0.582000													147	280					0	0	0.000781405	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139830	55139830	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:55139830C>T	ENST00000257290.5	+	10	1822	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	497	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAGACCATCGCCGTGCGAT	0.547000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			24	131					0	0	0.000295444	0	0
C1orf172	126695	broad.mit.edu	37	1	27277248	27277248	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:27277248C>T	ENST00000320567.5	-	3	1128		c.e3-1			NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172											NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		ACTGTCAGCTCTAGGGAGGGA	0.562000													256	424					0	0	0.000781405	0	0
C6orf211	79624	broad.mit.edu	37	6	151789520	151789520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:151789520G>A	ENST00000367294.3	+	5	860	c.601G>A	c.(601-603)Gga>Aga	p.G201R	C6orf211_ENST00000545879.1_Missense_Mutation_p.G82R	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	201							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TCTCTCAGGTGGAGAAAGTAG	0.348000													93	46					0	0	0.000781405	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206788	104206788	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:104206788G>A	ENST00000202556.9	-	12	2247	c.1965C>T	c.(1963-1965)gcC>gcT	p.A655A	PPP1R13B_ENST00000423488.2_Silent_p.A74A|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	655	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTGCGGGGGCGGCGGGGCCAT	0.647000													392	758					0	0	0.000781405	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827660	14827660	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:14827660C>A	ENST00000261170.3	-	8	1119	c.983G>T	c.(982-984)gGa>gTa	p.G328V	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	328					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GAGCAGGATTCCATTCAAATA	0.348000													21	42					2.4624e-09	3.51955e-08	0.000132079	1	0
SLC1A5	6510	broad.mit.edu	37	19	47285682	47285682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:47285682G>A	ENST00000542575.2	-	4	1410	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SLC1A5_ENST00000412532.2_Missense_Mutation_p.S33F|SLC1A5_ENST00000434726.2_Missense_Mutation_p.S59F|SLC1A5_ENST00000594991.1_Missense_Mutation_p.S85F	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	261					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTCATTGAAGGAGTTGAAGAA	0.597000													303	523					0	0	0.000781405	0	0
DDX52	11056	broad.mit.edu	37	17	36003412	36003412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:36003412C>T	ENST00000349699.2	-	1	81	c.38G>A	c.(37-39)gGg>gAg	p.G13E	DDX52_ENST00000394367.3_5'UTR|RP11-697E22.2_ENST00000586163.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	13						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GAATTTGGCCCCCGCGCCGAG	0.627000													42	157					0	0	0.000589545	0	0
GCN1L1	10985	broad.mit.edu	37	12	120578756	120578756	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:120578756G>A	ENST00000300648.6	-	45	5913	c.5901C>T	c.(5899-5901)atC>atT	p.I1967I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1967					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)					CTTCCTCAAGGATGGGGATGA	0.527000													171	562					0	0	0.000781405	0	0
MN1	4330	broad.mit.edu	37	22	28196393	28196393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:28196393G>A	ENST00000302326.4	-	1	1093	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	47							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGATCCACAGGGCCAGGGGGC	0.647000			T	ETV6	"""AML, meningioma"""								295	510					0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104033936	104033936	+	Silent	SNP	C	C	T	rs144975292		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:104033936C>T	ENST00000388887.2	+	9	1146	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	314					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.F314F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGAATTTCGTACCTGGAG	0.448000													221	256					0	0	0.000781405	0	0
TEKT4	150483	broad.mit.edu	37	2	95537595	95537595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:95537595G>A	ENST00000295201.4	+	1	408	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	TEKT4_ENST00000427593.2_Missense_Mutation_p.V91M|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	91					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACGCGCACAGTGGGCGAGCG	0.687000													54	126					0	0	0.000781405	0	0
CACNG1	786	broad.mit.edu	37	17	65041002	65041002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:65041002G>A	ENST00000226021.3	+	1	297	c.226G>A	c.(226-228)Ggg>Agg	p.G76R		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	76					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CACCCTGCCCGGGGGTAACGT	0.642000													58	129					0	0	0.000781405	0	0
FASN	2194	broad.mit.edu	37	17	80053275	80053275	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:80053275G>A	ENST00000306749.2	-	3	419	c.201C>T	c.(199-201)gtC>gtT	p.V67V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	67	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCTTGGGGTGGACTCCGAAGA	0.617000													233	362					0	0	0.000781405	0	0
HTR5A	3361	broad.mit.edu	37	7	154863154	154863154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:154863154G>A	ENST00000287907.2	+	1	1121	c.545G>A	c.(544-546)gGa>gAa	p.G182E	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	182						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTTGGCTGGGGAGAGACGTAC	0.632000													147	247					0	0	0.000781405	0	0
MFSD1	64747	broad.mit.edu	37	3	158519991	158519991	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:158519991A>T	ENST00000415822.2	+	1	338	c.197A>T	c.(196-198)gAc>gTc	p.D66V	MFSD1_ENST00000392813.4_Missense_Mutation_p.D66V|MFSD1_ENST00000264266.8_Missense_Mutation_p.D17V	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	17					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCGGCCCTGACGAGGCCGAC	0.692000													102	159					0	0	0.000781405	0	0
LPIN1	23175	broad.mit.edu	37	2	11913802	11913802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:11913802C>T	ENST00000256720.2	+	5	746	c.653C>T	c.(652-654)tCc>tTc	p.S218F	LPIN1_ENST00000396098.1_Missense_Mutation_p.S224F|LPIN1_ENST00000449576.2_Missense_Mutation_p.S267F|LPIN1_ENST00000425416.2_Missense_Mutation_p.S224F|LPIN1_ENST00000396099.1_Missense_Mutation_p.S224F	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	218					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAAAACCTCTCCCTGGCTGTG	0.443000													431	709					0	0	0.000781405	0	0
MYO9B	4650	broad.mit.edu	37	19	17306163	17306163	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17306163C>A	ENST00000595618.1	+	22	4079	c.3927C>A	c.(3925-3927)gcC>gcA	p.A1309A	MYO9B_ENST00000594824.1_Silent_p.A1309A|MYO9B_ENST00000397274.2_Silent_p.A1309A	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1309	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGCCAGCGCCGTGGAACTGT	0.687000													8	403					3.86212e-05	0.00054602	0.000673444	1	0
PPP1R10	5514	broad.mit.edu	37	6	30569809	30569809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:30569809G>A	ENST00000376511.2	-	19	3169	c.2617C>T	c.(2617-2619)Cga>Tga	p.R873*		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	873	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGCGGCCCTCGATGGTCATGG	0.682000													144	236					0	0	0.000781405	0	0
PTPRD	5789	broad.mit.edu	37	9	8331706	8331706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:8331706G>A	ENST00000381196.4	-	41	5953	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*	PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q1791*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q1782*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q1804*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q1394*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q1397*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q1394*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q1397*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q1398*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q1804*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q1397*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1804	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCAGTGAACTGGAACTGCCTT	0.512000										TSP Lung(15;0.13)			10	14					0	0	0.000673444	0	0
HMCN1	83872	broad.mit.edu	37	1	186052055	186052055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:186052055C>T	ENST00000271588.4	+	57	9075	c.8846C>T	c.(8845-8847)gCt>gTt	p.A2949V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A2949V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2949	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAACACAGCTGGGAGTGCC	0.348000													6	11					0	0	3.59834e-05	0	0
NRXN1	9378	broad.mit.edu	37	2	50699459	50699459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:50699459C>T	ENST00000404971.1	-	17	4680	c.3341G>A	c.(3340-3342)gGa>gAa	p.G1114E	NRXN1_ENST00000406859.3_Missense_Mutation_p.G1074E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G1074E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1066E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1066E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1074E|NRXN1_ENST00000401710.1_Missense_Mutation_p.G83E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1074	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G1115V(1)|p.G1114V(1)|p.G1074V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCGATCTGTCCGTTGCAGAA	0.438000													20	32					0	0	0.000175454	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486463	76486463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:76486463C>T	ENST00000307431.8	+	9	1512	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S380F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S304F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S328F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	377					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTCTGAGCTCCAGGAGTTAT	0.413000													99	152					0	0	0.000781405	0	0
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56369416C>T	ENST00000301295.6	+	3	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_ENST00000587891.1_Silent_p.I144I|NLRP4_ENST00000346986.5_Silent_p.I219I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	219	NACHT.						ATP binding	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537000													105	225					0	0	0.000781405	0	0
KDM5A	5927	broad.mit.edu	37	12	463244	463244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:463244C>T	ENST00000399788.2	-	8	1389	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E343K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	343					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACGTGTACCTCGGCGACACAT	0.373000			T	NUP98	AML								21	66					0	0	0.000229342	0	0
PLCH1	23007	broad.mit.edu	37	3	155200553	155200553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:155200553C>T	ENST00000460012.1	-	23	3529	c.3172G>A	c.(3172-3174)Gtt>Att	p.V1058I	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.V1058I|PLCH1_ENST00000414191.1_Missense_Mutation_p.V1058I|PLCH1_ENST00000340059.7_Missense_Mutation_p.V1096I|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1096					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGGGTTAACTACAGGATCG	0.498000													266	676					0	0	0.000781405	0	0
MYH8	4626	broad.mit.edu	37	17	10318681	10318681	+	Silent	SNP	G	G	A	rs140722284		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:10318681G>A	ENST00000403437.2	-	8	763	c.669C>T	c.(667-669)atC>atT	p.I223I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	223	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGCGCTGATGATTTGATCTT	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				54	28					0	0	0.000781405	0	0
PLCH2	9651	broad.mit.edu	37	1	2411717	2411717	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:2411717A>G	ENST00000449969.1	+	4	691	c.530A>G	c.(529-531)aAc>aGc	p.N177S	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.N204S|PLCH2_ENST00000419816.2_Missense_Mutation_p.N204S|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.N204S			O75038	PLCH2_HUMAN	phospholipase C, eta 2	204	EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTCAACGTGAACCTGCCCCGG	0.637000													335	566					0	0	0.000781405	0	0
SHROOM2	357	broad.mit.edu	37	X	9914785	9914785	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:9914785C>T	ENST00000380913.3	+	10	4749	c.4659C>T	c.(4657-4659)gaC>gaT	p.D1553D	SHROOM2_ENST00000418909.2_Silent_p.D388D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1553	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGAACCTGGACCGCCGCGAGC	0.547000													84	19					0	0	0.000781405	0	0
CLRN1	7401	broad.mit.edu	37	3	150645793	150645793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:150645793C>T	ENST00000327047.1	-	3	919	c.629G>A	c.(628-630)gGa>gAa	p.G210E	CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.G223E|CLRN1_ENST00000295911.2_Intron	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	210					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAACTGAAATCCAGCAAGTCG	0.363000													57	100					0	0	0.000781405	0	0
FYCO1	79443	broad.mit.edu	37	3	46011172	46011172	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46011172G>A	ENST00000296137.2	-	7	830	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	FYCO1_ENST00000535325.1_Silent_p.L209L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	209					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTTACCTGCAGGTAGCTGCTC	0.562000													104	191					0	0	0.000781405	0	0
PTGFR	5737	broad.mit.edu	37	1	78958572	78958572	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:78958572C>T	ENST00000370756.3	+	2	381	c.144C>T	c.(142-144)atC>atT	p.I48I	PTGFR_ENST00000370758.1_Silent_p.I48I|PTGFR_ENST00000370757.3_Silent_p.I48I	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	48					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCCTTGCCATCGCCATTCTCA	0.453000													305	536					0	0	0.000781405	0	0
DSC1	1823	broad.mit.edu	37	18	28711788	28711788	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28711788G>A	ENST00000257197.3	-	15	2517	c.2256C>T	c.(2254-2256)ctC>ctT	p.L752L	RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257198.5_Silent_p.L752L|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	752					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTGCATGGGGAGTCTAATAT	0.368000													22	37					0	0	0.000229342	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929997	32929997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:32929997C>T	ENST00000361627.3	+	12	3745	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.P819L|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.P819L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	1008					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CCAAAACATCCTATCGGAAAA	0.353000													44	93					0	0	0.000509022	0	0
KCND2	3751	broad.mit.edu	37	7	119915161	119915161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:119915161G>A	ENST00000331113.4	+	1	1440	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	159					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CACCGCTGGGGAGAGCGCCTT	0.627000													190	352					0	0	0.000781405	0	0
SNRPA	6626	broad.mit.edu	37	19	41263308	41263308	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41263308C>T	ENST00000243563.3	+	2	695	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	49	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATCACGGAGCCTGAAGATGAG	0.527000													138	211					0	0	0.000781405	0	0
TC2N	123036	broad.mit.edu	37	14	92258712	92258712	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:92258712G>A	ENST00000435962.2	-	9	1369	c.1047_splice	c.e9+1	p.S349_splice	TC2N_ENST00000360594.5_Splice_Site_p.S349_splice|TC2N_ENST00000340892.5_Splice_Site_p.S349_splice|TC2N_ENST00000556018.1_Intron	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	349						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATCGCTTACAGAAATTTTTGA	0.358000													87	182					0	0	0.000781405	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518290	85518290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:85518290G>A	ENST00000393217.2	+	17	4061	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334								p.E1334*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAGCCTAGTGAAAAAATGTA	0.328000													132	176					0	0	0.000781405	0	0
ZNF80	7634	broad.mit.edu	37	3	113955906	113955906	+	Missense_Mutation	SNP	C	C	T	rs150485238	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:113955906C>T	ENST00000482457.2	-	1	519	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	6						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D6N(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CCCAACCCATCGCGTTTAGGG	0.537000													310	547					0	0	0.000781405	0	0
ZNF451	26036	broad.mit.edu	37	6	57006886	57006886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:57006886C>T	ENST00000370706.4	+	9	1241	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H333Y|ZNF451_ENST00000491832.2_Missense_Mutation_p.H333Y|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCTCACTGCCCATTTCAGGTT	0.433000													45	60					0	0	0.000781405	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561641	84561641	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:84561641G>A	ENST00000286744.5	+	13	1691		c.e13+1		ADAMTSL3_ENST00000567476.1_Splice_Site	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGGTCTCAGGTAAGATTTGA	0.398000													14	32					0	0	0.000151284	0	0
HCFC2	29915	broad.mit.edu	37	12	104461791	104461791	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:104461791C>A	ENST00000229330.4	+	3	483	c.379C>A	c.(379-381)Cgg>Agg	p.R127R		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	127					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTGTCCTCGGCTTGGACA	0.423000													11	1070					0.000274275	0.00383431	0.000274275	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101751	69101751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:69101751C>T	ENST00000332644.5	-	4	438	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	93	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TTGACATATTCCTTATATATA	0.254000													22	18					0	0	0.000375601	0	0
PYGM	5837	broad.mit.edu	37	11	64525731	64525731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64525731G>A	ENST00000164139.3	-	4	913	c.515C>T	c.(514-516)tCc>tTc	p.S172F	PYGM_ENST00000377432.3_Missense_Mutation_p.S84F	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	172					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCAGCCCCCGGAGATCTTCTG	0.552000													262	881					0	0	0.000781405	0	0
COL11A2	1302	broad.mit.edu	37	6	33146224	33146224	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:33146224C>T	ENST00000341947.2	-	19	1988	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	COL11A2_ENST00000361917.1_Silent_p.E480E|COL11A2_ENST00000374714.1_Silent_p.E561E|COL11A2_ENST00000374712.1_Silent_p.E506E|COL11A2_ENST00000395197.1_Silent_p.E527E|COL11A2_ENST00000357486.1_Silent_p.E566E|COL11A2_ENST00000374708.4_Silent_p.E501E|COL11A2_ENST00000374713.1_Silent_p.E540E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	587	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTCTCCATCCTCACCAGGGG	0.592000													562	866					0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117685236	117685236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:117685236C>T	ENST00000317775.6	-	18	3425	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	NOS1_ENST00000338101.4_Missense_Mutation_p.E948K|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	914	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E914K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGATCCTCTCCCCTCCCAGT	0.557000													28	93					0	0	0.000878237	0	0
ZNF536	9745	broad.mit.edu	37	19	30936358	30936358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:30936358C>T	ENST00000355537.3	+	2	2036	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGGAGAAGCCCACCGAGTGC	0.602000													384	876					0	0	0.000781405	0	0
AXIN1	8312	broad.mit.edu	37	16	347065	347065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:347065G>A	ENST00000262320.3	-	7	2317	c.1946C>T	c.(1945-1947)aCc>aTc	p.T649I	AXIN1_ENST00000354866.3_Missense_Mutation_p.T649I	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	649	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCCGTGGCCGGTCCTGCGGTG	0.627000													627	980					0	0	0.000781405	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950818	43950818	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:43950818C>T	ENST00000262726.7	-	27	3832	c.3579G>A	c.(3577-3579)acG>acA	p.T1193T	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.T1041T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1193	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.T1193T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGATGGTGTTCGTTTTCATGG	0.522000													288	448					0	0	0.000781405	0	0
LRRC20	55222	broad.mit.edu	37	10	72061171	72061171	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:72061171G>T	ENST00000355790.4	-	5	971	c.494C>A	c.(493-495)cCg>cAg	p.P165Q	LRRC20_ENST00000358141.2_Missense_Mutation_p.P115Q|LRRC20_ENST00000395010.1_Missense_Mutation_p.P109Q|LRRC20_ENST00000395011.1_Missense_Mutation_p.P115Q|LRRC20_ENST00000373224.1_Missense_Mutation_p.P165Q	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	165										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GATGAGCGGCGGGGCGATCAC	0.637000													8	837					0.000602214	0.00835775	0.000602214	1	0
GRID1	2894	broad.mit.edu	37	10	87362080	87362080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:87362080C>T	ENST00000327946.7	-	16	3065	c.2980G>A	c.(2980-2982)Gga>Aga	p.G994R	GRID1_ENST00000536331.1_Missense_Mutation_p.G565R|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	994						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGGACGCCTCCAGGCACGGGC	0.677000										Multiple Myeloma(13;0.14)			98	155					0	0	0.000781405	0	0
RHD	6007	broad.mit.edu	37	1	25655547	25655547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:25655547G>A	ENST00000342055.5	+	9	1402	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	RHD_ENST00000417538.2_3'UTR|RHD_ENST00000423810.2_3'UTR|RHD_ENST00000454452.2_3'UTR|RHD_ENST00000568195.1_Missense_Mutation_p.E438K|RHD_ENST00000328664.4_3'UTR|RHD_ENST00000357542.4_3'UTR			Q02161	RHD_HUMAN	Rh blood group, D antigen	0						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		tggagtcagagaaaatggagt	0.423000													54	13					0	0	0.000781405	0	0
CREB3L1	90993	broad.mit.edu	37	11	46332654	46332654	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:46332654C>A	ENST00000529193.1	+	5	1118	c.667C>A	c.(667-669)Cgc>Agc	p.R223S	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R223S			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	223					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CCAGAGTCCCCGCTCTCTGCC	0.687000			T	FUS	myxofibrosarcoma								7	446					8.12818e-05	0.00114517	8.12818e-05	1	0
AMZ1	155185	broad.mit.edu	37	7	2748707	2748707	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:2748707A>G	ENST00000312371.4	+	5	969		c.e5-1		AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1								metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		ATCTCTCTCCAGAAGTGGGCG	0.652000													99	218					0	0	0.000781405	0	0
PGR	5241	broad.mit.edu	37	11	100999653	100999653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:100999653G>A	ENST00000325455.5	-	1	1602	c.149C>T	c.(148-150)gCc>gTc	p.A50V	PGR_ENST00000263463.5_Missense_Mutation_p.A50V|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	50	Modulating, Pro-Rich.		A -> T (in dbSNP:rs11571143).		cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GATAGGTATGGCCGAAACTTC	0.677000													116	121					0	0	0.000781405	0	0
OR4M1	441670	broad.mit.edu	37	14	20248579	20248579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20248579C>T	ENST00000315957.4	+	1	179	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTCTATCCTTCTATTTG	0.413000													91	347					0	0	0.000781405	0	0
ACRBP	84519	broad.mit.edu	37	12	6753378	6753378	+	Missense_Mutation	SNP	C	C	T	rs150132385		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:6753378C>T	ENST00000229243.2	-	5	962	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	ACRBP_ENST00000414226.2_Missense_Mutation_p.R257Q|ACRBP_ENST00000536350.1_Missense_Mutation_p.R290Q	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	290						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGGGCTGATCGAATGAGCTC	0.428000													290	334					0	0	0.000781405	0	0
F8	2157	broad.mit.edu	37	X	154159546	154159546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:154159546G>A	ENST00000360256.4	-	14	2719	c.2519C>T	c.(2518-2520)tCa>tTa	p.S840L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	840	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGCTCCAGGTGATGGATCATC	0.463000													36	14					0	0	0.000814825	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822030	93822030	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:93822030G>A	ENST00000315765.9	+	12	2198	c.2190G>A	c.(2188-2190)ggG>ggA	p.G730G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	730					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCGGTACGGGATGATAAGAA	0.527000													136	181					0	0	0.000781405	0	0
CST8	10047	broad.mit.edu	37	20	23472502	23472502	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:23472502C>T	ENST00000246012.1	+	2	555	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	66						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTATGTCTTCCTGGTGGTCA	0.463000													42	75					0	0	0.000374591	0	0
WBP1L	54838	broad.mit.edu	37	10	104572834	104572834	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:104572834C>A	ENST00000369889.4	+	4	917	c.775C>A	c.(775-777)Cgg>Agg	p.R259R	WBP1L_ENST00000448841.1_Silent_p.R280R	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	259						integral to membrane											TGTGTGCAACCGGGGCCACCA	0.592000													13	531					0.000308642	0.00431104	0.000308642	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43847717	43847717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:43847717G>A	ENST00000389420.3	-	12	1752	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R585C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	585	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TACTCAGGACGATTACAGCGC	0.418000													9	7					0	0	0.000274275	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103025222	103025222	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:103025222C>T	ENST00000375735.2	+	23	3489	c.3345C>T	c.(3343-3345)tcC>tcT	p.S1115S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.S1115S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1115	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTAATTTCTCCCTGGCAAGTA	0.333000													6	10					0	0	0.000274275	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62801205	62801205	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:62801205C>T	ENST00000582986.1	-	0	627					NR_024386.1																						CTCTGAGATCCAGCTCTTGTT	0.488000													64	116					0	0	0.000781405	0	0
CACNG4	27092	broad.mit.edu	37	17	65021002	65021002	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:65021002C>G	ENST00000262138.3	+	3	333	c.331C>G	c.(331-333)Ccc>Gcc	p.P111A		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	111					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CAGCGTCTTCCCCATCCTCAG	0.642000													278	653					0	0	0.000781405	0	0
ARAP2	116984	broad.mit.edu	37	4	36230836	36230836	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:36230836C>T	ENST00000303965.4	-	2	762	c.273G>A	c.(271-273)aaG>aaA	p.K91K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	91					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATGGTAATCCTTTGAAGGGT	0.363000													69	61					0	0	0.000781405	0	0
LOXL2	4017	broad.mit.edu	37	8	23167372	23167372	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:23167372C>T	ENST00000389131.3	-	10	2058	c.1689G>A	c.(1687-1689)ctG>ctA	p.L563L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	563	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCGGTCCTCCAGGTAGGTGG	0.662000													210	385					0	0	0.000781405	0	0
FGD1	2245	broad.mit.edu	37	X	54496554	54496554	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:54496554G>A	ENST00000375135.3	-	4	1729	c.996C>T	c.(994-996)tcC>tcT	p.S332S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	332					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAACCTCTTGGGAGCCAGGCC	0.647000													120	29					0	0	0.000781405	0	0
A1CF	29974	broad.mit.edu	37	10	52575934	52575934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:52575934C>T	ENST00000395489.2	-	11	1348	c.952G>A	c.(952-954)Gga>Aga	p.G318R	A1CF_ENST00000373995.3_Missense_Mutation_p.G333R|A1CF_ENST00000374001.1_Missense_Mutation_p.G325R|A1CF_ENST00000373997.3_Missense_Mutation_p.G325R|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.G325R|A1CF_ENST00000395495.1_Missense_Mutation_p.G270R|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.G325R	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	325					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTATACTCTCCTTGCAGCATG	0.522000													3	17					0	0	6.4e-05	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993989	143993989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:143993989C>T	ENST00000323110.2	-	8	1357	c.1355G>A	c.(1354-1356)gGg>gAg	p.G452E		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	452					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Candesartan(DB00796)|Metyrapone(DB01011)	CAGGCGCCGCCCGAGGCACTG	0.682000									Familial Hyperaldosteronism type I				199	402					0	0	0.000781405	0	0
CNPY2	10330	broad.mit.edu	37	12	56705059	56705059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56705059G>A	ENST00000273308.4	-	4	884	c.344C>T	c.(343-345)tCc>tTc	p.S115F	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.S115F	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	115	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CAGTTCACTGGATTCTCCATT	0.512000													285	887					0	0	0.000781405	0	0
SLC17A7	57030	broad.mit.edu	37	19	49940005	49940005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49940005C>T	ENST00000221485.3	-	2	287	c.116G>A	c.(115-117)gGg>gAg	p.G39E	SLC17A7_ENST00000600601.1_5'UTR|SLC17A7_ENST00000543531.1_Missense_Mutation_p.G27E	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	39					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CACCGGGCGCCCATCCGCACT	0.682000													211	356					0	0	0.000781405	0	0
HGD	3081	broad.mit.edu	37	3	120394644	120394644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:120394644C>T	ENST00000283871.5	-	2	541	c.82G>A	c.(82-84)Gga>Aga	p.G28R	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	28					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CATACCTGTCCTTCTGGCAGG	0.488000													27	34					0	0	0.000227799	0	0
ZNF98	148198	broad.mit.edu	37	19	22574359	22574359	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:22574359T>A	ENST00000357774.5	-	4	1799	c.1678A>T	c.(1678-1680)Aag>Tag	p.K560*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGGAAATCTTTGCAATGTTG	0.328000													7	6					0	0	0.000274275	0	0
CALB1	793	broad.mit.edu	37	8	91094270	91094270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:91094270C>T	ENST00000265431.3	-	2	321	c.140G>A	c.(139-141)cGa>cAa	p.R47Q		NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	47						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AGCCTTCTTTCGCGCCTGCTG	0.443000													400	674					0	0	0.000781405	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	331					0	0	3.59834e-05	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681102	73681102	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:73681102C>T	ENST00000339764.1	+	8	1645	c.894C>T	c.(892-894)ttC>ttT	p.F298F	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_Silent_p.F123F|DNAJB13_ENST00000543947.1_Silent_p.F123F	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	298					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACATCCAGTTCCCCACCCGCC	0.597000													381	388					0	0	0.000781405	0	0
KCNK13	56659	broad.mit.edu	37	14	90650963	90650963	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:90650963C>T	ENST00000282146.4	+	2	1284	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	281						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATCTCTATCCTCATCAAAC	0.522000													106	175					0	0	0.000781405	0	0
YARS2	51067	broad.mit.edu	37	12	32908050	32908050	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:32908050G>T	ENST00000324868.8	-	1	786	c.759C>A	c.(757-759)tcC>tcA	p.S253S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	253					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ACTCATATCCGGACATGATGT	0.458000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	1769					0	0	6.4e-05	1	0
CCNB3	85417	broad.mit.edu	37	X	50094252	50094252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:50094252G>A	ENST00000376042.1	+	12	4271	c.3973G>A	c.(3973-3975)Gag>Aag	p.E1325K	CCNB3_ENST00000276014.7_Missense_Mutation_p.E1325K|CCNB3_ENST00000348603.2_Missense_Mutation_p.E221K|CCNB3_ENST00000376038.1_Missense_Mutation_p.E221K			Q8WWL7	CCNB3_HUMAN	cyclin B3	1325					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCCCTTCCTGGAGCATTACAG	0.473000													76	20					0	0	0.000781405	0	0
PRRG3	79057	broad.mit.edu	37	X	150868507	150868507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:150868507G>A	ENST00000370353.3	+	3	437	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PRRG3_ENST00000370354.1_Missense_Mutation_p.R24Q|PRRG3_ENST00000538575.1_Missense_Mutation_p.R16Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	16						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGAAACGATTCCCTCGT	0.587000													175	61					0	0	0.000781405	0	0
ALPL	249	broad.mit.edu	37	1	21894683	21894683	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:21894683G>A	ENST00000374840.3	+	7	985	c.735G>A	c.(733-735)acG>acA	p.T245T	ALPL_ENST00000539907.1_Silent_p.T168T|ALPL_ENST00000540617.1_Silent_p.T190T|ALPL_ENST00000374832.1_Silent_p.T245T|ALPL_ENST00000425315.2_Silent_p.T245T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	245					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCAGGGGCACGAGGCTGGACG	0.552000													299	398					0	0	0.000781405	0	0
IL1R1	3554	broad.mit.edu	37	2	102792979	102792979	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:102792979G>A	ENST00000410023.1	+	12	1788	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Silent_p.L490L|IL1R1_ENST00000409929.1_Silent_p.L459L|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_3'UTR			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	490	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TGCTTGAGCTGGAGAAAATCC	0.443000													45	79					0	0	0.000437636	0	0
NOD1	10392	broad.mit.edu	37	7	30492470	30492470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:30492470G>A	ENST00000222823.4	-	6	1088	c.563C>T	c.(562-564)aCc>aTc	p.T188I	NOD1_ENST00000423334.2_Missense_Mutation_p.T188I	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	188					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GAGGATGCCGGTGGTGTGGTC	0.607000													301	415					0	0	0.000781405	0	0
TNFSF14	8740	broad.mit.edu	37	19	6670004	6670004	+	Missense_Mutation	SNP	C	C	T	rs150431195		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:6670004C>T	ENST00000326176.9	-	2	458	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	TNFSF14_ENST00000599359.1_Missense_Mutation_p.R26Q|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R26Q	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	26					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCGGTGGCTTCGTCCCAGCCT	0.637000													366	578					0	0	0.000781405	0	0
TMEM237	65062	broad.mit.edu	37	2	202501564	202501564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:202501564G>A	ENST00000409444.2	-	5	474	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	TMEM237_ENST00000409883.2_Missense_Mutation_p.P61S	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	85						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CCCTCAGAGGGCCTTCGACCA	0.443000													48	81					0	0	0.000781405	0	0
TREML4	285852	broad.mit.edu	37	6	41196546	41196546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41196546C>T	ENST00000341495.2	+	2	262	c.158C>T	c.(157-159)tCc>tTc	p.S53F	TREML4_ENST00000448827.2_Missense_Mutation_p.S53F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	53	Ig-like V-type.					extracellular region		p.S53Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCCCAAATCCTGGTGTCAG	0.527000													104	158					0	0	0.000781405	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629133	1629133	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:1629133A>G	ENST00000399685.1	-	1	560	c.483T>C	c.(481-483)tgT>tgC	p.C161C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	161	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		agcagGGCTTACAGCAGCTGG	0.617000													7	1321					0	0	3.59834e-05	0	0
GALNT2	2590	broad.mit.edu	37	1	230398330	230398330	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:230398330G>T	ENST00000366672.4	+	12	1220	c.1148G>T	c.(1147-1149)cGg>cTg	p.R383L	GALNT2_ENST00000543760.1_Missense_Mutation_p.R345L|GALNT2_ENST00000541865.1_Silent_p.P258P|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	383					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AACACCCGCCGGGCAGCAGAG	0.453000													10	891					3.86212e-05	0.00054602	0.000673444	1	0
IMPAD1	54928	broad.mit.edu	37	8	57890662	57890662	+	Missense_Mutation	SNP	A	A	T	rs76062026		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:57890662A>T	ENST00000262644.4	-	3	851	c.593T>A	c.(592-594)gTa>gAa	p.V198E		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	198						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TTTACCATTTACAGCCACACA	0.333000													122	234					0	0	0.000781405	0	0
FAM53A	152877	broad.mit.edu	37	4	1657423	1657423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:1657423C>T	ENST00000308132.6	-	4	356	c.164G>A	c.(163-165)gGa>gAa	p.G55E	FAM53A_ENST00000489363.1_Missense_Mutation_p.G55E|FAM53A_ENST00000472884.2_Missense_Mutation_p.G55E|FAM53A_ENST00000461064.1_Missense_Mutation_p.G55E	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	55						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGGCGGTCCTCCACTGAAGAC	0.607000													22	134					0	0	0.000375601	0	0
HAL	3034	broad.mit.edu	37	12	96368029	96368029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:96368029G>A	ENST00000261208.3	-	21	2323	c.1955C>T	c.(1954-1956)cCg>cTg	p.P652L	HAL_ENST00000541929.1_Missense_Mutation_p.P444L|HAL_ENST00000538703.1_3'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	652					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCAGACTCCGGGATTTTGGT	0.428000													196	605					0	0	0.000781405	0	0
SDK1	221935	broad.mit.edu	37	7	4051792	4051792	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:4051792A>T	ENST00000404826.2	+	16	2484	c.2345A>T	c.(2344-2346)aAt>aTt	p.N782I	SDK1_ENST00000389531.3_Missense_Mutation_p.N782I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	782	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGCGGACTAATCAGTCCATT	0.517000													207	409					0	0	0.000781405	0	0
ADCY5	111	broad.mit.edu	37	3	123010051	123010051	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:123010051T>C	ENST00000462833.1	-	18	4448	c.3236A>G	c.(3235-3237)aAc>aGc	p.N1079S	ADCY5_ENST00000309879.5_Missense_Mutation_p.N729S|ADCY5_ENST00000491190.1_Missense_Mutation_p.N737S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1079	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCGGAGAAGTTGGCGATGGA	0.577000													135	254					0	0	0.000781405	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128813977	128813977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:128813977G>A	ENST00000418265.1	-	12	947	c.887C>T	c.(886-888)tCc>tTc	p.S296F	RAB43_ENST00000393304.1_Silent_p.F80F|RAB43_ENST00000393307.1_Silent_p.F80F|RAB43_ENST00000315150.5_Silent_p.F80F|RAB43_ENST00000393305.1_Silent_p.F80F|RAB43_ENST00000393308.1_Silent_p.F80F|RAB43_ENST00000476465.1_Silent_p.F80F	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN		0						catalytic step 2 spliceosome											TGATGGTGCGGAACCGCTCCT	0.582000													153	220					0	0	0.000781405	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547011	37547011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:37547011G>A	ENST00000299824.1	+	11	1595	c.1406G>A	c.(1405-1407)tGg>tAg	p.W469*	PPP1R16B_ENST00000373331.2_Nonsense_Mutation_p.W427*	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	469					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACCCCGCCCTGGAGCAGCTAC	0.637000													235	396					0	0	0.000781405	0	0
CUL1	8454	broad.mit.edu	37	7	148484200	148484200	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:148484200C>T	ENST00000325222.4	+	13	1746	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	CUL1_ENST00000602748.1_Silent_p.I489I|CUL1_ENST00000409469.1_Silent_p.I489I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	489					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCAGCATGATCTCCAAGTTAA	0.468000													217	377					0	0	0.000781405	0	0
CPNE4	131034	broad.mit.edu	37	3	131624227	131624227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:131624227G>A	ENST00000512055.1	-	6	2187	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	CPNE4_ENST00000511604.1_Missense_Mutation_p.P21S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P39S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P21S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P39S			Q96A23	CPNE4_HUMAN	copine IV	21										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTCAGGCAGGGGCTGTTAAAG	0.463000													11	14					0	0	6.40141e-05	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039804	62039804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:62039804G>A	ENST00000354587.3	-	16	2049	c.1873C>T	c.(1873-1875)Ccc>Tcc	p.P625S	KCNQ2_ENST00000344462.3_Missense_Mutation_p.P613S|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P599S|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P617S|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P589S|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P617S|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P586S|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P625S|KCNQ2_ENST00000370226.1_Missense_Mutation_p.P587S			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	617					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATCATGCTGGGGTCCTCGGGC	0.706000													69	110					0	0	0.000781405	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854298	12854298	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12854298G>A	ENST00000332296.7	+	3	625	c.522G>A	c.(520-522)agG>agA	p.R174R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	174										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTACCAAAGGAGAGGTTTAG	0.418000													219	560					0	0	0.000781405	0	0
ATP7B	540	broad.mit.edu	37	13	52548574	52548574	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:52548574A>G	ENST00000242839.4	-	2	938	c.782T>C	c.(781-783)cTg>cCg	p.L261P	ATP7B_ENST00000400366.3_Missense_Mutation_p.L261P|ATP7B_ENST00000400370.3_Missense_Mutation_p.L261P|ATP7B_ENST00000542656.1_Missense_Mutation_p.L229P|ATP7B_ENST00000418097.2_Missense_Mutation_p.L261P|ATP7B_ENST00000448424.2_Missense_Mutation_p.L261P|ATP7B_ENST00000344297.5_Missense_Mutation_p.L261P|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	261	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATCTATTCTCAGTTGGAGGGT	0.423000									Wilson disease				86	109					0	0	0.000781405	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548879	28548879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:28548879G>A	ENST00000401766.2	-	2	610	c.98C>T	c.(97-99)aCc>aTc	p.T33I	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T33I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	33					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTCCCCTGGGGTGGGAACAAC	0.532000													407	605					0	0	0.000781405	0	0
OR10C1	442194	broad.mit.edu	37	6	29408527	29408527	+	Silent	SNP	C	C	T	rs138514441	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29408527C>T	ENST00000444197.2	+	1	1445	c.735C>T	c.(733-735)atC>atT	p.I245I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCACCTGATCATGGTCTCCC	0.582000													520	854					0	0	0.000781405	0	0
OR1F1	4992	broad.mit.edu	37	16	3254585	3254585	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3254585C>T	ENST00000304646.2	+	1	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGACAATTTCCTCCTAGCTG	0.502000													233	440					0	0	0.000781405	0	0
TYRP1	7306	broad.mit.edu	37	9	12698617	12698617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:12698617C>T	ENST00000388918.5	+	4	1004	c.875C>T	c.(874-876)tCc>tTc	p.S292F	TYRP1_ENST00000381137.2_Intron|TYRP1_ENST00000381136.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	292					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTCTGTGACTCCTTGGAAGAT	0.388000									Oculocutaneous Albinism				10	13					0	0	6.40141e-05	0	0
RYR1	6261	broad.mit.edu	37	19	39025372	39025372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:39025372G>A	ENST00000355481.4	+	78	11388	c.11257G>A	c.(11257-11259)Gag>Aag	p.E3753K	RYR1_ENST00000359596.3_Missense_Mutation_p.E3758K|RYR1_ENST00000360985.3_Missense_Mutation_p.E3758K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3758					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAACAGATGGAGAAGCAGAG	0.592000													65	100					0	0	0.000781405	0	0
PDZD2	23037	broad.mit.edu	37	5	32074523	32074523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:32074523C>T	ENST00000438447.1	+	18	3699	c.3311C>T	c.(3310-3312)cCc>cTc	p.P1104L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1104L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1104					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTGGGAGCCCCAGTTCCCCC	0.592000													42	203					0	0	0.000319135	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025701	50025701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:50025701C>T	ENST00000261897.1	+	3	754	c.203C>T	c.(202-204)aCc>aTc	p.T68I	PRPF40B_ENST00000548825.2_Missense_Mutation_p.T96I|PRPF40B_ENST00000380281.1_Missense_Mutation_p.T74I			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	74	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTGCCTGTCACCGCAGCGGTA	0.547000													325	428					0	0	0.000781405	0	0
DOC2A	8448	broad.mit.edu	37	16	30018571	30018571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30018571C>T	ENST00000350119.4	-	6	767	c.577G>A	c.(577-579)Gag>Aag	p.E193K	DOC2A_ENST00000564944.1_Missense_Mutation_p.E193K|DOC2A_ENST00000564979.1_Missense_Mutation_p.E193K	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	193	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ACGCGGATCTCCCCAATAAAC	0.622000													267	479					0	0	0.000781405	0	0
NLRP9	338321	broad.mit.edu	37	19	56243633	56243633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56243633C>T	ENST00000332836.2	-	2	1591	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	522						cytoplasm	ATP binding	p.E522K(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGGTTATTTCCTGCTTTAGG	0.413000													106	213					0	0	0.000781405	0	0
HERC1	8925	broad.mit.edu	37	15	64015516	64015516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:64015516C>T	ENST00000443617.2	-	19	3694	c.3607G>A	c.(3607-3609)Gga>Aga	p.G1203R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1203					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTCATTTCCAGAAAGTGCT	0.363000													6	10					0	0	8.12818e-05	0	0
LMLN	89782	broad.mit.edu	37	3	197762814	197762814	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:197762814C>T	ENST00000330198.4	+	15	1789	c.1767C>T	c.(1765-1767)caC>caT	p.H589H	LMLN_ENST00000420910.2_Silent_p.H626H|LMLN_ENST00000332636.5_Silent_p.H537H|LMLN_ENST00000482695.1_Silent_p.H574H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	589					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCTGGATTCACGATGGAAACC	0.522000													9	258					0	0	0.000274275	0	0
EFCAB13	124989	broad.mit.edu	37	17	45517911	45517911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:45517911G>A	ENST00000331493.2	+	25	3164	c.2753G>A	c.(2752-2754)aGg>aAg	p.R918K		NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		GATCTAGAAAGGCAAGCAGTG	0.303000													80	136					0	0	0.000781405	0	0
ESPL1	9700	broad.mit.edu	37	12	53664583	53664583	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:53664583G>A	ENST00000257934.4	+	5	1460		c.e5+1		ESPL1_ENST00000552462.1_Splice_Site	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)						apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGGATGACCGGTTAGTGCCCT	0.562000													124	379					0	0	0.000781405	0	0
ITGB2	3689	broad.mit.edu	37	21	46323291	46323291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46323291G>A	ENST00000397850.2	-	6	940	c.488C>T	c.(487-489)tCc>tTc	p.S163F	ITGB2_ENST00000397857.1_Missense_Mutation_p.S163F|ITGB2_ENST00000355153.4_Missense_Mutation_p.S163F|ITGB2_ENST00000397852.1_Missense_Mutation_p.S163F|ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000302347.5_Missense_Mutation_p.S163F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	163	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AATGCGGCCGGACTCGGTGAT	0.592000													347	195					0	0	0.000781405	0	0
SAMD7	344658	broad.mit.edu	37	3	169639067	169639067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:169639067G>A	ENST00000428432.2	+	4	541	c.152G>A	c.(151-153)gGa>gAa	p.G51E	SAMD7_ENST00000335556.3_Missense_Mutation_p.G51E	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	51										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCCCAATTTGGATCCTCTGTT	0.408000													69	121					0	0	0.000781405	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003629	119003629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:119003629G>A	ENST00000298472.5	+	3	412	c.269G>A	c.(268-270)gGg>gAg	p.G90E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	90					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATGGTCACCGGGAATGCTACC	0.537000													156	338					0	0	0.000781405	0	0
MERTK	10461	broad.mit.edu	37	2	112705031	112705031	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:112705031A>G	ENST00000295408.4	+	4	901	c.644A>G	c.(643-645)aAc>aGc	p.N215S	MERTK_ENST00000409780.1_Missense_Mutation_p.N39S|MERTK_ENST00000421804.2_Missense_Mutation_p.N215S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	215	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACAGCCTTCAACCTCACCTGT	0.498000													33	41					0	0	0.000409698	0	0
CHD6	84181	broad.mit.edu	37	20	40079712	40079712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:40079712C>T	ENST00000373233.3	-	23	3734	c.3557G>A	c.(3556-3558)gGg>gAg	p.G1186E	CHD6_ENST00000309279.7_Missense_Mutation_p.G669E	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1186					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTCTTCTTCCCCTTCCTCCC	0.522000													31	54					0	0	0.000339439	0	0
REG1B	5968	broad.mit.edu	37	2	79313493	79313493	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:79313493C>T	ENST00000305089.3	-	4	401	c.321_splice	c.e4+1	p.K107_splice		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	107	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCAGACTGACCTTTTTTGGGT	0.483000													7	22					0	0	0.000274275	0	0
MID1	4281	broad.mit.edu	37	X	10427726	10427726	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:10427726C>T	ENST00000317552.4	-	8	1807	c.1407G>A	c.(1405-1407)gcG>gcA	p.A469A	MID1_ENST00000380785.1_Silent_p.A469A|MID1_ENST00000380780.1_Silent_p.A469A|MID1_ENST00000453318.2_Silent_p.A469A|MID1_ENST00000380779.1_Silent_p.A469A|MID1_ENST00000380782.2_Silent_p.A469A|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Silent_p.A469A	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	469	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGCGGCTGCCCGCCTGGTTGA	0.522000													43	10					0	0	0.000509022	0	0
AKNA	80709	broad.mit.edu	37	9	117108962	117108962	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:117108962G>T	ENST00000307564.4	-	17	3662	c.3501C>A	c.(3499-3501)ctC>ctA	p.L1167L	AKNA_ENST00000223791.3_Silent_p.L627L|AKNA_ENST00000374088.3_Silent_p.L1167L|AKNA_ENST00000374079.4_Silent_p.L112L|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Silent_p.L1086L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGACAGTCGGAGCACCTCCC	0.562000													156	116					3.43557e-86	4.98057e-85	0.000781405	1	0
LPA	4018	broad.mit.edu	37	6	160999693	160999693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:160999693G>A	ENST00000447678.1	-	28	4453	c.4333C>T	c.(4333-4335)Cgc>Tgc	p.R1445C	LPA_ENST00000316300.5_Missense_Mutation_p.R1445C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3953	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACCAAGGGCGAATCTCAGCA	0.502000													15	7					0	0	0.000422831	0	0
BANK1	55024	broad.mit.edu	37	4	102946496	102946496	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:102946496T>C	ENST00000504592.1	+	13	1797	c.1379T>C	c.(1378-1380)gTt>gCt	p.V460A	BANK1_ENST00000322953.4_Missense_Mutation_p.V475A|BANK1_ENST00000508653.1_Missense_Mutation_p.V342A|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000444316.2_Missense_Mutation_p.V445A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Missense_Mutation_p.V342A			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	475					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CCACTAGAGGTTGGCAGTGAG	0.473000													52	33					0	0	0.000781405	0	0
MYOCD	93649	broad.mit.edu	37	17	12639528	12639528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:12639528G>A	ENST00000425538.1	+	6	666	c.466G>A	c.(466-468)Gac>Aac	p.D156N	MYOCD_ENST00000395988.1_Missense_Mutation_p.D60N|MYOCD_ENST00000343344.4_Missense_Mutation_p.D156N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	156	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTTGAAGAGGACAGCAGCAG	0.537000													133	121					0	0	0.000781405	0	0
POLDIP3	84271	broad.mit.edu	37	22	42981923	42981923	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42981923C>T	ENST00000252115.5	-	9	1244	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.R351R|POLDIP3_ENST00000451060.2_3'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	380					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CAGAGTTCACCCTGCGAGGCA	0.557000													150	235					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9049457	9049457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9049457G>A	ENST00000397910.4	-	5	32377	c.32174C>T	c.(32173-32175)cCa>cTa	p.P10725L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10727	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						AGTCATAATTGGAATAGCTGA	0.443000													101	187					0	0	0.000781405	0	0
RHAG	6005	broad.mit.edu	37	6	49585872	49585872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:49585872C>T	ENST00000371175.4	-	3	427	c.401G>A	c.(400-402)gGa>gAa	p.G134E	RHAG_ENST00000229810.7_Missense_Mutation_p.G134E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	134					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GCTCGTTTTTCCCAGGACAGC	0.393000													42	107					0	0	0.000319135	0	0
OR2D2	120776	broad.mit.edu	37	11	6913093	6913093	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6913093C>T	ENST00000299459.2	-	1	737	c.639G>A	c.(637-639)ctG>ctA	p.L213L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATACCAGAATCAGAAAAACAG	0.473000													7	17					0	0	8.12818e-05	0	0
UNC13A	23025	broad.mit.edu	37	19	17737533	17737533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17737533C>T	ENST00000428389.2	-	35	4245	c.4246G>A	c.(4246-4248)Ggc>Agc	p.G1416S	UNC13A_ENST00000519716.2_Missense_Mutation_p.G1328S|UNC13A_ENST00000552293.1_Missense_Mutation_p.G1328S|UNC13A_ENST00000252773.7_Missense_Mutation_p.G1328S|UNC13A_ENST00000551649.1_Missense_Mutation_p.G1328S|UNC13A_ENST00000550896.1_Missense_Mutation_p.G1326S			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1328	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTGCCTGTGCCCTTAACCTGG	0.587000													56	92					0	0	0.000781405	0	0
CASC4	113201	broad.mit.edu	37	15	44705593	44705593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:44705593G>A	ENST00000299957.6	+	10	1599	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.D378N	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	0						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACATTTCAATGATGTCCTTTA	0.313000													130	215					0	0	0.000781405	0	0
BMPR1B	658	broad.mit.edu	37	4	96052390	96052390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:96052390G>A	ENST00000515059.1	+	10	1086	c.803G>A	c.(802-804)gGg>gAg	p.G268E	BMPR1B_ENST00000394931.1_Missense_Mutation_p.G268E|BMPR1B_ENST00000440890.2_Missense_Mutation_p.G298E|BMPR1B_ENST00000264568.4_Missense_Mutation_p.G268E	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	268	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATATCAAAGGGACAGGGTCC	0.368000													20	81					0	0	0.000295444	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033094	52033094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52033094G>A	ENST00000346477.3	-	4	916	c.848C>T	c.(847-849)tCc>tTc	p.S283F	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S310F|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S288F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S299F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S247F|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S299F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	299	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCCGGTATTGGAGATGGGGGT	0.627000													110	171					0	0	0.000781405	0	0
EPHB2	2048	broad.mit.edu	37	1	23236991	23236991	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:23236991C>T	ENST00000400191.3	+	14	2637	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	EPHB2_ENST00000374627.1_Silent_p.F868F|EPHB2_ENST00000374632.3_Silent_p.F874F|EPHB2_ENST00000374630.3_Silent_p.F873F	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	873	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGCCCAAGTTCGGCCAAATTG	0.622000													139	255					0	0	0.000781405	0	0
DCC	1630	broad.mit.edu	37	18	50450106	50450106	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:50450106C>T	ENST00000442544.2	+	4	1343	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	DCC_ENST00000412726.1_Silent_p.L91L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	243	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCTGTATTTTCTGCAAAGACC	0.378000													8	11					0	0	0.000442599	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520124	110520124	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:110520124G>A	ENST00000378402.5	+	69	11331	c.11227_splice	c.e69+1	p.G3743_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3743					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCTCATAAAGGTTTGTTGGA	0.353000										HNSCC(38;0.096)			44	138					0	0	0.000589545	0	0
OR5L2	26338	broad.mit.edu	37	11	55594973	55594973	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55594973C>T	ENST00000378397.1	+	1	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AAGCCATCTCCTTCCTAGGGT	0.458000										HNSCC(27;0.073)			12	73					0	0	0.000151284	0	0
HMCN1	83872	broad.mit.edu	37	1	185894182	185894182	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:185894182C>A	ENST00000271588.4	+	9	1518	c.1289C>A	c.(1288-1290)gCt>gAt	p.A430D	HMCN1_ENST00000367492.2_Missense_Mutation_p.A430D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	430					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCCTAGATGCTCCCAAAGTT	0.388000													20	69					8.00594e-06	0.00011388	0.000958276	1	0
ERN2	10595	broad.mit.edu	37	16	23713965	23713965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:23713965G>A	ENST00000256797.4	-	9	1225	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y	ERN2_ENST00000457008.2_Missense_Mutation_p.H305Y	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	305					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ACTCCTGTGTGGACCAGTGCT	0.498000													512	781					0	0	0.000781405	0	0
SP140	11262	broad.mit.edu	37	2	231106160	231106160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:231106160G>A	ENST00000392045.3	+	4	562	c.448G>A	c.(448-450)Gat>Aat	p.D150N	SP140_ENST00000420434.3_Missense_Mutation_p.D150N|SP140_ENST00000343805.6_Missense_Mutation_p.D150N|SP140_ENST00000417495.3_Missense_Mutation_p.D150N|SP140_ENST00000486687.2_Missense_Mutation_p.D150N|SP140_ENST00000350136.5_Missense_Mutation_p.D130N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	150					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAATGTAAACGATTTAGAAGA	0.378000													5	16					0	0	3.59834e-05	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667825	106667825	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:106667825G>A	ENST00000390606.2	-	0	168																											GAGTCTCAGGGACCCCCCAGG	0.592000													78	114					0	0	0.000781405	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414147	38414147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:38414147C>T	ENST00000377694.1	-	2	536	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	172	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GACAGGCCCACCTGCGCCCCG	0.577000													144	307					0	0	0.000781405	0	0
ILDR1	286676	broad.mit.edu	37	3	121707240	121707240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121707240G>A	ENST00000273691.3	-	7	1588	c.1483C>T	c.(1483-1485)Cat>Tat	p.H495Y	ILDR1_ENST00000393631.1_Missense_Mutation_p.H450Y|ILDR1_ENST00000344209.5_Missense_Mutation_p.H539Y|ILDR1_ENST00000462014.1_Missense_Mutation_p.H507Y	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	539						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTTCCACTATGAGAGCTGTCT	0.443000													101	145					0	0	0.000781405	0	0
MYBL1	4603	broad.mit.edu	37	8	67511375	67511375	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:67511375A>T	ENST00000522677.3	-	4	611	c.201T>A	c.(199-201)aaT>aaA	p.N67K	MYBL1_ENST00000517885.1_Missense_Mutation_p.N67K|MYBL1_ENST00000524176.2_Missense_Mutation_p.N67K	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	67	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AATCAGAGCGATTCTGAAAAA	0.368000													11	23					0	0	0.000673444	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42523567T>C	ENST00000360608.5	-	7	1169	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|NDUFA6-AS1_ENST00000416037.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	352							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTAGGGCATGTGAGCCTGGTC	0.592000													7	518					0	0	0.000151284	0	0
NWD1	284434	broad.mit.edu	37	19	16905281	16905281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:16905281C>T	ENST00000524140.2	+	15	3639	c.3221C>T	c.(3220-3222)tCc>tTc	p.S1074F	NWD1_ENST00000523826.1_Missense_Mutation_p.S868F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1074F|NWD1_ENST00000339803.6_Missense_Mutation_p.S939F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1074F|NWD1_ENST00000552788.1_Missense_Mutation_p.S1074F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1074							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGTTTCCTCCAAAGGGGAC	0.463000													26	47					0	0	0.000184323	0	0
ENC1	8507	broad.mit.edu	37	5	73931914	73931914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:73931914G>A	ENST00000302351.4	-	2	1527	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	ENC1_ENST00000510316.1_Missense_Mutation_p.R60W|ENC1_ENST00000537006.1_Missense_Mutation_p.R133W	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	133					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CATGCATCCCGGATGTCTTGA	0.532000													85	430					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152424923	152424923	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:152424923G>A	ENST00000397345.3	-	112	17845	c.17643C>T	c.(17641-17643)taC>taT	p.Y5881Y	NEB_ENST00000604864.1_Silent_p.Y5881Y|NEB_ENST00000603639.1_Silent_p.Y5881Y|NEB_ENST00000427231.2_Silent_p.Y5881Y|NEB_ENST00000409198.1_Silent_p.Y4180Y|NEB_ENST00000172853.10_Silent_p.Y4180Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5902					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTCTTTCCGGTATTTAATCT	0.443000													18	29					0	0	0.00074312	0	0
MORC1	27136	broad.mit.edu	37	3	108677820	108677820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:108677820C>T	ENST00000232603.5	-	28	3029	c.2947G>A	c.(2947-2949)Gaa>Aaa	p.E983K	MORC1_ENST00000483760.1_Missense_Mutation_p.E962K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	983					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACTTAATTTTCCGaagtcttt	0.259000													4	13					0	0	0.00024832	0	0
NARG2	79664	broad.mit.edu	37	15	60768358	60768358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:60768358G>A	ENST00000261520.4	-	3	284	c.50C>T	c.(49-51)tCc>tTc	p.S17F	NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000439632.1_5'UTR|NARG2_ENST00000561114.1_Missense_Mutation_p.S17F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	17						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATTTTTGGGGGAAATATCCCT	0.323000													92	118					0	0	0.000781405	0	0
ESR2	2100	broad.mit.edu	37	14	64724074	64724074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:64724074C>T	ENST00000557772.1	-	5	960	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ESR2_ENST00000353772.3_Missense_Mutation_p.E321K|ESR2_ENST00000341099.4_Missense_Mutation_p.E321K|ESR2_ENST00000542956.1_Missense_Mutation_p.E321K|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000555278.1_Missense_Mutation_p.E321K|ESR2_ENST00000553796.1_Missense_Mutation_p.E321K|ESR2_ENST00000358599.5_Missense_Mutation_p.E321K|ESR2_ENST00000357782.2_Missense_Mutation_p.E321K|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000554572.1_Missense_Mutation_p.E321K	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	321	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGGCTGAGCTCCACAAAGCCT	0.557000													165	337					0	0	0.000781405	0	0
FOXP4	116113	broad.mit.edu	37	6	41565546	41565546	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41565546C>A	ENST00000373060.1	+	16	2211	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	FOXP4_ENST00000373063.3_Missense_Mutation_p.L572I|FOXP4_ENST00000373057.3_Missense_Mutation_p.L583I|FOXP4_ENST00000307972.4_Missense_Mutation_p.L585I|FOXP4_ENST00000409208.1_Missense_Mutation_p.L573I	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	585					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCTTCCCCCTCCTCAACAG	0.682000											OREG0004068	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	63	110					8.20758e-20	1.17935e-18	0.000781405	1	0
SLC8B1	80024	broad.mit.edu	37	12	113759134	113759134	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113759134A>G	ENST00000552014.1	-	4	691	c.176T>C	c.(175-177)cTg>cCg	p.L59P	SLC24A6_ENST00000546737.1_Missense_Mutation_p.L59P|SLC24A6_ENST00000202831.3_Missense_Mutation_p.L59P|SLC24A6_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN		59					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGAGACATTCAGGCCACACAC	0.567000													5	878					0	0	0.000602214	0	0
CD86	942	broad.mit.edu	37	3	121828194	121828194	+	Silent	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121828194T>A	ENST00000330540.2	+	5	902	c.786T>A	c.(784-786)gtT>gtA	p.V262V	CD86_ENST00000264468.5_Silent_p.V49V|CD86_ENST00000393627.2_Silent_p.V256V|CD86_ENST00000493101.1_Silent_p.V150V|CD86_ENST00000469710.1_Silent_p.V180V	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	262					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTGTGATGGTTTTCTGTCTAA	0.448000													33	49					0	0	0.000409698	0	0
PLEC	5339	broad.mit.edu	37	8	144993387	144993387	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:144993387G>A	ENST00000322810.4	-	32	11182	c.11013C>T	c.(11011-11013)ccC>ccT	p.P3671P	PLEC_ENST00000354958.2_Silent_p.P3512P|PLEC_ENST00000356346.3_Silent_p.P3520P|PLEC_ENST00000345136.3_Silent_p.P3534P|PLEC_ENST00000398774.2_Silent_p.P3502P|PLEC_ENST00000527096.1_Silent_p.P3557P|PLEC_ENST00000357649.2_Silent_p.P3538P|PLEC_ENST00000436759.2_Silent_p.P3561P|PLEC_ENST00000354589.3_Silent_p.P3534P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3671	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						AGCCCGTCTCGGGGTCCTCCA	0.622000													379	816					0	0	0.000781405	0	0
GRK4	2868	broad.mit.edu	37	4	2986330	2986330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:2986330C>T	ENST00000398052.4	+	2	486	c.143C>T	c.(142-144)tCc>tTc	p.S48F	GRK4_ENST00000398051.4_Intron|GRK4_ENST00000345167.6_Intron|GRK4_ENST00000504933.1_Missense_Mutation_p.S48F	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	48	N-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTAGACATTCCATTGGTGAG	0.403000													27	128					0	0	0.000720815	0	0
DTX1	1840	broad.mit.edu	37	12	113496244	113496244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113496244C>T	ENST00000257600.3	+	1	750	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	83	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCACCAGTTTCGCCAGGACAC	0.612000													406	386					0	0	0.000781405	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83876084	83876084	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:83876084C>A	ENST00000299633.4	-	1	686	c.84_splice	c.e1+1	p.R28_splice	RP11-382A20.4_ENST00000565495.1_RNA	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		28	PWWP.				cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ggTACTCACCCGGGCCGGCCA	0.741000													29	39					1.45844e-13	2.08916e-12	0.000491102	1	0
FAM69C	125704	broad.mit.edu	37	18	72109314	72109314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:72109314G>A	ENST00000343998.6	-	3	922	c.914C>T	c.(913-915)cCt>cTt	p.P305L	FAM69C_ENST00000400291.2_Missense_Mutation_p.P6L	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	305						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						CCTCATTTTAGGTTCAAAAAA	0.453000													161	242					0	0	0.000781405	0	0
SHROOM3	57619	broad.mit.edu	37	4	77678072	77678072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:77678072C>T	ENST00000296043.6	+	8	6133	c.5180C>T	c.(5179-5181)tCa>tTa	p.S1727L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1727	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTCAGCTCTTCAGGATGTGAA	0.468000													134	105					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:13769624C>T	ENST00000265104.4	-	57	9810	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome				37	27					0	0	0.000814825	0	0
BPIFA1	51297	broad.mit.edu	37	20	31828158	31828158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:31828158C>T	ENST00000354297.4	+	5	619	c.548C>T	c.(547-549)tCc>tTc	p.S183F	BPIFA1_ENST00000375413.4_Missense_Mutation_p.S183F|BPIFA1_ENST00000375422.2_Missense_Mutation_p.S183F	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	183					innate immune response	extracellular region	lipid binding										TGCACCCATTCCCCTGGAAGC	0.537000													101	199					0	0	0.000781405	0	0
XDH	7498	broad.mit.edu	37	2	31591480	31591480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:31591480G>A	ENST00000379416.3	-	19	2075	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	676					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGTGTGTTCCGGGGTGTCAGC	0.478000													70	134					0	0	0.000781405	0	0
UNC13A	23025	broad.mit.edu	37	19	17785529	17785529	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17785529T>C	ENST00000428389.2	-	4	352	c.353A>G	c.(352-354)aAt>aGt	p.N118S	UNC13A_ENST00000519716.2_Missense_Mutation_p.N30S|UNC13A_ENST00000552293.1_Missense_Mutation_p.N30S|UNC13A_ENST00000252773.7_Missense_Mutation_p.N30S|UNC13A_ENST00000551649.1_Missense_Mutation_p.N30S|UNC13A_ENST00000550896.1_Missense_Mutation_p.N30S			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	30					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTCTTGACATTCTGCACTTT	0.592000													225	403					0	0	0.000781405	0	0
SUSD5	26032	broad.mit.edu	37	3	33249379	33249379	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:33249379G>A	ENST00000309558.3	-	3	747	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	110	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGCTCTCATGATTTGCTGTT	0.418000													109	198					0	0	0.000781405	0	0
ASMT	438	broad.mit.edu	37	X	1742137	1742137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:1742137G>A	ENST00000381241.3	+	2	374	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	ASMT_ENST00000381233.3_Missense_Mutation_p.G59R|ASMT_ENST00000381229.4_Missense_Mutation_p.G59R	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	59					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCGCCCATGGGACAGAGCT	0.642000													215	136					0	0	0.000781405	0	0
HTR1E	3354	broad.mit.edu	37	6	87725874	87725874	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:87725874C>T	ENST00000305344.4	+	2	1525	c.822C>T	c.(820-822)caC>caT	p.H274H	HTR1E_ENST00000369584.1_Silent_p.H274H	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	274					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ATCTAGATCACCCAGGAGAAC	0.517000													320	175					0	0	0.000781405	0	0
KIAA0195	9772	broad.mit.edu	37	17	73484022	73484022	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:73484022G>T	ENST00000314256.7	+	6	813	c.419G>T	c.(418-420)aGg>aTg	p.R140M	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R150M	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	140					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGCCCTCAGGGATGGCAGG	0.602000													8	582					1.58986e-06	2.26545e-05	0.000673444	1	0
CCDC74B	91409	broad.mit.edu	37	2	130898785	130898785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:130898785G>A	ENST00000392984.3	-	3	1678	c.935C>T	c.(934-936)cCc>cTc	p.P312L	CCDC74B_ENST00000409943.3_Missense_Mutation_p.P144L|CCDC74B_ENST00000409128.1_Missense_Mutation_p.P186L|CCDC74B_ENST00000310463.6_Missense_Mutation_p.P210L			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	210										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTGAAGTAGGGGCTCCTCTTC	0.602000													210	580					0	0	0.000781405	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18681895	18681895	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:18681895C>G	ENST00000380548.4	+	12	1766	c.1427C>G	c.(1426-1428)cCa>cGa	p.P476R	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.P476R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.P476R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	476	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCTGTAGCCCAAAAACAAAG	0.502000													4	231					0	0	0.00024832	0	0
AKAP8	10270	broad.mit.edu	37	19	15472548	15472548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15472548G>A	ENST00000269701.2	-	11	1448	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	463					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ACCTTTGAAAGGATCTGGTTT	0.478000													161	343					0	0	0.000781405	0	0
FAM177B	400823	broad.mit.edu	37	1	222919938	222919938	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:222919938C>T	ENST00000445590.2	+	3	317	c.51C>T	c.(49-51)tcC>tcT	p.S17S	FAM177B_ENST00000360827.2_Silent_p.S17S	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	17										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						GTGTACCTTCCAAAAAGACTA	0.413000													18	71					0	0	0.00074312	0	0
FSIP2	401024	broad.mit.edu	37	2	186670661	186670661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:186670661C>T	ENST00000343098.5	+	17	16895	c.16895C>T	c.(16894-16896)aCc>aTc	p.T5632I	FSIP2_ENST00000424728.1_Missense_Mutation_p.T5543I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACTTCAACTACCACTGTGAAA	0.294000													6	26					0	0	3.59834e-05	0	0
HTRA1	5654	broad.mit.edu	37	10	124273729	124273729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124273729G>A	ENST00000368984.3	+	9	1425	c.1297G>A	c.(1297-1299)Gtc>Atc	p.V433I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	433	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GGAAAACGACGTCATAATCAG	0.493000													317	554					0	0	0.000781405	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284813	52284813	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:52284813G>A	ENST00000301190.6	+	5	1310	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Intron|ANKRD33_ENST00000538991.1_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	237										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCCCGCCAGGGAGTCCCCAGA	0.652000													132	154					0	0	0.000781405	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537555	54537555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:54537555G>A	ENST00000474759.1	+	5	466	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D140N|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D140N|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D46N	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	140						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAATGAAAGGGACAAAGACGG	0.393000													22	54					0	0	0.000586117	0	0
GABRE	2564	broad.mit.edu	37	X	151123218	151123218	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:151123218G>T	ENST00000370328.3	-	9	1529	c.1476C>A	c.(1474-1476)ttC>ttA	p.F492L	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	492					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGAAGAAGAAAGTCACTG	0.547000													31	26					4.74835e-14	6.80786e-13	0.000339439	1	0
CAMKV	79012	broad.mit.edu	37	3	49897933	49897933	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:49897933G>A	ENST00000477224.1	-	9	1303	c.825C>T	c.(823-825)atC>atT	p.I275I	CAMKV_ENST00000463537.1_Silent_p.I275I|CAMKV_ENST00000467248.1_Silent_p.I200I|CAMKV_ENST00000296471.7_Silent_p.I247I|CAMKV_ENST00000466940.1_Silent_p.I232I|CAMKV_ENST00000488336.1_Silent_p.I275I			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	275	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTCTGCAGTGATCCGCTGGT	0.597000													54	93					0	0	0.000781405	0	0
NAV3	89795	broad.mit.edu	37	12	78562597	78562597	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:78562597C>T	ENST00000397909.2	+	24	5105	c.4932C>T	c.(4930-4932)gcC>gcT	p.A1644A	NAV3_ENST00000536525.2_Silent_p.A1644A|NAV3_ENST00000228327.6_Silent_p.A1644A|NAV3_ENST00000266692.7_Silent_p.A1467A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1644						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCTGCTGCCCAGGCGGCTA	0.403000										HNSCC(70;0.22)			8	15					0	0	0.000157383	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222354	142222354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:142222354G>A	ENST00000519067.1	-	7	2393	c.2090C>T	c.(2089-2091)aCc>aTc	p.T697I	SLC45A4_ENST00000517878.1_Missense_Mutation_p.T748I|SLC45A4_ENST00000433583.2_Missense_Mutation_p.T690I|SLC45A4_ENST00000024061.3_Missense_Mutation_p.T697I			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	748					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493)			CTTCAGCACGGTGGGCTTTTC	0.637000													136	163					0	0	0.000781405	0	0
IRGC	56269	broad.mit.edu	37	19	44223308	44223308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:44223308G>A	ENST00000244314.5	+	2	797	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	200						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCACTGTGCCGAGCGGCTGCG	0.701000													217	363					0	0	0.000781405	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945032	43945032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:43945032G>A	ENST00000389420.3	-	2	132	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P45S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	45						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCCGCTCGGGGATCACTACT	0.577000													174	195					0	0	0.000781405	0	0
TNXB	7148	broad.mit.edu	37	6	32047001	32047001	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:32047001G>T	ENST00000375244.3	-	11	4385	c.4184C>A	c.(4183-4185)cCc>cAc	p.P1395H	TNXB_ENST00000375247.2_Missense_Mutation_p.P1395H			P22105	TENX_HUMAN	tenascin XB	1482	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCCTGGGGGACGGTCCA	0.677000													26	3742					0.000602214	0.00835775	0.000602214	1	0
DCX	1641	broad.mit.edu	37	X	110644344	110644344	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:110644344C>T	ENST00000338081.3	-	3	993	c.822G>A	c.(820-822)aaG>aaA	p.K274K	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Silent_p.K193K|DCX_ENST00000371993.2_Silent_p.K193K|DCX_ENST00000356915.2_Silent_p.K193K|DCX_ENST00000356220.3_Silent_p.K193K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	274	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CACGCACAGCCTTCCGAGGCT	0.537000													21	4					0	0	0.000132079	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218924969	218924969	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:218924969C>T	ENST00000439871.1	-	0	1411					NR_002712.1																						TGCACTGACACTGAGACCAAG	0.542000													34	59					0	0	0.000409698	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23352044	23352044	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:23352044C>T	ENST00000258729.3	-	15	2033	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	559					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GCTGCTTTACCTGAGTCAGAA	0.448000													164	313					0	0	0.000781405	0	0
GALNT13	114805	broad.mit.edu	37	2	155265592	155265592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:155265592C>T	ENST00000392825.3	+	11	1960	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	GALNT13_ENST00000409237.1_Nonsense_Mutation_p.Q465*|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	465	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GGGAGGAAATCAGGTAAACTC	0.358000													16	47					0	0	0.000132079	0	0
C10orf62	414157	broad.mit.edu	37	10	99349982	99349982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:99349982C>T	ENST00000370640.3	+	1	533	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	110							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CCAAGAGATCCACCAGGAGTC	0.622000													138	293					0	0	0.000781405	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962430	235962430	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:235962430C>T	ENST00000409212.1	+	6	3369	c.2862C>T	c.(2860-2862)agC>agT	p.S954S	SH3BP4_ENST00000392011.2_Silent_p.S954S|SH3BP4_ENST00000344528.4_Silent_p.S954S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	954					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCGCCTTCAGCCCTGCGGACC	0.597000													221	388					0	0	0.000781405	0	0
EPHA10	284656	broad.mit.edu	37	1	38188738	38188738	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:38188738G>A	ENST00000373048.4	-	10	1934	c.1935C>T	c.(1933-1935)gtC>gtT	p.V645V	EPHA10_ENST00000427468.2_Silent_p.V645V|EPHA10_ENST00000540011.1_Silent_p.V140V|EPHA10_ENST00000330210.7_Silent_p.V140V|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	645	Protein kinase.		V -> I (in dbSNP:rs12405650).			extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTCCAGCGTGACGCTTTTCG	0.612000													173	313					0	0	0.000781405	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940089	68940089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:68940089C>T	ENST00000433211.1	-	7	1207	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CTNNA3_ENST00000545309.1_Missense_Mutation_p.E345K|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E345K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	345					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTCATGTACTCTGAAAGCAGA	0.483000													8	13					0	0	0.000442599	0	0
TTBK1	84630	broad.mit.edu	37	6	43250912	43250912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:43250912G>A	ENST00000259750.4	+	14	2517	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	812						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCTGGCAGACGATCAGAAGGA	0.667000													30	40					0	0	0.000147802	0	0
SEZ6L	23544	broad.mit.edu	37	22	26709835	26709835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:26709835G>A	ENST00000529632.2	+	9	2178	c.1982G>A	c.(1981-1983)gGa>gAa	p.G661E	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G661E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G661E|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G434E|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G434E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G661E|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G661E	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	661	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ATCCACGTGGGAGAAGAGAAA	0.488000													72	126					0	0	0.000781405	0	0
AUTS2	26053	broad.mit.edu	37	7	70250942	70250942	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:70250942G>A	ENST00000342771.4	+	17	2547	c.2224_splice	c.e17-1	p.E742_splice	AUTS2_ENST00000406775.2_Splice_Site_p.E718_splice	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	742										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGTTTGCAGAGCCTTTTAATC	0.552000													15	393					0	0	0.000308642	0	0
CDH6	1004	broad.mit.edu	37	5	31294268	31294268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:31294268C>T	ENST00000265071.2	+	3	693	c.428C>T	c.(427-429)tCt>tTt	p.S143F	CDH6_ENST00000514738.1_Missense_Mutation_p.S88F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGCCCGAGTCTGAATTCATC	0.478000													34	31					0	0	0.000692331	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170735	42170735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:42170735G>A	ENST00000320955.6	-	17	3502	c.3275C>T	c.(3274-3276)gCc>gTc	p.A1092V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1092					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCCGTTGGGCCACTTGTTC	0.637000													101	150					0	0	0.000781405	0	0
NDC1	55706	broad.mit.edu	37	1	54262616	54262616	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:54262616G>C	ENST00000371429.3	-	12	2022	c.1424C>G	c.(1423-1425)cCt>cGt	p.P475R	NDC1_ENST00000234725.8_Missense_Mutation_p.P360R|NDC1_ENST00000537333.1_Missense_Mutation_p.P140R|NDC1_ENST00000540001.1_Missense_Mutation_p.P475R	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TATTAGCTGAGGACTTTGCGG	0.423000													89	123					0	0	0.000781405	0	0
TANC2	26115	broad.mit.edu	37	17	61428720	61428720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61428720G>A	ENST00000424789.2	+	11	1699	c.1695G>A	c.(1693-1695)atG>atA	p.M565I	TANC2_ENST00000389520.4_Missense_Mutation_p.M565I	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	565							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGAGTAAAATGATCGGAAAGT	0.343000													48	73					0	0	0.000781405	0	0
CFHR3	10878	broad.mit.edu	37	1	196757491	196757491	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:196757491T>C	ENST00000471440.2	+	4	650	c.576T>C	c.(574-576)tgT>tgC	p.C192C	CFHR3_ENST00000367425.4_Silent_p.C192C|CFHR3_ENST00000391985.3_Intron					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CAATTACATGTTTGCAAAATG	0.328000													59	110					0	0	0.000781405	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8431098	8431098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8431098G>A	ENST00000301455.2	+	3	613	c.442G>A	c.(442-444)Gac>Aac	p.D148N	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.D148N|ANGPTL4_ENST00000541807.1_5'UTR	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	148					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGGCCTCCTGGACCACAAGCA	0.637000													236	476					0	0	0.000781405	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041490	86041490	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:86041490A>G	ENST00000414626.2	+	9	2331	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K501R			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	501					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGAAATTAAAAAACTGACT	0.313000													188	362					0	0	0.000781405	0	0
MEGF10	84466	broad.mit.edu	37	5	126784839	126784839	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:126784839A>C	ENST00000274473.6	+	23	3172	c.2905A>C	c.(2905-2907)Aag>Cag	p.K969Q	MEGF10_ENST00000503335.2_Missense_Mutation_p.K969Q|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	969	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GAACCCTGGGAAGAGAGGCCC	0.463000													21	96					0	0	0.00047179	0	0
LIFR	3977	broad.mit.edu	37	5	38482297	38482297	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:38482297C>T	ENST00000263409.4	-	20	2856	c.2694G>A	c.(2692-2694)ttG>ttA	p.L898L	LIFR_ENST00000453190.2_Silent_p.L898L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	898					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GATTCATTTCCAATGTTTTAA	0.363000			T	PLAG1	salivary adenoma								34	45					0	0	0.000409698	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400545	83400545	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:83400545G>A	ENST00000262752.2	-	6	449	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	RPS6KA6_ENST00000543399.1_Silent_p.L148L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	148	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATTAAGTACAGTTTCCCTTCA	0.289000													10	4					0	0	6.40141e-05	0	0
ZNF695	57116	broad.mit.edu	37	1	247150635	247150635	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:247150635G>A	ENST00000339986.7	-	4	1329	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	394					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCTGAATAAGGTATGAGAACC	0.393000													97	123					0	0	0.000781405	0	0
GZMA	3001	broad.mit.edu	37	5	54403645	54403645	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:54403645T>C	ENST00000274306.6	+	3	274	c.239T>C	c.(238-240)cTt>cCt	p.L80P		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	80	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CAGGTCATTCTTGGGGCTCAC	0.413000													11	23					0	0	0.00010058	0	0
CTBP2	1488	broad.mit.edu	37	10	126715000	126715000	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:126715000G>A	ENST00000309035.6	-	1	1459	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGCGCAAGGGGTGGGAGAGC	0.677000													118	249					0	0	0.000781405	0	0
MIB2	142678	broad.mit.edu	37	1	1563761	1563761	+	Silent	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1563761C>G	ENST00000357210.4	+	15	2340	c.2124C>G	c.(2122-2124)gcC>gcG	p.A708A	MIB2_ENST00000518681.1_Silent_p.A700A|MIB2_ENST00000505820.2_Silent_p.A765A|MIB2_ENST00000378708.1_Silent_p.A614A|MIB2_ENST00000360522.4_Silent_p.A673A|MIB2_ENST00000378710.3_Silent_p.A672A|MIB2_ENST00000355826.5_Silent_p.A751A|MIB2_ENST00000520777.1_Silent_p.A761A|MIB2_ENST00000504599.1_Silent_p.A664A|MIB2_ENST00000378712.1_Silent_p.A585A	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	708					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGAGGTGGCCCAGATCCTCA	0.706000													119	173					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61830110	61830110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61830110G>A	ENST00000280772.1	-	37	10720	c.10529C>T	c.(10528-10530)cCt>cTt	p.P3510L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3510					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGATCTGTCAGGATGTCTGCC	0.418000													15	15					0	0	0.000308642	0	0
OR4K1	79544	broad.mit.edu	37	14	20404475	20404475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20404475C>T	ENST00000285600.4	+	1	709	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTAATTATTTCCTACACCATC	0.433000													25	105					0	0	0.000375601	0	0
ZNF439	90594	broad.mit.edu	37	19	11978504	11978504	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11978504T>A	ENST00000304030.2	+	3	820	c.620T>A	c.(619-621)gTg>gAg	p.V207E	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.V71E	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CACATGGTAGTGCACAGTGGG	0.373000													141	194					0	0	0.000781405	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048542	90048542	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:90048542G>A	ENST00000330947.2	+	5	693	c.333G>A	c.(331-333)gaG>gaA	p.E111E	LRRC8B_ENST00000358200.4_Silent_p.E111E|LRRC8B_ENST00000439853.1_Silent_p.E111E	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	111						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCTGTTACGAGAAACAGCTCC	0.507000													32	73					0	0	0.000279167	0	0
FCER2	2208	broad.mit.edu	37	19	7763263	7763263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:7763263C>T	ENST00000346664.5	-	4	381	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	FCER2_ENST00000360067.4_Missense_Mutation_p.E56K|FCER2_ENST00000597921.1_Missense_Mutation_p.E57K	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	57					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GCCCTCTCTTCCAGCTGTTTT	0.632000													141	241					0	0	0.000781405	0	0
NCF2	4688	broad.mit.edu	37	1	183543646	183543646	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:183543646G>A	ENST00000367535.3	-	4	728	c.477C>T	c.(475-477)atC>atT	p.I159I	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Silent_p.I159I|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	159					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCGCCTTGTCGATTTTGGAAT	0.463000													445	341					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13753412	13753412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:13753412G>A	ENST00000265104.4	-	63	10906	c.10802C>T	c.(10801-10803)cCt>cTt	p.P3601L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3601	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTAACAAAGGGTAACGAGA	0.373000									Kartagener syndrome				11	29					0	0	6.40141e-05	0	0
RPL18	6141	broad.mit.edu	37	19	49119171	49119171	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49119171A>T	ENST00000549273.1	-	6	487	c.454T>A	c.(454-456)Ttc>Atc	p.F152I	RPL18_ENST00000550645.1_Intron|RPL18_ENST00000552588.1_Missense_Mutation_p.F123I|RPL18_ENST00000549920.1_Missense_Mutation_p.F152I			Q07020	RL18_HUMAN	ribosomal protein L18	152					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GCCTTGCCGAAATGCCGGTAC	0.667000													87	118					0	0	0.000781405	0	0
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:114355129G>A	ENST00000538033.2	+	0	2068																											GAGTCCATCCGCCAAGCTGGG	0.657000													8	190					0	0	0.000566183	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16058884	16058884	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16058884T>C	ENST00000375799.3	+	18	2892	c.2665T>C	c.(2665-2667)Tgc>Cgc	p.C889R	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.C869R|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	889					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCATACCCTGCTGCCTGGT	0.652000													4	71					0	0	0.00024832	0	0
GBP7	388646	broad.mit.edu	37	1	89618368	89618368	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:89618368C>T	ENST00000294671.2	-	4	549	c.411G>A	c.(409-411)caG>caA	p.Q137Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	137						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GCTCCAGGGCCTGGTGGTTGA	0.498000													16	19					0	0	0.000422831	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Nonsense_Mutation	SNP	G	G	A	rs121913254		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:115256530G>A	ENST00000369535.4	-	3	434	c.181C>T	c.(181-183)Caa>Taa	p.Q61*		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			336	607					0	0	0.000781405	0	0
FBXO2	26232	broad.mit.edu	37	1	11709882	11709882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:11709882C>T	ENST00000354287.4	-	4	912	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	191	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCTCCTCCCAGTAGCCC	0.642000													189	368					0	0	0.000781405	0	0
PRAM1	84106	broad.mit.edu	37	19	8563693	8563693	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8563693G>A	ENST00000423345.4	-	2	1519	c.999C>T	c.(997-999)tcC>tcT	p.S333S	PRAM1_ENST00000255612.3_Silent_p.S333S			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	381	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGGCTCTGAGGAGGTCCTGG	0.687000													50	58					0	0	0.000781405	0	0
RASAL3	64926	broad.mit.edu	37	19	15565513	15565513	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15565513A>G	ENST00000343625.6	-	12	1993	c.1913T>C	c.(1912-1914)cTc>cCc	p.L638P		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	638	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						AATCAGTGTGAGGGTGCGGGC	0.662000											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	193					0	0	3.59834e-05	0	0
IGHG4	3503	broad.mit.edu	37	14	106091118	106091118	+	RNA	SNP	G	G	T	rs112825195		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:106091118G>T	ENST00000390543.2	-	0	678																											GTGTACACCTGTGGCTCTCGG	0.647000													562	1851					3.02827e-109	4.4019e-108	0.000781405	1	0
COL4A2	1284	broad.mit.edu	37	13	111154033	111154033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:111154033G>A	ENST00000360467.5	+	41	4085	c.3779G>A	c.(3778-3780)gGg>gAg	p.G1260E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1260	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCCCACCTGGGAGCCCAGGA	0.517000													174	330					0	0	0.000781405	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270244	1270244	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:1270244C>T	ENST00000348261.5	+	35	6560	c.6312C>T	c.(6310-6312)atC>atT	p.I2104I	CACNA1H_ENST00000358590.4_Silent_p.I2098I|CACNA1H_ENST00000565831.1_Silent_p.I2098I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2104					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCAGCCACATCACCAGCTCCG	0.741000													106	169					0	0	0.000781405	0	0
CPSF6	11052	broad.mit.edu	37	12	69651633	69651633	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:69651633G>T	ENST00000435070.2	+	5	752	c.642G>T	c.(640-642)ggG>ggT	p.G214G	CPSF6_ENST00000266679.8_Silent_p.G214G|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	214	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTCCTGGTGGGGACAGATTTC	0.537000													193	189					1.56076e-113	2.27075e-112	0.000781405	1	0
MCCC1	56922	broad.mit.edu	37	3	182789134	182789134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:182789134G>A	ENST00000492597.1	-	5	878	c.176C>T	c.(175-177)tCc>tTc	p.S59F	MCCC1_ENST00000265594.4_Missense_Mutation_p.S168F|MCCC1_ENST00000539926.1_Missense_Mutation_p.S33F			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	168	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGCCATTATGGATTTGGATGT	0.418000													151	218					0	0	0.000781405	0	0
KMT2C	58508	broad.mit.edu	37	7	151859582	151859582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:151859582G>A	ENST00000355193.2	-	43	11298	c.11080C>T	c.(11080-11082)Cca>Tca	p.P3694S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P3694S					lysine (K)-specific methyltransferase 2C																		TGTTGATTTGGAGTTGCTTGT	0.463000													394	648					0	0	0.000781405	0	0
ACAN	176	broad.mit.edu	37	15	89403630	89403630	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:89403630C>T	ENST00000439576.2	+	13	7280	c.6906C>T	c.(6904-6906)tgC>tgT	p.C2302C	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Silent_p.C2302C|ACAN_ENST00000559004.1_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2302					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACGTCATATGCCTGTGCCCCC	0.632000													71	123					0	0	0.000781405	0	0
KCTD7	154881	broad.mit.edu	37	7	66103255	66103255	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:66103255C>T	ENST00000275532.3	+	3	514	c.330C>T	c.(328-330)ttC>ttT	p.F110F	KCTD7_ENST00000443322.1_Silent_p.F110F	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	110	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGCTGAATTTCCTGCGCTCAG	0.552000													258	412					0	0	0.000781405	0	0
UNC13C	440279	broad.mit.edu	37	15	54306845	54306845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:54306845C>T	ENST00000545554.1	+	1	1745	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S582L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S582L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	582					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGTCATCTTCGGACCGGGAG	0.448000													16	34					0	0	0.000308642	0	0
IGSF1	3547	broad.mit.edu	37	X	130408837	130408837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:130408837G>A	ENST00000370904.1	-	24	4370	c.3460C>T	c.(3460-3462)Ccc>Tcc	p.P1154S	IGSF1_ENST00000370910.1_Missense_Mutation_p.P1154S|IGSF1_ENST00000361420.3_Missense_Mutation_p.P1163S|IGSF1_ENST00000370903.3_Missense_Mutation_p.P1168S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1163					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GACAGAGAGGGTTTAGGGGGC	0.473000													198	67					0	0	0.000781405	0	0
VWA2	340706	broad.mit.edu	37	10	116037803	116037803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:116037803C>T	ENST00000603594.1	+	7	1018	c.697C>T	c.(697-699)Cca>Tca	p.P233S	VWA2_ENST00000392982.3_Missense_Mutation_p.P233S	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	233						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CAGCGCCACGCCAGGTAAGAT	0.647000													49	140					0	0	0.000781405	0	0
PCSK1	5122	broad.mit.edu	37	5	95735809	95735809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:95735809C>T	ENST00000311106.3	-	10	1515	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Nonsense_Mutation_p.W379*	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	426					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTCTTTTTCCATCCAGGGT	0.522000													56	69					0	0	0.000781405	0	0
STK16	8576	broad.mit.edu	37	2	220111520	220111520	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220111520C>G	ENST00000409638.3	+	3	400	c.228C>G	c.(226-228)aaC>aaG	p.N76K	STK16_ENST00000486813.1_Intron|STK16_ENST00000409260.1_Missense_Mutation_p.N121K|STK16_ENST00000409743.1_Missense_Mutation_p.N76K|STK16_ENST00000396738.2_Missense_Mutation_p.N76K|STK16_ENST00000409516.3_Intron	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	76	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCACCCCAACATCCTTCGCC	0.572000													140	247					0	0	0.000781405	0	0
ACE2	59272	broad.mit.edu	37	X	15582236	15582236	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:15582236G>A	ENST00000427411.1	-	18	2436	c.2220C>T	c.(2218-2220)tcC>tcT	p.S740S	ACE2_ENST00000252519.3_Silent_p.S740S|ACE2_ENST00000471548.1_5'UTR	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	740					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCAGCCATATGGAAACAGGGG	0.493000													46	20					0	0	0.000781405	0	0
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:135784313T>C	ENST00000367800.4	-	6	1097	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R|AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	294						adherens junction|cilium|microtubule basal body		p.Q294R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313000													4	100					0	0	0.000602214	0	0
C10orf62	414157	broad.mit.edu	37	10	99349981	99349981	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:99349981C>T	ENST00000370640.3	+	1	532	c.327C>T	c.(325-327)atC>atT	p.I109I	HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	109							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TCCAAGAGATCCACCAGGAGT	0.622000													140	297					0	0	0.000781405	0	0
CHD4	1108	broad.mit.edu	37	12	6700684	6700684	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:6700684G>A	ENST00000309577.6	-	22	3451	c.3288C>T	c.(3286-3288)atC>atT	p.I1096I	CHD4_ENST00000544484.1_Silent_p.I1093I|CHD4_ENST00000544040.1_Silent_p.I1089I|CHD4_ENST00000357008.2_Silent_p.I1096I			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1096	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCCACCATCGATGCGTTCGT	0.433000													193	167					0	0	0.000781405	0	0
CATSPERD	257062	broad.mit.edu	37	19	5757867	5757867	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:5757867A>G	ENST00000381624.3	+	14	1353	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.N89S	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	431						integral to membrane											ATGGTGAGCAACCCCCACTCC	0.607000													52	101					0	0	0.000781405	0	0
OR4B1	119765	broad.mit.edu	37	11	48238452	48238452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:48238452C>T	ENST00000309562.2	+	1	109	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTGTTTCTCCCCGTGTACCT	0.502000													89	111					0	0	0.000781405	0	0
MARCH2	51257	broad.mit.edu	37	19	8486870	8486870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8486870C>T	ENST00000602117.1	+	2	601	c.146C>T	c.(145-147)tCc>tTc	p.S49F	MARCH2_ENST00000381035.4_Missense_Mutation_p.S49F|MARCH2_ENST00000215555.2_Missense_Mutation_p.S49F|MARCH2_ENST00000393944.1_Missense_Mutation_p.S49F|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	49					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGCTCCTCTCCACCGTCATC	0.622000													203	369					0	0	0.000781405	0	0
ARID1A	8289	broad.mit.edu	37	1	27088784	27088784	+	Missense_Mutation	SNP	C	C	T	rs140683722		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:27088784C>T	ENST00000324856.7	+	7	2764	c.2393C>T	c.(2392-2394)cCc>cTc	p.P798L	ARID1A_ENST00000457599.2_Missense_Mutation_p.P798L|ARID1A_ENST00000374152.2_Missense_Mutation_p.P415L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	798					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTATGGTCCCCAGGGGGGT	0.562000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								67	178					0	0	0.000781405	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475719	75475719	+	RNA	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:75475719C>G	ENST00000459803.1	-	0	810					NR_024241.1													p.S257S(1)									TCCCGACCAGCGACACGATGG	0.572000													7	340					0	0	0.000566183	0	0
ZC3H4	23211	broad.mit.edu	37	19	47571034	47571034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:47571034G>A	ENST00000253048.5	-	15	2528	c.2491C>T	c.(2491-2493)Cga>Tga	p.R831*	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	831							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCGGGGGTCGGCTGGACGTC	0.632000													65	112					0	0	0.000781405	0	0
CHD7	55636	broad.mit.edu	37	8	61654794	61654794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:61654794C>T	ENST00000423902.2	+	2	1282	c.803C>T	c.(802-804)tCc>tTc	p.S268F	CHD7_ENST00000524602.1_Missense_Mutation_p.S268F|CHD7_ENST00000525508.1_Missense_Mutation_p.S268F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	268					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CATGGAGAATCCGTTGCCCAC	0.582000													544	714					0	0	0.000781405	0	0
FGFR2	2263	broad.mit.edu	37	10	123244982	123244982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:123244982G>A	ENST00000358487.5	-	16	2394	c.2122C>T	c.(2122-2124)Ccc>Tcc	p.P708S	FGFR2_ENST00000478859.1_Missense_Mutation_p.P480S|FGFR2_ENST00000357555.5_Missense_Mutation_p.P619S|FGFR2_ENST00000457416.2_Missense_Mutation_p.P709S|FGFR2_ENST00000369056.1_Missense_Mutation_p.P709S|FGFR2_ENST00000351936.6_Missense_Mutation_p.P706S|FGFR2_ENST00000369059.1_Missense_Mutation_p.P594S|FGFR2_ENST00000369061.4_Missense_Mutation_p.P596S|FGFR2_ENST00000360144.3_Missense_Mutation_p.P620S|FGFR2_ENST00000369060.4_Missense_Mutation_p.P592S|FGFR2_ENST00000346997.2_Missense_Mutation_p.P706S|FGFR2_ENST00000356226.4_Missense_Mutation_p.P591S	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	708	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.P708S(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TCCTCCACGGGAATCCCTGGG	0.522000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				65	144					0	0	0.000781405	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887131	62887131	+	Missense_Mutation	SNP	G	G	A	rs140624162		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:62887131G>A	ENST00000281156.4	-	2	456	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.L60F(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTTCTGAGAGCTTTATGTTT	0.328000													4	10					0	0	3.59834e-05	0	0
C20orf26	26074	broad.mit.edu	37	20	20278924	20278924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:20278924G>A	ENST00000245957.5	+	25	3392	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1106										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTTTCTAGGGAGCCCTTCCC	0.478000													110	204					0	0	0.000781405	0	0
CLCN1	1180	broad.mit.edu	37	7	143048977	143048977	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:143048977G>A	ENST00000343257.2	+	23	2973	c.2886G>A	c.(2884-2886)ctG>ctA	p.L962L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	962					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTCCAGGGCTGGAAGAGGAGC	0.642000													302	450					0	0	0.000781405	0	0
ARRB2	409	broad.mit.edu	37	17	4621956	4621956	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:4621956T>A	ENST00000269260.2	+	10	989	c.756T>A	c.(754-756)tgT>tgA	p.C252*	ARRB2_ENST00000572457.1_Nonsense_Mutation_p.C60*|ARRB2_ENST00000574954.1_Nonsense_Mutation_p.C60*|ARRB2_ENST00000412477.3_Nonsense_Mutation_p.C273*|ARRB2_ENST00000381488.6_Nonsense_Mutation_p.C237*|ARRB2_ENST00000346341.2_Nonsense_Mutation_p.C237*|ARRB2_ENST00000575877.1_Nonsense_Mutation_p.C252*|ARRB2_ENST00000571206.1_Nonsense_Mutation_p.C60*	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	252	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						AGTACAAGTGTCCTGTGGCTC	0.562000													465	198					0	0	0.000781405	0	0
NBEA	26960	broad.mit.edu	37	13	35770018	35770018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:35770018C>T	ENST00000540320.1	+	31	5479	c.4945C>T	c.(4945-4947)Cca>Tca	p.P1649S	NBEA_ENST00000310336.4_Missense_Mutation_p.P1649S|NBEA_ENST00000379939.2_Missense_Mutation_p.P1646S|NBEA_ENST00000400445.3_Missense_Mutation_p.P1649S			Q8NFP9	NBEA_HUMAN	neurobeachin	1649						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCTGCATTTCCAGACACCAT	0.328000													8	15					0	0	0.000673444	0	0
BCORL1	63035	broad.mit.edu	37	X	129190019	129190019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:129190019G>A	ENST00000540052.1	+	12	5088	c.5044G>A	c.(5044-5046)Ggc>Agc	p.G1682S	BCORL1_ENST00000303743.5_Missense_Mutation_p.G1756S|BCORL1_ENST00000359304.2_Missense_Mutation_p.G1552S|BCORL1_ENST00000218147.7_Missense_Mutation_p.G1682S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1682					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATCCCCCCCAGGCTCCTCTGA	0.622000													259	72					0	0	0.000781405	0	0
ZNF846	162993	broad.mit.edu	37	19	9868912	9868912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9868912G>A	ENST00000397902.2	-	6	1254	c.841C>T	c.(841-843)Cca>Tca	p.P281S	ZNF846_ENST00000588267.1_Missense_Mutation_p.P152S|ZNF846_ENST00000592859.1_Missense_Mutation_p.P152S|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CATTTATATGGTTTTTCTCCA	0.398000													114	209					0	0	0.000781405	0	0
STAT1	6772	broad.mit.edu	37	2	191844533	191844533	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:191844533G>A	ENST00000361099.3	-	20	2079	c.1692C>T	c.(1690-1692)ctC>ctT	p.L564L	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.L564L|STAT1_ENST00000392323.2_Silent_p.L566L|STAT1_ENST00000409465.1_Silent_p.L564L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	564					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GTTTTTTAATGAGTTCTAGGA	0.363000													39	46					0	0	0.000680045	0	0
CHAD	1101	broad.mit.edu	37	17	48545519	48545519	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:48545519C>A	ENST00000508540.1	-	1	808	c.656G>T	c.(655-657)cGg>cTg	p.R219L	ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R219L|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	219					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTCCACCACCCGTAGCTTGCT	0.617000													19	1186					0.000566183	0.00787113	0.000566183	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23816198	23816198	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:23816198T>C	ENST00000264867.2	-	8	1027	c.908A>G	c.(907-909)aAa>aGa	p.K303R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	303	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGGTTGGCTTTATGAGGAGG	0.413000													8	43					0	0	0.000442599	0	0
NELFB	25920	broad.mit.edu	37	9	140161789	140161789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:140161789C>T	ENST00000343053.4	+	10	1673	c.1336C>T	c.(1336-1338)Ccc>Tcc	p.P446S		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		CCGCCTGCTGCCCGGGCTGGG	0.677000													70	36					0	0	0.000781405	0	0
MUC17	140453	broad.mit.edu	37	7	100676654	100676654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:100676654C>T	ENST00000306151.4	+	3	2021	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	653	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)					TTCAACAACTCCTGTTGACTC	0.483000													378	693					0	0	0.000781405	0	0
RP1L1	94137	broad.mit.edu	37	8	10465600	10465600	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:10465600G>T	ENST00000382483.3	-	4	6231	c.6008C>A	c.(6007-6009)cCa>cAa	p.P2003Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2003					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCAGCCTCTGGGGCCTCTAC	0.607000													21	1946					8.12818e-05	0.00114517	8.12818e-05	1	0
GJA10	84694	broad.mit.edu	37	6	90605577	90605577	+	Missense_Mutation	SNP	G	G	A	rs140533217	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:90605577G>A	ENST00000369352.1	+	1	1390	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	464					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCCTCACTGGGAAAACAGCCC	0.502000													227	161					0	0	0.000781405	0	0
THAP9	79725	broad.mit.edu	37	4	83838849	83838849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:83838849C>T	ENST00000302236.5	+	5	1535	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	495							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TATTTGTTATCCTTAGACCTG	0.348000													161	126					0	0	0.000781405	0	0
KTN1	3895	broad.mit.edu	37	14	56108471	56108471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:56108471C>T	ENST00000416613.1	+	17	2237	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	KTN1_ENST00000395311.1_Missense_Mutation_p.S722F|KTN1_ENST00000395309.3_Missense_Mutation_p.S722F|KTN1_ENST00000413890.2_Missense_Mutation_p.S722F|KTN1_ENST00000438792.2_Missense_Mutation_p.S722F|KTN1_ENST00000395308.1_Missense_Mutation_p.S722F|KTN1_ENST00000395314.3_Missense_Mutation_p.S722F			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	722					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACTCTTGTTTCTGAACAGGTA	0.294000			T	RET	papillary thryoid								49	91					0	0	0.000781405	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413138	105413138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105413138C>T	ENST00000333244.5	-	7	8769	c.8650G>A	c.(8650-8652)Ggc>Agc	p.G2884S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2884						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAACGTGGCCCTCTGGGAGT	0.612000													652	1096					0	0	0.000781405	0	0
MEP1B	4225	broad.mit.edu	37	18	29797810	29797810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:29797810C>T	ENST00000269202.6	+	14	2020	c.1973C>T	c.(1972-1974)tCa>tTa	p.S658L	MEP1B_ENST00000581447.1_Missense_Mutation_p.S658L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	658					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATTGCTGTTTCATCTACTGTT	0.483000													51	92					0	0	0.000781405	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454708	84454708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:84454708G>A	ENST00000377084.2	-	1	1820	c.935C>T	c.(934-936)cCa>cTa	p.P312L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	312						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGTTGCCTGGGATCTTTGT	0.552000													103	183					0	0	0.000781405	0	0
CCM2	83605	broad.mit.edu	37	7	45104163	45104163	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:45104163C>T	ENST00000381112.3	+	4	1132	c.453C>T	c.(451-453)atC>atT	p.I151I	CCM2_ENST00000544363.1_Silent_p.I130I|CCM2_ENST00000474617.1_Silent_p.I124I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000475551.1_Silent_p.I124I|CCM2_ENST00000258781.6_Silent_p.I130I|CCM2_ENST00000541586.1_Silent_p.I72I	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	130	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGGAGGATATCATCCTCAGGG	0.607000													66	102					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82476488	82476488	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82476488T>A	ENST00000423517.2	-	11	14067	c.13730A>T	c.(13729-13731)cAg>cTg	p.Q4577L	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.Q4577L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4465	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCACTTTGCTGACTAATGAT	0.333000													7	9					0	0	8.12818e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13883105	13883105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:13883105C>T	ENST00000265104.4	-	20	3186	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1028	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTACATCTTCCAGGGCAGGG	0.532000									Kartagener syndrome				27	77					0	0	0.000878237	0	0
QPRT	23475	broad.mit.edu	37	16	29708641	29708641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:29708641C>T	ENST00000395384.4	+	4	964	c.803C>T	c.(802-804)tCc>tTc	p.S268F	QPRT_ENST00000562473.1_Missense_Mutation_p.S120F|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	268					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GACGTCATCTCCATGGGGATG	0.602000													209	320					0	0	0.000781405	0	0
UBASH3B	84959	broad.mit.edu	37	11	122647763	122647763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:122647763G>A	ENST00000284273.5	+	3	622	c.247G>A	c.(247-249)Gat>Aat	p.D83N		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	83						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCCTTCCTGGATGACCCCCT	0.547000													53	60					0	0	0.000781405	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328412	88328412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:88328412G>A	ENST00000325089.6	+	2	988	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	257	LRRCT 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTCCTATTCAGCCCTGGTGGG	0.493000													509	787					0	0	0.000781405	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205613	100205613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:100205613C>T	ENST00000223061.5	+	9	1517	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	413	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGTCCTTCCTCCAGAGAG	0.562000													295	556					0	0	0.000781405	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198498228	198498228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:198498228G>A	ENST00000367381.1	-	4	289	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ATP6V1G3_ENST00000489986.1_Nonsense_Mutation_p.R62*|ATP6V1G3_ENST00000367382.1_Nonsense_Mutation_p.R56*|ATP6V1G3_ENST00000281087.2_Nonsense_Mutation_p.R56*|ATP6V1G3_ENST00000309309.7_3'UTR			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	56					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TGTTTTAGTCGAAACTCTTTA	0.338000													15	37					0	0	0.000566183	0	0
SPERT	220082	broad.mit.edu	37	13	46276945	46276945	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:46276945C>T	ENST00000310521.1	+	2	191	c.111C>T	c.(109-111)acC>acT	p.T37T		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	37						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AAAGAGATACCAGATCTGAAA	0.443000													75	115					0	0	0.000781405	0	0
ADCY4	196883	broad.mit.edu	37	14	24799472	24799472	+	Silent	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24799472C>G	ENST00000310677.4	-	8	1073	c.960G>C	c.(958-960)ctG>ctC	p.L320L	ADCY4_ENST00000418030.2_Silent_p.L320L|ADCY4_ENST00000554068.2_Silent_p.L320L|ADCY4_ENST00000396747.3_Intron	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	320					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AACAGTCCCCCAGGATCTTGA	0.567000													5	369					0	0	8.12818e-05	0	0
TLL1	7092	broad.mit.edu	37	4	166960592	166960592	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:166960592T>A	ENST00000061240.2	+	10	1907	c.1261_splice	c.e10+1	p.L420_splice	TLL1_ENST00000507499.1_Splice_Site_p.L420_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	420	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CACCTCTCCTTGGTAAGATAT	0.368000													9	3					0	0	0.000274275	0	0
DUSP15	128853	broad.mit.edu	37	20	30450449	30450449	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:30450449G>A	ENST00000278979.3	-	6	427	c.351C>T	c.(349-351)gcC>gcT	p.A117A	DUSP15_ENST00000339738.5_Silent_p.A120A|DUSP15_ENST00000398083.1_Silent_p.A17A|DUSP15_ENST00000486996.1_Silent_p.A17A|DUSP15_ENST00000375966.4_Silent_p.A117A|DUSP15_ENST00000398084.2_Silent_p.A17A			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	117	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGGCCTGGTGGCCTTGATGG	0.602000													340	576					0	0	0.000781405	0	0
ASTN1	460	broad.mit.edu	37	1	176927615	176927615	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:176927615G>A	ENST00000367654.2	-	10	1639	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	ASTN1_ENST00000367657.3_Silent_p.F534F|ASTN1_ENST00000424564.2_Silent_p.F534F|ASTN1_ENST00000361833.2_Silent_p.F534F|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	542					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGTGTAGGTGAATCTGCAGG	0.552000													12	30					0	0	6.40141e-05	0	0
COL27A1	85301	broad.mit.edu	37	9	117070024	117070024	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:117070024G>T	ENST00000356083.3	+	59	5574	c.5183G>T	c.(5182-5184)gGa>gTa	p.G1728V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1728	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACTCATGGTGGACAGACGTGT	0.612000													141	71					8.19216e-75	1.18657e-73	0.000781405	1	0
NRXN1	9378	broad.mit.edu	37	2	50780084	50780084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:50780084C>T	ENST00000404971.1	-	10	2859	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	NRXN1_ENST00000406859.3_Missense_Mutation_p.G467E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G467E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G459E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G459E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G467E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	467	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCCACCACTCCATGGATCTT	0.408000													159	245					0	0	0.000781405	0	0
ARSH	347527	broad.mit.edu	37	X	2951408	2951408	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:2951408C>T	ENST00000381130.2	+	9	1671	c.1671C>T	c.(1669-1671)atC>atT	p.I557I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	557						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAGATGACATCCTTCCCATGG	0.512000													14	4					0	0	0.000422831	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186741	47186741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:47186741C>T	ENST00000447411.1	-	2	320	c.114G>A	c.(112-114)atG>atA	p.M38I	SLC38A4_ENST00000266579.4_Missense_Mutation_p.M38I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	38					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATACCTGCTCATTGCTGCCT	0.413000													16	31					0	0	0.000422831	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351362	41351362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41351362C>T	ENST00000301141.5	-	7	1018	c.998G>A	c.(997-999)aGa>aAa	p.R333K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	333					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GCCGATCACTCTGTCAATCTC	0.527000													230	424					0	0	0.000781405	0	0
EFTUD1	79631	broad.mit.edu	37	15	82456262	82456262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:82456262G>A	ENST00000268206.7	-	16	1982	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L	EFTUD1_ENST00000359445.3_Missense_Mutation_p.P554L	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	605					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TATAAATGGTGGGCAGGATGG	0.413000													28	50					0	0	0.000147802	0	0
CSMD1	64478	broad.mit.edu	37	8	3047537	3047537	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:3047537G>A	ENST00000520002.1	-	35	5853	c.5298C>T	c.(5296-5298)ttC>ttT	p.F1766F	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.F1766F|CSMD1_ENST00000400186.3_Silent_p.F1766F|CSMD1_ENST00000602557.1_Silent_p.F1766F|CSMD1_ENST00000542608.1_Silent_p.F1765F|CSMD1_ENST00000539096.1_Silent_p.F1765F|CSMD1_ENST00000537824.1_Silent_p.F1765F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1766	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTGCACTCGAATCGGACGA	0.597000													10	26					0	0	0.000673444	0	0
BAI3	577	broad.mit.edu	37	6	70034864	70034864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:70034864G>A	ENST00000370598.1	+	21	3736	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	BAI3_ENST00000238918.8_Missense_Mutation_p.G178E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	972					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTGTAACTGGAAAAATTAGG	0.413000													25	70					0	0	0.000184323	0	0
XPO6	23214	broad.mit.edu	37	16	28146597	28146597	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:28146597G>A	ENST00000304658.5	-	10	1883	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	XPO6_ENST00000565698.1_Silent_p.I447I	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	461					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ATCTGAACTGGATTCGATTCA	0.478000													124	130					0	0	0.000781405	0	0
ACAN	176	broad.mit.edu	37	15	89381944	89381944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:89381944G>A	ENST00000439576.2	+	3	495	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	ACAN_ENST00000352105.7_Missense_Mutation_p.V41I|ACAN_ENST00000558207.1_Missense_Mutation_p.V41I|ACAN_ENST00000561243.1_Missense_Mutation_p.V41I|ACAN_ENST00000559004.1_Missense_Mutation_p.V41I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	41					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCGCTGAGGGTCCTCCTGGG	0.607000													255	467					0	0	0.000781405	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62801204	62801204	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:62801204C>T	ENST00000582986.1	-	0	628					NR_024386.1																						CCTCTGAGATCCAGCTCTTGT	0.493000													62	117					0	0	0.000781405	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180678	142180678	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142180678C>T	ENST00000390368.2	-	0	246																											AGCCTCAGCCCCATGCCTGGG	0.498000													105	434					0	0	0.000781405	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623599	46623599	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:46623599C>T	ENST00000371347.5	+	2	378	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SLC25A27_ENST00000411689.2_Silent_p.L42L|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	42					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			CCCTGGATCTCACAAAAACTC	0.443000													167	308					0	0	0.000781405	0	0
ARID1A	8289	broad.mit.edu	37	1	27088785	27088785	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:27088785C>T	ENST00000324856.7	+	7	2765	c.2394C>T	c.(2392-2394)ccC>ccT	p.P798P	ARID1A_ENST00000457599.2_Silent_p.P798P|ARID1A_ENST00000374152.2_Silent_p.P415P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	798					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTATGGTCCCCAGGGGGGTC	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								68	177					0	0	0.000781405	0	0
ZNF562	54811	broad.mit.edu	37	19	9764094	9764094	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9764094T>C	ENST00000448622.1	-	6	974	c.812A>G	c.(811-813)aAt>aGt	p.N271S	ZNF562_ENST00000453792.2_Missense_Mutation_p.N202S|ZNF562_ENST00000453372.2_Missense_Mutation_p.N271S|ZNF562_ENST00000293648.4_Missense_Mutation_p.N199S|ZNF562_ENST00000541032.1_Missense_Mutation_p.N234S|ZNF562_ENST00000537617.1_Missense_Mutation_p.N155S|ZNF562_ENST00000590155.1_Missense_Mutation_p.N270S	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGAGAAAAATTAGTGAAGGA	0.373000													33	107					0	0	0.000339439	0	0
SLC1A1	6505	broad.mit.edu	37	9	4573943	4573943	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:4573943G>A	ENST00000262352.3	+	8	1040	c.804G>A	c.(802-804)ggG>ggA	p.G268G		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	268					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TGATTGCTGGGAAGATCATAG	0.463000													101	246					0	0	0.000781405	0	0
METTL2B	55798	broad.mit.edu	37	7	128141846	128141846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:128141846G>A	ENST00000480046.1	+	8	933	c.818G>A	c.(817-819)gGa>gAa	p.G273E	METTL2B_ENST00000262432.8_Missense_Mutation_p.G338E			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	338							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCACTGCTGGACTGGAAAAA	0.448000													121	204					0	0	0.000781405	0	0
REM1	28954	broad.mit.edu	37	20	30064251	30064251	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:30064251G>A	ENST00000201979.2	+	2	296	c.3G>A	c.(1-3)atG>atA	p.M1I	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	1					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACCAAAGATGACACTCAACA	0.577000													247	443					0	0	0.000781405	0	0
ASXL3	80816	broad.mit.edu	37	18	31320151	31320151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:31320151G>A	ENST00000269197.5	+	11	2783	c.2783G>A	c.(2782-2784)gGg>gAg	p.G928E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATAAGCAAGGGAGTACACAG	0.403000													67	106					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9085475	9085475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9085475G>A	ENST00000397910.4	-	1	6543	c.6340C>T	c.(6340-6342)Cag>Tag	p.Q2114*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2114	Ser-rich.|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						GCTGTATTCTGGGGACCATGG	0.488000													67	119					0	0	0.000781405	0	0
RASAL2	9462	broad.mit.edu	37	1	178427384	178427384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:178427384C>T	ENST00000448150.3	+	14	3742	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	RASAL2_ENST00000367649.3_Missense_Mutation_p.S986F|RASAL2_ENST00000462775.1_Missense_Mutation_p.S845F	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	845					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAGGACTTCTCCAGGCGGCAC	0.507000													161	111					0	0	0.000781405	0	0
CCNT1	904	broad.mit.edu	37	12	49087349	49087349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:49087349G>A	ENST00000261900.3	-	9	1870	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	550	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TTGCTTGTCTGGCTACTATGT	0.448000													241	279					0	0	0.000781405	0	0
MXRA5	25878	broad.mit.edu	37	X	3238901	3238901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:3238901G>A	ENST00000217939.6	-	5	4979	c.4825C>T	c.(4825-4827)Cct>Tct	p.P1609S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1609						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTTGGCAGGGACTCTGGTT	0.493000													424	132					0	0	0.000781405	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902519	61902519	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61902519G>A	ENST00000427159.2	-	8	1245	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	200					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGGGCCAGGAATCCTAAAA	0.423000													177	292					0	0	0.000781405	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847746	83847746	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:83847746C>T	ENST00000349129.2	+	21	4245	c.3985C>T	c.(3985-3987)Ctg>Ttg	p.L1329L	DOPEY1_ENST00000237163.5_Silent_p.L1310L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.L1320L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1329					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGTGATGGTCTGGATTTAGA	0.373000													12	11					0	0	6.40141e-05	0	0
NPR1	4881	broad.mit.edu	37	1	153653110	153653110	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:153653110C>T	ENST00000368680.3	+	2	1327	c.855C>T	c.(853-855)ggC>ggT	p.G285G		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	285					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTGGACAGGGCCCTGCTCCCC	0.607000													199	473					0	0	0.000781405	0	0
COL5A1	1289	broad.mit.edu	37	9	137716551	137716551	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:137716551G>C	ENST00000371817.3	+	62	5218	c.4804G>C	c.(4804-4806)Gtg>Ctg	p.V1602L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1602	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGAGAACTACGTGGACTACGC	0.622000													183	114					0	0	0.000781405	0	0
FBN1	2200	broad.mit.edu	37	15	48707889	48707889	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:48707889A>G	ENST00000316623.5	-	64	8350	c.7895T>C	c.(7894-7896)aTg>aCg	p.M2632T	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2632	EGF-like 46; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCGGGACACATGCACTTGTA	0.547000													52	85					0	0	0.000781405	0	0
BCAN	63827	broad.mit.edu	37	1	156617425	156617425	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156617425G>T	ENST00000329117.4	+	4	928	c.592G>T	c.(592-594)Ggg>Tgg	p.G198W	BCAN_ENST00000361588.5_Missense_Mutation_p.G198W|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	198	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCCTACCTTGGGGGCTATGA	0.632000													14	1908					8.12818e-05	0.00114517	8.12818e-05	1	0
CTNND2	1501	broad.mit.edu	37	5	10992670	10992670	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:10992670G>A	ENST00000304623.8	-	19	3393	c.3204C>T	c.(3202-3204)aaC>aaT	p.N1068N	CTNND2_ENST00000458100.2_Silent_p.N635N|CTNND2_ENST00000511377.1_Silent_p.N977N|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.N1010N|CTNND2_ENST00000503622.1_Silent_p.N731N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1068					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TACCTGAGCGGTTGTTGGGAG	0.597000													172	162					0	0	0.000781405	0	0
SBNO1	55206	broad.mit.edu	37	12	123805410	123805410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:123805410G>A	ENST00000420886.2	-	17	2326	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	SBNO1_ENST00000267176.4_Missense_Mutation_p.P775L|SBNO1_ENST00000602750.1_Missense_Mutation_p.P775L|SBNO1_ENST00000602398.1_Missense_Mutation_p.P776L	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	776							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AATTAACCAGGGATCTGAGTG	0.299000													12	48					0	0	0.000566183	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604068	54604068	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:54604068G>A	ENST00000474759.1	+	8	873	c.825G>A	c.(823-825)gcG>gcA	p.A275A	CACNA2D3_ENST00000415676.2_Silent_p.A275A|CACNA2D3_ENST00000288197.5_Silent_p.A275A|CACNA2D3_ENST00000490478.1_Silent_p.A181A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	275	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGACTATCGCGAAGCAAACAG	0.473000													45	103					0	0	0.000374591	0	0
NOD2	64127	broad.mit.edu	37	16	50733554	50733554	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:50733554C>T	ENST00000300589.2	+	2	334	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	77	CARD 1.				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)				CTTCCACCTCCTGGGCCAGCC	0.632000													200	355					0	0	0.000781405	0	0
CCDC108	255101	broad.mit.edu	37	2	219875354	219875354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219875354G>A	ENST00000341552.5	-	26	4305	c.4222C>T	c.(4222-4224)Cat>Tat	p.H1408Y	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.H1408Y|CCDC108_ENST00000441968.1_Missense_Mutation_p.H1408Y	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1408						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCATCATATGGGGGTTGTAG	0.597000													59	104					0	0	0.000781405	0	0
IL7R	3575	broad.mit.edu	37	5	35876323	35876323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:35876323G>A	ENST00000303115.3	+	8	1244	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	372					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGCCTGGCTGGGAATGTCAGT	0.552000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						7	51					0	0	0.000157383	0	0
TENM4	26011	broad.mit.edu	37	11	78383140	78383140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:78383140C>T	ENST00000278550.7	-	31	6193	c.5731G>A	c.(5731-5733)Ggc>Agc	p.G1911S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTGATGCGGCCCGCCTGGTCG	0.537000													57	150					0	0	0.000781405	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139334	142139334	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142139334C>T	ENST00000390374.3	-	0	335																											TGCGCTGGATCGTCAGAGTGG	0.542000													42	84					0	0	0.000781405	0	0
MYOCD	93649	broad.mit.edu	37	17	12661487	12661487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:12661487C>T	ENST00000425538.1	+	12	2488	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	MYOCD_ENST00000395988.1_Missense_Mutation_p.S667L|MYOCD_ENST00000343344.4_Missense_Mutation_p.S715L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	715					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCAGCAATTTCAGAGGTAACA	0.408000													32	22					0	0	0.000409698	0	0
GPR116	221395	broad.mit.edu	37	6	46847631	46847631	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:46847631C>T	ENST00000283296.7	-	9	1248	c.960G>A	c.(958-960)tcG>tcA	p.S320S	GPR116_ENST00000265417.7_Silent_p.S320S|GPR116_ENST00000362015.4_Silent_p.S320S|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	320	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CGGTGTAAATCGAGAATCTGC	0.463000													24	44					0	0	0.000586117	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724051	38724051	+	Missense_Mutation	SNP	C	C	T	rs112354022	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:38724051C>T	ENST00000342213.2	-	1	1523	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	393						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAGGAGGAGTCGAAAGCCTGA	0.498000													154	213					0	0	0.000781405	0	0
MTTP	4547	broad.mit.edu	37	4	100527936	100527936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:100527936G>A	ENST00000457717.1	+	12	1632	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	MTTP_ENST00000511045.1_Missense_Mutation_p.G486E|MTTP_ENST00000265517.5_Missense_Mutation_p.G459E|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	459	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTAATCCTGGGAGGACTTGAA	0.423000													14	43					0	0	0.000219431	0	0
GZMM	3004	broad.mit.edu	37	19	549174	549174	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:549174G>C	ENST00000264553.3	+	4	639	c.601G>C	c.(601-603)Gct>Cct	p.A201P		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308.1	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	201	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CAAGGACCAGGCTCCCTGCAA	0.711000													47	71					0	0	0.000781405	0	0
C20orf96	140680	broad.mit.edu	37	20	257909	257909	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:257909G>T	ENST00000360321.2	-	7	819	c.681C>A	c.(679-681)tcC>tcA	p.S227S	C20orf96_ENST00000382369.5_Silent_p.S192S|C20orf96_ENST00000400269.3_Silent_p.S169S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	227										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCATAAGAGTGGAGATCTGGA	0.557000													16	1709					2.17888e-05	0.000309121	0.000442599	1	0
PYGM	5837	broad.mit.edu	37	11	64519430	64519430	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64519430G>A	ENST00000164139.3	-	14	2132	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Silent_p.L490L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	578					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGCAGTTGAGGAGCTGTCGTT	0.512000													154	451					0	0	0.000781405	0	0
LMO7	4008	broad.mit.edu	37	13	76381957	76381957	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:76381957A>C	ENST00000357063.3	+	11	2954	c.1694A>C	c.(1693-1695)gAa>gCa	p.E565A	LMO7_ENST00000321797.8_Missense_Mutation_p.E280A|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.E565A|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.E280A			Q8WWI1	LMO7_HUMAN	LIM domain 7	565						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCGGATTTGGAAAAAGATGAT	0.443000													35	46					0	0	0.000692331	0	0
CABP4	57010	broad.mit.edu	37	11	67222957	67222957	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:67222957C>T	ENST00000325656.5	+	1	140	c.63C>T	c.(61-63)ccC>ccT	p.P21P	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	21					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTCAGAAGCCCCCTGCGGGGG	0.632000													67	198					0	0	0.000781405	0	0
LRRC43	254050	broad.mit.edu	37	12	122669159	122669159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:122669159G>A	ENST00000339777.4	+	2	272	c.244G>A	c.(244-246)Gag>Aag	p.E82K	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	82										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGAGACGGTGGAGGCCCTGCT	0.592000													69	208					0	0	0.000781405	0	0
BMPER	168667	broad.mit.edu	37	7	34118669	34118669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:34118669G>A	ENST00000297161.2	+	13	1653	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	BMPER_ENST00000426693.1_Missense_Mutation_p.E427K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	427	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGTGCTGGGCGAGAGCAGGGT	0.687000													369	511					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179478906	179478906	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179478906C>T	ENST00000589042.1	-	262	49442	c.49218G>A	c.(49216-49218)aaG>aaA	p.K16406K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.K7533K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.K13838K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.K7466K|TTN_ENST00000460472.2_Silent_p.K7341K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.K14765K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14765	Ig-like 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTGTATCCTTGACGGTGG	0.458000													5	8					0	0	0.000602214	0	0
F13B	2165	broad.mit.edu	37	1	197029555	197029555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:197029555C>T	ENST00000367412.1	-	5	789	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	249	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAAATCAGATCCACTTAGATA	0.308000													32	26					0	0	0.000692331	0	0
TEP1	7011	broad.mit.edu	37	14	20841843	20841843	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20841843G>T	ENST00000262715.5	-	45	6638	c.6598C>A	c.(6598-6600)Cgt>Agt	p.R2200S	TEP1_ENST00000545983.1_Missense_Mutation_p.R538S|TEP1_ENST00000556935.1_Missense_Mutation_p.R2092S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2200					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTACCTGCACGGGGCTCCATG	0.567000													7	189					8.12818e-05	0.00114517	8.12818e-05	1	0
GEMIN4	50628	broad.mit.edu	37	17	649222	649222	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:649222G>A	ENST00000576778.1	-	1	3369	c.2028C>T	c.(2026-2028)taC>taT	p.Y676Y	GEMIN4_ENST00000319004.5_Silent_p.Y687Y			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	687					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCTGGAGCCAGTATTCCTCTC	0.532000													143	66					0	0	0.000781405	0	0
NEU2	4759	broad.mit.edu	37	2	233897453	233897453	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:233897453C>T	ENST00000233840.3	+	1	72	c.72C>T	c.(70-72)gcC>gcT	p.A24A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	24							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GAATCCCTGCCCTGCTCTACC	0.627000													234	390					0	0	0.000781405	0	0
DNTT	1791	broad.mit.edu	37	10	98092300	98092300	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:98092300C>T	ENST00000419175.1	+	9	1476	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	DNTT_ENST00000371174.2_Silent_p.L436L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	436	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GGATTTAGTTCTGTGCCCCTA	0.527000													48	51					0	0	0.000781405	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556818	173556818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:173556818G>A	ENST00000367714.3	-	5	931	c.509C>T	c.(508-510)tCa>tTa	p.S170L	SLC9C2_ENST00000536496.1_Missense_Mutation_p.S68L|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	170					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGTTTTTAGTGAATTCACAGA	0.299000													24	55					0	0	0.000720815	0	0
BBS10	79738	broad.mit.edu	37	12	76740252	76740252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:76740252G>A	ENST00000393262.3	-	2	1596	c.1513C>T	c.(1513-1515)Ccg>Tcg	p.P505S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	505					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTGAATACGGAATATATGTT	0.343000									Bardet-Biedl syndrome				245	292					0	0	0.000781405	0	0
DGKI	9162	broad.mit.edu	37	7	137080407	137080407	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:137080407C>A	ENST00000453654.1	-	32	2564	c.2025G>T	c.(2023-2025)cgG>cgT	p.R675R	DGKI_ENST00000424189.2_Silent_p.R1019R|DGKI_ENST00000288490.5_Silent_p.R1006R|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Silent_p.R988R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1006					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGCCCGGTTCCGCTGGCAGG	0.557000													28	39					4.34311e-12	6.21862e-11	0.00058488	1	0
ARHGAP10	79658	broad.mit.edu	37	4	148867830	148867830	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:148867830A>C	ENST00000336498.3	+	15	1605	c.1366A>C	c.(1366-1368)Aca>Cca	p.T456P	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.T105P	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	456	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGACAATAACAAGTGCCTT	0.368000													5	43					0	0	0.000602214	0	0
COL22A1	169044	broad.mit.edu	37	8	139696699	139696699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:139696699G>A	ENST00000303045.6	-	39	3427	c.2981C>T	c.(2980-2982)tCa>tTa	p.S994L	COL22A1_ENST00000435777.1_Missense_Mutation_p.S994L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	994	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGTCCAGGTGATCCACGGAG	0.507000										HNSCC(7;0.00092)			78	176					0	0	0.000781405	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964483	94964483	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:94964483G>A	ENST00000341228.2	-	3	1047	c.252C>T	c.(250-252)tcC>tcT	p.S84S	SERPINA12_ENST00000556881.1_Silent_p.S84S	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	84					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGCACAGCATGGAGAAAGCTG	0.502000													129	239					0	0	0.000781405	0	0
PTPN5	84867	broad.mit.edu	37	11	18764004	18764004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:18764004G>A	ENST00000396170.1	-	7	1698	c.434C>T	c.(433-435)cCc>cTc	p.P145L	PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.P177L|PTPN5_ENST00000396167.2_Missense_Mutation_p.P145L|PTPN5_ENST00000396171.4_Missense_Mutation_p.P177L|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.P153L	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	177				S -> G (in Ref. 6; AAA87555).		integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTCCTCAGGGGGCAGTGGGGT	0.642000													70	185					0	0	0.000781405	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166799	180166799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:180166799C>T	ENST00000307832.2	-	1	300	c.260G>A	c.(259-261)gGg>gAg	p.G87E		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGTCCACCCCGCAAAGGTT	0.592000													32	194					0	0	0.000227799	0	0
PIPSL	266971	broad.mit.edu	37	10	95720216	95720216	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:95720216G>A	ENST00000480546.1	-	0	1081					NR_002319.2																						TCCCTGGATGGATTCCATGGC	0.532000													67	108					0	0	0.000781405	0	0
LMX1A	4009	broad.mit.edu	37	1	165173235	165173235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:165173235G>A	ENST00000342310.3	-	9	1413	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.S344F|LMX1A_ENST00000294816.2_Missense_Mutation_p.S344F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	344						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GTTACTGAGGGAGGTGTCGTC	0.517000													68	88					0	0	0.000781405	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842602	128842602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:128842602C>A	ENST00000310343.9	-	21	3756	c.3757G>T	c.(3757-3759)Gaa>Taa	p.E1253*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E904*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E904*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1253					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.E1253K(2)|p.E904K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTATTCTCTTCGGGGGACCCA	0.483000													8	937					0.000673444	0.00928291	0.000673444	1	0
RASAL1	8437	broad.mit.edu	37	12	113537799	113537799	+	Missense_Mutation	SNP	G	G	A	rs149283617		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113537799G>A	ENST00000546530.1	-	22	2641	c.2356C>T	c.(2356-2358)Cgt>Tgt	p.R786C	RASAL1_ENST00000548055.1_Missense_Mutation_p.R785C|RASAL1_ENST00000446861.3_Missense_Mutation_p.R756C|RASAL1_ENST00000261729.5_Missense_Mutation_p.R784C	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	784					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.R784C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCGTGGGCACGATCCAGGTCT	0.667000													106	355					0	0	0.000781405	0	0
RUNDC1	146923	broad.mit.edu	37	17	41132593	41132593	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:41132593G>A	ENST00000361677.1	+	0	12					NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1											breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTTCCGGGAAGATGGCGGCTG	0.687000													109	234					0	0	0.000781405	0	0
CYP4F3	4051	broad.mit.edu	37	19	15756645	15756645	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15756645C>T	ENST00000221307.7	+	3	363	c.315C>T	c.(313-315)acC>acT	p.T105T	CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000585846.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	105					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCCACCCCACCTACATCAAGC	0.592000													82	133					0	0	0.000781405	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881413	111881413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:111881413G>A	ENST00000393256.3	+	2	364	c.91G>A	c.(91-93)Ggg>Agg	p.G31R	BCL2L11_ENST00000337565.5_Missense_Mutation_p.G31R|BCL2L11_ENST00000308659.8_Missense_Mutation_p.G31R|BCL2L11_ENST00000393253.2_Missense_Mutation_p.G31R|BCL2L11_ENST00000405953.1_Missense_Mutation_p.G31R|BCL2L11_ENST00000357757.2_Missense_Mutation_p.G31R	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	31					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GCTCAGACCTGGGGCCCCTAC	0.582000													208	374					0	0	0.000781405	0	0
CLCC1	23155	broad.mit.edu	37	1	109477531	109477531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:109477531C>T	ENST00000369971.2	-	11	1546	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	CLCC1_ENST00000348264.2_Missense_Mutation_p.E288K|CLCC1_ENST00000369968.2_Missense_Mutation_p.E288K|CLCC1_ENST00000369969.2_Missense_Mutation_p.E352K|CLCC1_ENST00000369970.3_Missense_Mutation_p.E423K|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.E473K|CLCC1_ENST00000302500.4_Missense_Mutation_p.E352K|CLCC1_ENST00000415331.1_Missense_Mutation_p.E423K|CLCC1_ENST00000482889.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	473						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCACCTGTCTCCTTGGGCTTT	0.418000													670	1008					0	0	0.000781405	0	0
ADPGK	83440	broad.mit.edu	37	15	73044794	73044794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:73044794G>A	ENST00000311669.8	-	7	1472	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	ADPGK_ENST00000456471.2_Missense_Mutation_p.S186F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	461	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GAAGTGGAAGGATATTCCCTC	0.488000													85	165					0	0	0.000781405	0	0
NBEA	26960	broad.mit.edu	37	13	36241521	36241521	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:36241521C>T	ENST00000540320.1	+	56	8946	c.8412C>T	c.(8410-8412)tgC>tgT	p.C2804C	NBEA_ENST00000379922.3_Silent_p.C382C|NBEA_ENST00000537702.1_Silent_p.C597C|NBEA_ENST00000310336.4_Silent_p.C2804C|NBEA_ENST00000379939.2_Silent_p.C2801C|NBEA_ENST00000400445.3_Silent_p.C2804C			Q8NFP9	NBEA_HUMAN	neurobeachin	2804						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGGCCCTTGCCTTGTCCACA	0.532000													104	192					0	0	0.000781405	0	0
EIF2D	1939	broad.mit.edu	37	1	206767007	206767007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:206767007G>A	ENST00000271764.2	-	14	1853	c.1645C>T	c.(1645-1647)Cag>Tag	p.Q549*	EIF2D_ENST00000472709.2_Intron|EIF2D_ENST00000367114.3_Nonsense_Mutation_p.Q425*	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	549	SUI1.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGTTTCCCTGGATCTGCACC	0.592000													64	206					0	0	0.000781405	0	0
INO80D	54891	broad.mit.edu	37	2	206869173	206869173	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:206869173G>A	ENST00000403263.1	-	11	3407	c.3003C>T	c.(3001-3003)gcC>gcT	p.A1001A		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGTAGGAGGGGCTATAGAGC	0.542000													6	17					0	0	3.59834e-05	0	0
DUSP5	1847	broad.mit.edu	37	10	112266753	112266753	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:112266753T>G	ENST00000369583.3	+	3	873	c.589T>G	c.(589-591)Tgc>Ggc	p.C197G	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	197	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TGCATCCAAGTGCGAGTTCCT	0.547000													459	906					0	0	0.000781405	0	0
CCDC108	255101	broad.mit.edu	37	2	219875355	219875355	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219875355G>A	ENST00000341552.5	-	26	4304	c.4221C>T	c.(4219-4221)ccC>ccT	p.P1407P	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.P1407P|CCDC108_ENST00000441968.1_Silent_p.P1407P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1407						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCATATGGGGGTTGTAGC	0.597000													59	102					0	0	0.000781405	0	0
LAMB3	3914	broad.mit.edu	37	1	209803111	209803111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:209803111G>A	ENST00000391911.1	-	9	1492	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L	LAMB3_ENST00000356082.4_Missense_Mutation_p.P368L|LAMB3_ENST00000367030.3_Missense_Mutation_p.P368L	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	368	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGAAGCTCCCGGGCGCCGGTT	0.567000													163	451					0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34033255	34033255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34033255C>T	ENST00000373381.4	-	53	8494	c.8318G>A	c.(8317-8319)gGc>gAc	p.G2773D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2750	Sushi 19.					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)				CACAGACATGCCGATCAGGCG	0.562000													37	58					0	0	0.000191422	0	0
TRPC4	7223	broad.mit.edu	37	13	38211150	38211150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:38211150G>A	ENST00000379705.3	-	11	3681	c.2824C>T	c.(2824-2826)Cct>Tct	p.P942S	TRPC4_ENST00000338947.5_Missense_Mutation_p.P769S|TRPC4_ENST00000355779.2_Missense_Mutation_p.P801S|TRPC4_ENST00000447043.1_Missense_Mutation_p.P801S|TRPC4_ENST00000358477.2_Missense_Mutation_p.P858S|TRPC4_ENST00000379673.2_Missense_Mutation_p.P793S|TRPC4_ENST00000379679.1_Missense_Mutation_p.P769S|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.P947S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	942	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGTATTATAGGAACCGTGTCC	0.458000													22	62					0	0	0.000375601	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5345040G>A	ENST00000328813.2	-	1	542	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000													4	24					0	0	0.00024832	0	0
OR1M1	125963	broad.mit.edu	37	19	9204400	9204400	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9204400C>T	ENST00000429566.3	+	1	546	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCACTCACATCCTCCTGATGG	0.597000													113	187					0	0	0.000781405	0	0
CPEB2	132864	broad.mit.edu	37	4	15067856	15067856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:15067856C>T	ENST00000538197.1	+	12	2957	c.2957C>T	c.(2956-2958)cCc>cTc	p.P986L	CPEB2_ENST00000442003.2_Missense_Mutation_p.P959L|CPEB2_ENST00000507071.1_Missense_Mutation_p.P541L|CPEB2_ENST00000382395.3_Missense_Mutation_p.P519L|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Missense_Mutation_p.P511L|CPEB2_ENST00000259997.5_Missense_Mutation_p.P549L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000541112.1_Missense_Mutation_p.P978L|CPEB2_ENST00000382401.3_Missense_Mutation_p.P514L	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	541					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AAATTTGCTCCCTTTTTTTGT	0.443000													15	90					0	0	0.00074312	0	0
DPYS	1807	broad.mit.edu	37	8	105440328	105440328	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:105440328C>T	ENST00000351513.2	-	6	1104	c.972G>A	c.(970-972)ggG>ggA	p.G324G		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	324					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGTTATCAGTCCCTGTTGTGG	0.433000													24	53					0	0	0.000586117	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478185	14478185	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:14478185C>T	ENST00000581457.1	-	0	1723					NR_024076.1																						TAGACCCATCCTTGCTCTGTG	0.453000													148	202					0	0	0.000781405	0	0
NDST3	9348	broad.mit.edu	37	4	119158332	119158332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:119158332C>T	ENST00000296499.5	+	10	2478	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	692	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAGATTATCACCATTCTCATT	0.453000													74	90					0	0	0.000781405	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718181	2718181	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:2718181T>C	ENST00000320876.6	+	18	2624	c.2286T>C	c.(2284-2286)atT>atC	p.I762I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.I762I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	762					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGAGATTATTTCGCATATTA	0.303000													57	66					0	0	0.000781405	0	0
LCE5A	254910	broad.mit.edu	37	1	152484087	152484087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152484087C>T	ENST00000334269.2	+	2	253	c.77C>T	c.(76-78)cCt>cTt	p.P26L		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	26	Cys-rich.				keratinization			p.P26H(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			aagtgtactcctaagtgtcct	0.577000													291	216					0	0	0.000781405	0	0
COL14A1	7373	broad.mit.edu	37	8	121293266	121293266	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:121293266C>T	ENST00000297848.3	+	31	4062	c.3792C>T	c.(3790-3792)ctC>ctT	p.L1264L	COL14A1_ENST00000247781.3_Silent_p.L1169L|COL14A1_ENST00000309791.4_Silent_p.L1264L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1264	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GTTACCAACTCCATAAAGATG	0.378000													10	20					0	0	0.00010058	0	0
DYRK4	8798	broad.mit.edu	37	12	4702284	4702284	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:4702284A>C	ENST00000540757.2	+	4	395	c.235A>C	c.(235-237)Aaa>Caa	p.K79Q	DYRK4_ENST00000543431.1_Missense_Mutation_p.K79Q|DYRK4_ENST00000010132.5_Missense_Mutation_p.K79Q	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	79						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGCTCCTGAGAAATTTAGCAA	0.532000													50	56					0	0	0.000781405	0	0
SLC6A8	6535	broad.mit.edu	37	X	152956947	152956947	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:152956947C>T	ENST00000253122.5	+	3	1059	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	SLC6A8_ENST00000430077.2_Silent_p.L80L	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	195					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CAATGCCAGCCTGGCCAACCT	0.632000													706	200					0	0	0.000781405	0	0
STEAP3	55240	broad.mit.edu	37	2	120005746	120005746	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:120005746C>T	ENST00000354888.5	+	4	1488	c.984C>T	c.(982-984)gcC>gcT	p.A328A	STEAP3_ENST00000393107.2_Silent_p.A328A|STEAP3_ENST00000393106.2_Silent_p.A328A|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Silent_p.A328A|STEAP3_ENST00000409811.1_Silent_p.A328A|STEAP3_ENST00000393110.2_Silent_p.A338A|STEAP3_ENST00000425223.2_Silent_p.A328A|STEAP3_ENST00000450943.2_Silent_p.A328A	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	328	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGCGCCGCGCCCACCGCTACG	0.652000													130	255					0	0	0.000781405	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632407	122632407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122632407C>T	ENST00000195173.4	-	16	2557	c.2254G>A	c.(2254-2256)Ggc>Agc	p.G752S	SEMA5B_ENST00000451055.2_Missense_Mutation_p.G806S|SEMA5B_ENST00000357599.3_Missense_Mutation_p.G752S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	752	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGAGTTGCCGTTCTCGCAG	0.716000													111	186					0	0	0.000781405	0	0
CNTN5	53942	broad.mit.edu	37	11	100179193	100179193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:100179193G>A	ENST00000524871.1	+	21	3013	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	CNTN5_ENST00000527185.1_Missense_Mutation_p.G908E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G908E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G908E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G834E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	908	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACAGGGATTTGAGGTA	0.423000													13	41					0	0	0.000422831	0	0
RBM42	79171	broad.mit.edu	37	19	36125256	36125256	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:36125256C>T	ENST00000262633.4	+	8	1221	c.1116C>T	c.(1114-1116)agC>agT	p.S372S	RBM42_ENST00000360475.4_Silent_p.S343S|RBM42_ENST00000589871.1_Silent_p.S350S|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Silent_p.S318S|RBM42_ENST00000589559.1_Silent_p.S343S|RBM42_ENST00000588161.1_Silent_p.S342S	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	372	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGACCCCAGCCTGCTGGAGT	0.622000													179	322					0	0	0.000781405	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205614	100205614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:100205614C>T	ENST00000223061.5	+	9	1518	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	413	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCGTCCTTCCTCCAGAGAGC	0.567000													295	553					0	0	0.000781405	0	0
LRP1	4035	broad.mit.edu	37	12	57600328	57600328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:57600328C>T	ENST00000243077.3	+	76	12129	c.11663C>T	c.(11662-11664)tCg>tTg	p.S3888L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3888					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCCCCATTCGGCTTACGAG	0.587000													199	190					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61834193	61834193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61834193G>A	ENST00000280772.1	-	37	6637	c.6446C>T	c.(6445-6447)cCt>cTt	p.P2149L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2149					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTGGTTTAGGACCAGTGCT	0.453000													22	51					0	0	0.000720815	0	0
OR2L13	284521	broad.mit.edu	37	1	248262730	248262730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:248262730C>T	ENST00000366478.2	+	3	390	c.53C>T	c.(52-54)cCc>cTc	p.P18L	OR2L13_ENST00000358120.2_Missense_Mutation_p.P18L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGTCTGCTTCCCCCAAATCAA	0.403000													48	206					0	0	0.000781405	0	0
SNHG14	104472715	broad.mit.edu	37	15	25332813	25332813	+	RNA	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:25332813C>G	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNORD116-21_ENST00000384529.1_lincRNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GTGTGTGGATCGATGATGACT	0.433000													52	97					0	0	0.000781405	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338755	5338755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:5338755G>A	ENST00000396872.2	+	8	1180	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	SLC29A4_ENST00000406453.3_Missense_Mutation_p.R326K|SLC29A4_ENST00000297195.4_Missense_Mutation_p.R340K	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	340					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCACCTTCAGAGGTGAGTGC	0.721000													88	131					0	0	0.000781405	0	0
PYHIN1	149628	broad.mit.edu	37	1	158946490	158946490	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158946490G>A	ENST00000368140.1	+	9	1729		c.e9-1		PYHIN1_ENST00000368138.3_Splice_Site|PYHIN1_ENST00000392252.3_Splice_Site|PYHIN1_ENST00000392254.2_Splice_Site	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1						cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TATGCTTCAAGGTCACCAAGG	0.413000													20	24					0	0	0.00047179	0	0
PDE7B	27115	broad.mit.edu	37	6	136502374	136502374	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:136502374A>T	ENST00000308191.6	+	11	1261	c.958A>T	c.(958-960)Aag>Tag	p.K320*	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	320	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GATCGCCTTGAAGTGTGCTGA	0.468000													186	118					0	0	0.000781405	0	0
SESTD1	91404	broad.mit.edu	37	2	180016105	180016105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:180016105G>A	ENST00000428443.3	-	6	699	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	128	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTGTTGGCGGACACTAAAAT	0.343000													12	20					0	0	0.000219431	0	0
DPP10	57628	broad.mit.edu	37	2	116497419	116497419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:116497419C>T	ENST00000410059.1	+	9	1282	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	DPP10_ENST00000310323.8_Missense_Mutation_p.R261W|DPP10_ENST00000409163.1_Missense_Mutation_p.R218W|DPP10_ENST00000393147.2_Missense_Mutation_p.R272W	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	268					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTTATCCCTCGGTTTACTGG	0.458000													35	38					0	0	0.000814825	0	0
GOLM1	51280	broad.mit.edu	37	9	88667464	88667464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:88667464G>A	ENST00000388712.3	-	4	520	c.352C>T	c.(352-354)Cga>Tga	p.R118*	GOLM1_ENST00000388711.3_Nonsense_Mutation_p.R118*|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	118						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TGCAGCACTCGGATGAGCCTC	0.547000													478	268					0	0	0.000781405	0	0
PER3	8863	broad.mit.edu	37	1	7870507	7870507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:7870507C>T	ENST00000377532.3	+	12	1605	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	PER3_ENST00000361923.2_Nonsense_Mutation_p.Q460*|RP3-467L1.4_ENST00000451646.1_RNA			P56645	PER3_HUMAN	period circadian clock 3	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACCTTGCAGCAGGTCTA	0.363000													111	204					0	0	0.000781405	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900186	4900186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:4900186G>A	ENST00000404991.1	-	1	1439	c.1253C>T	c.(1252-1254)cCa>cTa	p.P418L	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	418					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAATGACTGTGGATTCACATG	0.403000													906	1446					0	0	0.000781405	0	0
RYR3	6263	broad.mit.edu	37	15	33895497	33895497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:33895497G>A	ENST00000389232.4	+	18	2166	c.2096G>A	c.(2095-2097)gGa>gAa	p.G699E	RYR3_ENST00000415757.3_Missense_Mutation_p.G699E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	699	B30.2/SPRY 1.				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)		GGTGGAGAAGGATGGGGAGGC	0.547000													72	126					0	0	0.000781405	0	0
ASXL1	171023	broad.mit.edu	37	20	31024358	31024358	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:31024358C>T	ENST00000375687.4	+	13	4267	c.3843C>T	c.(3841-3843)tcC>tcT	p.S1281S	ASXL1_ENST00000306058.5_Silent_p.S1276S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1281					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATGTGATCTCCTTTGGTCCAG	0.507000			"""F, N, Mis"""		"""MDS, CMML"""								309	487					0	0	0.000781405	0	0
LILRB5	10990	broad.mit.edu	37	19	54759954	54759954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54759954G>A	ENST00000450632.1	-	4	657	c.580C>T	c.(580-582)Cct>Tct	p.P194S	LILRB5_ENST00000449561.2_Missense_Mutation_p.P203S|LILRB5_ENST00000316219.5_Missense_Mutation_p.P203S|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	203	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACCTGAGGGTTTTTCCTG	0.532000													250	471					0	0	0.000781405	0	0
GPR89B	51463	broad.mit.edu	37	1	147400670	147400670	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:147400670C>A	ENST00000314163.7	+	1	165	c.21C>A	c.(19-21)tcC>tcA	p.S7S		NM_016334.3	NP_057418.1	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	7					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			large_intestine(1)	1	all_hematologic(923;0.0276)					TGATCGACTCCAGCATCATGA	0.662000													12	852					0.000219431	0.00307819	0.000219431	1	0
SRFBP1	153443	broad.mit.edu	37	5	121356448	121356448	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:121356448T>A	ENST00000339397.4	+	6	1090	c.1018T>A	c.(1018-1020)Tta>Ata	p.L340I	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AACCAGAAAGTTAGAATCAGT	0.313000													4	11					0	0	0.00024832	0	0
CHODL	140578	broad.mit.edu	37	21	19628897	19628897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:19628897C>T	ENST00000299295.2	+	2	542	c.151C>T	c.(151-153)Cga>Tga	p.R51*	CHODL_ENST00000338326.3_Nonsense_Mutation_p.R10*|CHODL_ENST00000400135.1_Nonsense_Mutation_p.R10*|CHODL_ENST00000400128.1_Nonsense_Mutation_p.R10*|CHODL_ENST00000543733.1_Nonsense_Mutation_p.R32*|CHODL_ENST00000400127.1_Nonsense_Mutation_p.R10*|CHODL_ENST00000400131.1_Nonsense_Mutation_p.R10*	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	51	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACTGTCCAGCCGAGTGAGCTT	0.463000													51	28					0	0	0.000781405	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68939712	68939712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:68939712G>A	ENST00000356291.2	-	4	357	c.298C>T	c.(298-300)Cga>Tga	p.R100*	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	100	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAAGAATGTCGAAATATCCTA	0.244000													19	9					0	0	0.000375601	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			331	605					0	0	0.000781405	0	0
OR5L1	219437	broad.mit.edu	37	11	55579833	55579833	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55579833G>A	ENST00000333973.2	+	1	980	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V297V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATAAAGATGTGAAAGAAGCTC	0.458000													42	50					0	0	0.000680045	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123448136	123448136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:123448136C>T	ENST00000529750.1	+	2	412	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R29C|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R29C	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	29						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAAGCGGTCTCGCTCGCCAAC	0.657000											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	44					0	0	0.000409698	0	0
DBN1	1627	broad.mit.edu	37	5	176885602	176885602	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:176885602G>A	ENST00000292385.5	-	13	1848	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P	DBN1_ENST00000393563.4_Silent_p.P143P|DBN1_ENST00000512501.1_Silent_p.P143P|DBN1_ENST00000309007.5_Silent_p.P411P|DBN1_ENST00000393565.1_Silent_p.P457P	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	411					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCCCCCGGGGAGGCGCCT	0.692000													141	70					0	0	0.000781405	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798472	69798472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:69798472C>T	ENST00000251566.4	-	3	900	c.870G>A	c.(868-870)atG>atA	p.M290I	UGT2A3_ENST00000420231.2_Start_Codon_SNP_p.M1I	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	290						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATTTTCCATTTCCTGAA	0.303000													10	67					0	0	0.000442599	0	0
OR2A2	442361	broad.mit.edu	37	7	143807483	143807483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:143807483G>A	ENST00000408979.2	+	1	877	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGGAGCAGGAGAAAATGCT	0.517000													28	50					0	0	0.000279167	0	0
CD226	10666	broad.mit.edu	37	18	67614037	67614037	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:67614037G>A	ENST00000280200.4	-	3	583	c.315C>T	c.(313-315)taC>taT	p.Y105Y	CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Silent_p.Y105Y|CD226_ENST00000577287.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	105	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGCAGGAATAGTAGCCAACAT	0.418000													22	59					0	0	0.000375601	0	0
DGKQ	1609	broad.mit.edu	37	4	961364	961364	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:961364G>A	ENST00000273814.3	-	8	1033	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	320					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCAGGCGGGACACCGTGA	0.672000													93	427					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82595334	82595334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82595334G>A	ENST00000423517.2	-	4	4107	c.3770C>T	c.(3769-3771)cCa>cTa	p.P1257L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1257L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1196					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTTCTTCTGGGGCTGATGT	0.408000													65	85					0	0	0.000781405	0	0
RIMBP2	23504	broad.mit.edu	37	12	130935832	130935832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:130935832G>A	ENST00000261655.4	-	5	524	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	RIMBP2_ENST00000536002.1_Missense_Mutation_p.L29F|RIMBP2_ENST00000535703.1_Missense_Mutation_p.L29F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	121						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCTGCGGAAGGGGCCGGATA	0.547000													142	186					0	0	0.000781405	0	0
PDE1C	5137	broad.mit.edu	37	7	32209401	32209401	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:32209401A>G	ENST00000396193.1	-	3	897	c.304T>C	c.(304-306)Ttc>Ctc	p.F102L		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	42					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCAAACCTGAAGGATGTCTTC	0.468000													15	32					0	0	0.00074312	0	0
ESRRB	2103	broad.mit.edu	37	14	76905876	76905876	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:76905876C>T	ENST00000380887.2	+	2	252	c.180C>T	c.(178-180)ccC>ccT	p.P60P	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.P60P|ESRRB_ENST00000509242.1_Silent_p.P60P|ESRRB_ENST00000556177.1_Silent_p.P60P			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ACTCGCCACCCATGTTTGCAG	0.677000													162	248					0	0	0.000781405	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404442	61404442	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:61404442G>A	ENST00000496593.1	+	0	1046					NR_002775.2																						ACCTCACTGAGATCAGGGACC	0.582000													24	78					0	0	0.000375601	0	0
SLC6A6	6533	broad.mit.edu	37	3	14489185	14489185	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:14489185C>A	ENST00000454876.2	+	5	789	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	SLC6A6_ENST00000360861.3_Missense_Mutation_p.Q154K|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.Q154K			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	154					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCAGTCCTTCCAGAAGGAGCT	0.542000													11	1003					3.86212e-05	0.00054602	0.000673444	1	0
SGK223	157285	broad.mit.edu	37	8	8185814	8185814	+	Silent	SNP	C	C	A	rs55844905		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:8185814C>A	ENST00000520004.1	-	5	2742	c.2478G>T	c.(2476-2478)ccG>ccT	p.P826P	SGK223_ENST00000330777.4_Silent_p.P826P			Q86YV5	SG223_HUMAN		826							ATP binding|non-membrane spanning protein tyrosine kinase activity										AGAAGCCATCCGGTGAAGAGG	0.612000													10	1264					0.000274275	0.00383431	0.000274275	1	0
CUBN	8029	broad.mit.edu	37	10	17153034	17153034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:17153034C>T	ENST00000377833.4	-	9	964	c.899G>A	c.(898-900)gGa>gAa	p.G300E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	300	EGF-like 3; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCAAATATATCCATTGCCTTG	0.408000													67	94					0	0	0.000781405	0	0
ADI1	55256	broad.mit.edu	37	2	3504605	3504605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:3504605G>A	ENST00000382093.5	-	3	3219	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	ADI1_ENST00000327435.6_Missense_Mutation_p.R134C			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	134					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		ACCGTGAAGCGGTGATAGATC	0.632000													137	240					0	0	0.000781405	0	0
ZNF365	22891	broad.mit.edu	37	10	64148314	64148314	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:64148314C>T	ENST00000395254.3	+	3	1183	c.903C>T	c.(901-903)gtC>gtT	p.V301V	ZNF365_ENST00000410046.3_Silent_p.V301V|ZNF365_ENST00000395255.3_Silent_p.V301V|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTGGCTTTGTCCGTGATCTCA	0.572000													33	63					0	0	0.000814825	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468316	25468316	+	RNA	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:25468316T>C	ENST00000453082.2	+	0	864					NR_003343.1																						CCTGGCGCCCTGGTCTCCTGA	0.572000													11	585					0	0	6.40141e-05	0	0
C19orf35	374872	broad.mit.edu	37	19	2278610	2278610	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:2278610C>T	ENST00000342063.3	-	3	678	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	195										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GCCAGGCGTCCTCGTGCGCGC	0.672000													177	318					0	0	0.000781405	0	0
HBP1	26959	broad.mit.edu	37	7	106836293	106836293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:106836293C>T	ENST00000222574.4	+	9	1268	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.P361L|HBP1_ENST00000468410.1_Missense_Mutation_p.P361L	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	361					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GACTTCACACCTATGGATTCT	0.323000													27	51					0	0	0.000184323	0	0
SGSM1	129049	broad.mit.edu	37	22	25315917	25315917	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:25315917G>A	ENST00000400358.4	+	24	3207	c.3150G>A	c.(3148-3150)ttG>ttA	p.L1050L	SGSM1_ENST00000400359.4_Silent_p.L1105L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1105	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACATCATTTTGGAGAACAACA	0.522000													20	31					0	0	0.000958276	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583408	80583408	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:80583408A>G	ENST00000305904.6	+	3	227	c.107A>G	c.(106-108)aAc>aGc	p.N36S	DYNLRB2_ENST00000562982.1_Missense_Mutation_p.N65S|DYNLRB2_ENST00000568035.1_Intron|RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR|RP11-525K10.3_ENST00000568776.1_RNA	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	36					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						ACCTTGGACAACTCAACAACT	0.358000													43	71					0	0	0.000589545	0	0
FAM24A	118670	broad.mit.edu	37	10	124671195	124671195	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124671195C>T	ENST00000368894.1	+	2	166	c.45C>T	c.(43-45)atC>atT	p.I15I		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	15						extracellular region		p.I15M(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TGATCGGCATCGGAAGCAGCT	0.498000													57	134					0	0	0.000781405	0	0
DSC3	1825	broad.mit.edu	37	18	28605778	28605778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28605778C>T	ENST00000434452.1	-	5	732	c.578G>A	c.(577-579)gGa>gAa	p.G193E	DSC3_ENST00000360428.4_Missense_Mutation_p.G193E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	193	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAATAGATTTCCAGTGTCTCT	0.333000													23	51					0	0	0.000229342	0	0
NDUFA13	51079	broad.mit.edu	37	19	19627014	19627014	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:19627014C>T	ENST00000252576.5	+	1	216	c.216C>T	c.(214-216)ttC>ttT	p.F72F	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13									p.F72F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TAAGTCACTTCCGCCCGGGAC	0.607000													261	355					0	0	0.000781405	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306762	27306762	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:27306762C>T	ENST00000380320.4	+	4	2822	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	775					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGCAGCCCTGCTGGAGAA	0.692000													136	165					0	0	0.000781405	0	0
MYO5B	4645	broad.mit.edu	37	18	47429091	47429091	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:47429091C>G	ENST00000285039.7	-	21	2983	c.2684G>C	c.(2683-2685)cGg>cCg	p.R895P	MYO5B_ENST00000324581.6_Missense_Mutation_p.R36P	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	895	Arg-rich.|IQ 5.|IQ 6.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTGAGCATCCGGAAGGCACA	0.622000													51	90					0	0	0.000781405	0	0
FAM65C	140876	broad.mit.edu	37	20	49208975	49208975	+	Missense_Mutation	SNP	C	C	G	rs116291748	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:49208975C>G	ENST00000327979.2	-	19	2882	c.2471G>C	c.(2470-2472)tGg>tCg	p.W824S	FAM65C_ENST00000045083.2_Missense_Mutation_p.W824S|FAM65C_ENST00000535356.1_Missense_Mutation_p.W828S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	824										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCAGCGCCCAGGCTCTTAA	0.662000													5	409					0	0	0.000602214	0	0
FBXO2	26232	broad.mit.edu	37	1	11709883	11709883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:11709883C>T	ENST00000354287.4	-	4	911	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	190	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTCCTCCCAGTAGCCCT	0.637000													188	371					0	0	0.000781405	0	0
AP3B2	8120	broad.mit.edu	37	15	83349746	83349746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:83349746G>A	ENST00000261722.3	-	7	821	c.614C>T	c.(613-615)gCc>gTc	p.A205V	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.A205V|AP3B2_ENST00000535348.1_Missense_Mutation_p.A173V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	205					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTCCTCAAAGGCCATCACCAC	0.617000													131	332					0	0	0.000781405	0	0
HGD	3081	broad.mit.edu	37	3	120360505	120360505	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:120360505C>T	ENST00000283871.5	-	11	1269	c.810G>A	c.(808-810)ggG>ggA	p.G270G		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	270			G -> R (in AKU).		L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GTGTATAATTCCCGTGCCAGG	0.443000													23	48					0	0	0.000375601	0	0
IKZF1	10320	broad.mit.edu	37	7	50367321	50367321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:50367321G>A	ENST00000331340.3	+	3	283	c.128G>A	c.(127-129)gGa>gAa	p.G43E	IKZF1_ENST00000357364.4_Missense_Mutation_p.G43E|IKZF1_ENST00000359197.5_Missense_Mutation_p.G43E|IKZF1_ENST00000439701.1_Missense_Mutation_p.G43E|IKZF1_ENST00000438033.1_Missense_Mutation_p.G43E|IKZF1_ENST00000413698.1_Missense_Mutation_p.G43E|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000440768.2_Missense_Mutation_p.G43E|IKZF1_ENST00000343574.5_Missense_Mutation_p.G43E|IKZF1_ENST00000346667.4_Missense_Mutation_p.G43E|IKZF1_ENST00000349824.4_Missense_Mutation_p.G43E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	43					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(33)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCTCGGGAGGACAGCAAAGC	0.547000			"""D,T"""	BCL6	"""ALL, DLBCL"""								29	24					0	0	0.000279167	0	0
TTBK1	84630	broad.mit.edu	37	6	43230740	43230740	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:43230740C>T	ENST00000259750.4	+	13	1721	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	TTBK1_ENST00000304139.5_Silent_p.I495I	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	546						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGTCATCATCGACAAGGAGA	0.647000													68	140					0	0	0.000781405	0	0
TVP23A	780776	broad.mit.edu	37	16	10867218	10867218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:10867218C>T	ENST00000299866.8	-	5	696	c.405G>A	c.(403-405)tgG>tgA	p.W135*	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1			trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)																		AAAACACAATCCATATCATGG	0.423000													156	248					0	0	0.000781405	0	0
CR1L	1379	broad.mit.edu	37	1	207850845	207850845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:207850845C>T	ENST00000508064.2	+	2	269	c.209C>T	c.(208-210)tCc>tTc	p.S70F	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	70	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTGGTTATTCCGGAAGACCG	0.473000													286	355					0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34208909	34208909	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34208909C>T	ENST00000373381.4	-	14	2321	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	675	Sushi 4.					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)				AGCCCCTCTTCCCTGTGGAGT	0.592000													30	35					0	0	0.000184323	0	0
TMEM63A	9725	broad.mit.edu	37	1	226055587	226055587	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:226055587C>T	ENST00000366835.3	-	7	785		c.e7+1			NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A							integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGGGTCATTACCCAGCAAGTC	0.547000													132	125					0	0	0.000781405	0	0
SP140L	93349	broad.mit.edu	37	2	231222673	231222673	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:231222673A>T	ENST00000243810.6	+	3	261	c.261A>T	c.(259-261)aaA>aaT	p.K87N	SP140L_ENST00000444636.1_Missense_Mutation_p.K87N|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000396563.4_Missense_Mutation_p.K87N|SP140L_ENST00000415673.2_Missense_Mutation_p.K87N|SP140L_ENST00000458341.1_5'UTR			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	87	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TCACAAATAAAATGTTTGAAG	0.363000													150	207					0	0	0.000781405	0	0
SPPL3	121665	broad.mit.edu	37	12	121205252	121205252	+	Silent	SNP	G	G	A	rs148802591	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:121205252G>A	ENST00000353487.2	-	9	1421	c.918C>T	c.(916-918)tcC>tcT	p.S306S		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	307						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCATGCGCCCGGAGATGTTGG	0.532000													70	66					0	0	0.000781405	0	0
IFT74	80173	broad.mit.edu	37	9	26962038	26962038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:26962038C>T	ENST00000443698.1	+	2	244	c.73C>T	c.(73-75)Cct>Tct	p.P25S	IFT74_ENST00000429045.2_Missense_Mutation_p.P25S|IFT74_ENST00000433700.1_Missense_Mutation_p.P25S|IFT74_ENST00000380062.5_Missense_Mutation_p.P25S	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	25						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGGAAGGCCTCCTTCTGGGAT	0.468000													123	209					0	0	0.000781405	0	0
TECRL	253017	broad.mit.edu	37	4	65274970	65274970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:65274970G>A	ENST00000381210.3	-	1	210	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	TECRL_ENST00000507440.1_Missense_Mutation_p.H34Y	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	34					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GACAAAAAGTGAAAATTTCTC	0.413000													5	31					0	0	0.000602214	0	0
SSPO	23145	broad.mit.edu	37	7	149492394	149492394	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:149492394C>T	ENST00000378016.2	+	0	6283							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGCCCTCCTGGGGGCTCC	0.677000													177	291					0	0	0.000781405	0	0
ZNF615	284370	broad.mit.edu	37	19	52505121	52505121	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52505121T>A	ENST00000602063.1	-	5	532	c.183A>T	c.(181-183)gaA>gaT	p.E61D	ZNF615_ENST00000376716.5_Missense_Mutation_p.E61D|ZNF615_ENST00000594083.1_Missense_Mutation_p.E61D|ZNF615_ENST00000391795.3_Missense_Mutation_p.E66D|ZNF615_ENST00000598071.1_Missense_Mutation_p.E61D|ZNF615_ENST00000597747.1_Missense_Mutation_p.E61D			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTCTCCTCGTTCCAATTTGG	0.453000													45	167					0	0	0.000781405	0	0
IFFO1	25900	broad.mit.edu	37	12	6657269	6657269	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:6657269G>T	ENST00000436152.2	-	9	1055	c.496C>A	c.(496-498)Cgg>Agg	p.R166R	IFFO1_ENST00000336604.4_Silent_p.R472R|IFFO1_ENST00000356896.4_Silent_p.R473R|IFFO1_ENST00000396840.2_Silent_p.R469R|IFFO1_ENST00000465801.1_Silent_p.R165R			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	469						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TCCTTCTCCCGGGTTTTGAAC	0.572000													14	2581					0.000442599	0.00615569	0.000442599	1	0
MYCT1	80177	broad.mit.edu	37	6	153019226	153019226	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:153019226C>T	ENST00000367245.5	+	1	197	c.189C>T	c.(187-189)aaC>aaT	p.N63N	MYCT1_ENST00000529453.1_Silent_p.N63N	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	63						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GGCCAGAAAACTTTTGGGGTA	0.313000													18	22					0	0	0.00074312	0	0
PLCH1	23007	broad.mit.edu	37	3	155200483	155200483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:155200483C>T	ENST00000460012.1	-	23	3599	c.3242G>A	c.(3241-3243)gGg>gAg	p.G1081E	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1081E|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1081E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1119E|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1119					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATGCTTTTCCCTTCCACAAA	0.463000													198	281					0	0	0.000781405	0	0
TRO	7216	broad.mit.edu	37	X	54956372	54956372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:54956372C>T	ENST00000173898.7	+	12	3327	c.3215C>T	c.(3214-3216)gCc>gTc	p.A1072V	TRO_ENST00000420798.2_Missense_Mutation_p.A603V|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.A675V	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1072	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTTGGCTGTGCCGTCAGCACC	0.567000													59	10					0	0	0.000781405	0	0
MBNL2	10150	broad.mit.edu	37	13	97995409	97995409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:97995409C>T	ENST00000345429.6	+	4	1260	c.479C>T	c.(478-480)cCa>cTa	p.P160L	MBNL2_ENST00000343600.4_Missense_Mutation_p.P160L|MBNL2_ENST00000376673.3_Missense_Mutation_p.P160L|MBNL2_ENST00000397601.1_Missense_Mutation_p.P160L|MBNL2_ENST00000445661.2_Intron	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	160					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CCCGGAAGTCCACCGGTCACT	0.502000													195	356					0	0	0.000781405	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35501050	35501050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:35501050C>T	ENST00000599564.1	+	6	712	c.641C>T	c.(640-642)tCt>tTt	p.S214F	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.S120F|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.S127F|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.S127F|GRAMD1A_ENST00000598073.1_3'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	127						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCTACCTCTCTGAGAACTGG	0.657000													429	743					0	0	0.000781405	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945466	119945466	+	Missense_Mutation	SNP	G	G	A	rs150777320		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:119945466G>A	ENST00000297350.4	-	2	482	c.104C>T	c.(103-105)aCc>aTc	p.T35I		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	35					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CTGATGAGAGGTTTCTTCGTC	0.483000													130	239					0	0	0.000781405	0	0
TEX14	56155	broad.mit.edu	37	17	56646619	56646619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:56646619C>T	ENST00000389934.3	-	27	4057	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K	TEX14_ENST00000349033.5_Missense_Mutation_p.E1274K|TEX14_ENST00000240361.8_Missense_Mutation_p.E1320K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1320						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAAGGCTTCTACTAGTTTT	0.413000													40	61					0	0	0.000374591	0	0
NOP56	10528	broad.mit.edu	37	20	2636010	2636010	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2636010C>T	ENST00000329276.5	+	6	1125	c.609C>T	c.(607-609)atC>atT	p.I203I		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	203					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGGTGAAGATCATCAACGACA	0.517000													448	699					0	0	0.000781405	0	0
OXCT1	5019	broad.mit.edu	37	5	41840595	41840595	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:41840595G>T	ENST00000196371.5	-	7	850	c.690C>A	c.(688-690)ttC>ttA	p.F230L	OXCT1_ENST00000509987.1_Missense_Mutation_p.F44L	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	230					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTGGCAAGTTGAAATTCCTTG	0.368000													26	25					4.43304e-23	6.37545e-22	0.000147802	1	0
OR51B2	79345	broad.mit.edu	37	11	5345263	5345263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5345263C>T	ENST00000328813.2	-	1	319	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTAATCTCCCTGTGATTC	0.493000													12	28					0	0	6.40141e-05	0	0
XDH	7498	broad.mit.edu	37	2	31604542	31604542	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:31604542G>A	ENST00000379416.3	-	12	1137	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	363	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCATGAACACGGGGTTGAGGT	0.577000													19	31					0	0	0.000229342	0	0
IGHD	3495	broad.mit.edu	37	14	106306637	106306637	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:106306637G>A	ENST00000390556.2	-	0	1125																											TGCCTAGTATGGATTCCAGCT	0.657000													11	21					0	0	0.000673444	0	0
TBX2	6909	broad.mit.edu	37	17	59485551	59485551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:59485551G>A	ENST00000240328.3	+	7	2104	c.1823G>A	c.(1822-1824)cGg>cAg	p.R608Q	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	608					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						TCCCTCTCCCGGAGCCCCTTC	0.701000													120	174					0	0	0.000781405	0	0
ADAM28	10863	broad.mit.edu	37	8	24193057	24193057	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:24193057C>T	ENST00000265769.4	+	14	1580	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.F257F|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.F237F|ADAM28_ENST00000437154.2_Silent_p.F490F	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	490	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGATAGATTCCAAGTCAATG	0.512000													11	24					0	0	0.000151284	0	0
PM20D1	148811	broad.mit.edu	37	1	205814567	205814567	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:205814567G>A	ENST00000367136.4	-	3	419	c.375C>T	c.(373-375)caC>caT	p.H125H	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	125						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCACATCAAAGTGAGCCATCA	0.572000													187	464					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61829923	61829923	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61829923T>G	ENST00000280772.1	-	37	10907	c.10716A>C	c.(10714-10716)gaA>gaC	p.E3572D	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3572					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGAGCGGTCTTCTACCGCCA	0.483000													9	21					0	0	0.000673444	0	0
DNAH11	8701	broad.mit.edu	37	7	21723441	21723441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:21723441C>T	ENST00000328843.6	+	33	5552	c.5521C>T	c.(5521-5523)Cgt>Tgt	p.R1841C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1834C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1841	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCTCAACTTCGTCACCGATG	0.438000									Kartagener syndrome				96	190					0	0	0.000781405	0	0
MMP10	4319	broad.mit.edu	37	11	102650355	102650355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:102650355C>T	ENST00000279441.4	-	2	263	c.227G>A	c.(226-228)gGg>gAg	p.G76E		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	76					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GTCTAGCTTCCCTGTCACCTC	0.483000													19	67					0	0	0.000132079	0	0
PSMA4	5685	broad.mit.edu	37	15	78834849	78834849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:78834849C>T	ENST00000044462.7	+	4	221	c.71C>T	c.(70-72)gCc>gTc	p.A24V	PSMA4_ENST00000559082.1_Missense_Mutation_p.A24V|PSMA4_ENST00000558341.1_Missense_Mutation_p.A24V|PSMA4_ENST00000558281.1_Missense_Mutation_p.A24V|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000560217.1_Intron	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	24					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTTGAATATGCCATGGAAGCT	0.453000													11	1503					0	0	0.000673444	0	0
ITGA5	3678	broad.mit.edu	37	12	54795606	54795606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:54795606G>A	ENST00000293379.4	-	22	2521	c.2260C>T	c.(2260-2262)Ctc>Ttc	p.L754F	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	754					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTGTCCCGGAGATGAGGGACT	0.557000													110	127					0	0	0.000781405	0	0
CRLF2	64109	broad.mit.edu	37	X	1314897	1314897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:1314897C>T	ENST00000381567.3	-	6	763	c.764G>A	c.(763-765)tGg>tAg	p.W255*	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	255						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCCTTACCTCCATAATTTCCA	0.473000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								61	51					0	0	0.000781405	0	0
PARD6G	84552	broad.mit.edu	37	18	77917847	77917847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:77917847G>A	ENST00000353265.3	-	3	1135	c.938C>T	c.(937-939)cCc>cTc	p.P313L	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	313					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CGGGGTCTGGGGGGGACGTGC	0.746000													40	49					0	0	0.000509022	0	0
SPAG6	9576	broad.mit.edu	37	10	22676824	22676824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:22676824G>A	ENST00000376603.2	+	6	1121	c.979G>A	c.(979-981)Gag>Aag	p.E327K	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.E251K|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.E251K|SPAG6_ENST00000538630.1_Missense_Mutation_p.E226K			O75602	SPAG6_HUMAN	sperm associated antigen 6	251					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGTTGAAGCAGAGATTTTTCC	0.383000													15	27					0	0	0.000219431	0	0
OR4K2	390431	broad.mit.edu	37	14	20345023	20345023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20345023G>A	ENST00000298642.2	+	1	633	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTCTTTATGATCTCAACAA	0.403000													232	1566					0	0	0.000781405	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454578	114454578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:114454578C>T	ENST00000369563.3	+	4	1810	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	455					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTTAGGGTCCCCCTTGGTA	0.517000								Other identified genes with known or suspected DNA repair function					431	625					0	0	0.000781405	0	0
GALNT13	114805	broad.mit.edu	37	2	154996960	154996960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:154996960C>T	ENST00000392825.3	+	4	820	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F	GALNT13_ENST00000409237.1_Missense_Mutation_p.L85F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	85						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCAGTTTAACCTTATGGCCAG	0.348000													20	35					0	0	0.000175454	0	0
PDIK1L	149420	broad.mit.edu	37	1	26440897	26440897	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:26440897G>C	ENST00000374271.4	+	3	385	c.98G>C	c.(97-99)cGg>cCg	p.R33P	PDIK1L_ENST00000374269.1_Missense_Mutation_p.R33P	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	33	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCTGCACGGGTGGCAGTG	0.478000													4	313					0	0	0.00024832	0	0
MYLK	4638	broad.mit.edu	37	3	123451843	123451843	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:123451843G>A	ENST00000360772.3	-	12	1794	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	MYLK_ENST00000346322.5_Intron|MYLK_ENST00000359169.1_Silent_p.L472L|MYLK_ENST00000360304.3_Silent_p.L472L|MYLK_ENST00000475616.1_Silent_p.L472L			Q15746	MYLK_HUMAN	myosin light chain kinase	472	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAGCAGGCAGAGGTAATGGG	0.577000													40	64					0	0	0.000953801	0	0
HHIP	64399	broad.mit.edu	37	4	145573916	145573916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:145573916G>T	ENST00000296575.3	+	2	1094	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Nonsense_Mutation_p.E147*|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	147						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTATTGCAAAGAATTCTTTTA	0.388000													104	515					3.54964e-55	5.12766e-54	0.000781405	1	0
BCL2L12	83596	broad.mit.edu	37	19	50170415	50170415	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:50170415C>A	ENST00000246785.3	+	3	757	c.499C>A	c.(499-501)Cct>Act	p.P167T	BCL2L12_ENST00000246784.3_Intron|BCL2L12_ENST00000441864.2_Missense_Mutation_p.P166T	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	167					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TGGTTTAGAGCCTGGTAAGAG	0.567000													597	1229					1.2677e-92	1.83943e-91	0.000781405	1	0
EXOC6	54536	broad.mit.edu	37	10	94669218	94669218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:94669218G>A	ENST00000371552.4	+	6	507	c.478G>A	c.(478-480)Gag>Aag	p.E160K	EXOC6_ENST00000260762.6_Missense_Mutation_p.E165K|EXOC6_ENST00000443748.2_Missense_Mutation_p.E165K|EXOC6_ENST00000371547.4_Missense_Mutation_p.E181K	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	165					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GGAACAATTAGAGAATGTGTA	0.333000													97	205					0	0	0.000781405	0	0
ARL11	115761	broad.mit.edu	37	13	50204832	50204832	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:50204832C>T	ENST00000282026.1	+	2	584	c.249C>T	c.(247-249)atC>atT	p.I83I	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	83					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCACAGATATCCTCGTGTACG	0.612000													135	246					0	0	0.000781405	0	0
IFNA4	3441	broad.mit.edu	37	9	21187427	21187427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:21187427C>T	ENST00000421715.1	-	1	171	c.104G>A	c.(103-105)aGg>aAg	p.R35K		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	35					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGGCCCTCCTATTACCCAG	0.522000													28	41					0	0	0.000491102	0	0
SHD	56961	broad.mit.edu	37	19	4283124	4283124	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:4283124C>T	ENST00000543264.2	+	3	1940	c.477C>T	c.(475-477)ccC>ccT	p.P159P	SHD_ENST00000599689.1_Silent_p.P159P	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	159										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATGGACCCCCTTCTGGGC	0.582000													166	344					0	0	0.000781405	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6532641	6532641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:6532641C>T	ENST00000377748.1	-	11	1754	c.1257G>A	c.(1255-1257)tgG>tgA	p.W419*	PLEKHG5_ENST00000544978.1_Nonsense_Mutation_p.W342*|PLEKHG5_ENST00000537245.1_Nonsense_Mutation_p.W421*|PLEKHG5_ENST00000340850.5_Nonsense_Mutation_p.W342*|PLEKHG5_ENST00000377725.1_Nonsense_Mutation_p.W342*|PLEKHG5_ENST00000377732.1_Nonsense_Mutation_p.W379*|PLEKHG5_ENST00000400913.1_Nonsense_Mutation_p.W342*|PLEKHG5_ENST00000377740.3_Nonsense_Mutation_p.W419*|PLEKHG5_ENST00000535355.1_Nonsense_Mutation_p.W411*|PLEKHG5_ENST00000377737.2_Nonsense_Mutation_p.W342*|PLEKHG5_ENST00000377728.3_Nonsense_Mutation_p.W342*|PLEKHG5_ENST00000400915.3_Nonsense_Mutation_p.W398*	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	398	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCAGCTCCCACACCGCCT	0.667000													92	151					0	0	0.000781405	0	0
NUP210	23225	broad.mit.edu	37	3	13359188	13359188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:13359188G>A	ENST00000254508.5	-	40	5739	c.5657C>T	c.(5656-5658)tCc>tTc	p.S1886F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1886					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCCTAGTGGGAGGCATAGGC	0.612000													43	58					0	0	0.000509022	0	0
PCDH7	5099	broad.mit.edu	37	4	30724810	30724810	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:30724810G>T	ENST00000361762.2	+	1	2774	c.1766G>T	c.(1765-1767)gGg>gTg	p.G589V	PCDH7_ENST00000543491.1_Missense_Mutation_p.G589V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	589	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCCGATTCTGGGGACATCCTG	0.572000													13	432					0.00010058	0.00141583	0.00010058	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33667329	33667329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:33667329C>T	ENST00000321505.4	+	16	4796	c.4616C>T	c.(4615-4617)tCc>tTc	p.S1539F	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1545F					KIAA1549-like																		TCGGAGACCTCCACACTGAGC	0.602000													137	557					0	0	0.000781405	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													6	221					0	0	3.59834e-05	0	0
TTYH3	80727	broad.mit.edu	37	7	2692625	2692625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:2692625G>A	ENST00000258796.7	+	9	1206	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*	TTYH3_ENST00000407643.1_Nonsense_Mutation_p.W302*|TTYH3_ENST00000403167.1_Nonsense_Mutation_p.W163*	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	334						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		ACCGTCCCCTGGGAGCAGCCG	0.602000													45	91					0	0	0.000781405	0	0
UTRN	7402	broad.mit.edu	37	6	144811249	144811249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:144811249G>A	ENST00000367545.3	+	30	4177	c.4177G>A	c.(4177-4179)Gag>Aag	p.E1393K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1393	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACCCTAGAGGAGTTGAGAAG	0.448000													275	152					0	0	0.000781405	0	0
GPR112	139378	broad.mit.edu	37	X	135429626	135429626	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:135429626T>G	ENST00000394143.1	+	6	4052	c.3761T>G	c.(3760-3762)tTa>tGa	p.L1254*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.L1254*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.L1191*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.L1049*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.L1049*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1254					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTCTGTCTTATCTTCCGAC	0.418000													24	8					0	0	0.00047179	0	0
COL14A1	7373	broad.mit.edu	37	8	121238917	121238917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:121238917G>A	ENST00000297848.3	+	16	2186	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S544N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S639N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	639	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACGACAGACAGTTTTAGGGTG	0.473000													11	21					0	0	0.000151284	0	0
CDH7	1005	broad.mit.edu	37	18	63548088	63548088	+	Silent	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:63548088C>G	ENST00000397968.2	+	12	2742	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	CDH7_ENST00000323011.3_Silent_p.L772L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	772					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L772L(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTAAACGACTCGCGGACATGT	0.413000													94	188					0	0	0.000781405	0	0
ABCA4	24	broad.mit.edu	37	1	94486960	94486960	+	Nonsense_Mutation	SNP	C	C	T	rs61752439		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:94486960C>T	ENST00000370225.3	-	35	4940	c.4854G>A	c.(4852-4854)tgG>tgA	p.W1618*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1618					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGTTATTAAACCACACCTAGA	0.512000													114	188					0	0	0.000781405	0	0
NDUFA13	51079	broad.mit.edu	37	19	19627015	19627015	+	Missense_Mutation	SNP	C	C	T	rs147346438		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:19627015C>T	ENST00000252576.5	+	1	217	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						AAGTCACTTCCGCCCGGGACC	0.607000													234	384					0	0	0.000781405	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234799	44234799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:44234799C>T	ENST00000330884.4	-	4	576	c.456G>A	c.(454-456)atG>atA	p.M152I	SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152I|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	152					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CTCGGTAGCTCATGGTCCGCA	0.527000													216	355					0	0	0.000781405	0	0
MYH11	4629	broad.mit.edu	37	16	15815413	15815413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:15815413C>T	ENST00000338282.6	-	32	4550	c.4444G>A	c.(4444-4446)Gaa>Aaa	p.E1482K	MYH11_ENST00000300036.5_Missense_Mutation_p.E1482K|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.E1482K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1489K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1489K|NDE1_ENST00000396355.1_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1482					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCTTGGTTTCCTTCTCCCTG	0.532000			T	CBFB	AML								213	366					0	0	0.000781405	0	0
MROH7	374977	broad.mit.edu	37	1	55174699	55174699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:55174699C>T	ENST00000414150.2	+	23	3958	c.3680C>T	c.(3679-3681)cCc>cTc	p.P1227L	MROH7_ENST00000421030.2_Missense_Mutation_p.P1227L|MROH7_ENST00000454855.2_Missense_Mutation_p.P745L|MROH7_ENST00000409996.1_Missense_Mutation_p.P795L					maestro heat-like repeat family member 7																		TCCCTGGTCCCCTGCATGGAG	0.522000													217	373					0	0	0.000781405	0	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													7	369					0	0	0.000229342	0	0
KIDINS220	57498	broad.mit.edu	37	2	8873729	8873729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:8873729G>A	ENST00000256707.3	-	29	4079	c.3898C>T	c.(3898-3900)Ccg>Tcg	p.P1300S	KIDINS220_ENST00000473731.1_Missense_Mutation_p.P1281S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.P1281S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P1201S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1300					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCACCGTGCGGGGCTGGGCCA	0.567000													147	244					0	0	0.000781405	0	0
SNAP25	6616	broad.mit.edu	37	20	10273863	10273863	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:10273863A>C	ENST00000254976.2	+	5	429	c.218A>C	c.(217-219)gAa>gCa	p.E73A	SNAP25_ENST00000304886.2_Intron|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	73	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GACATGAAAGAAGCAGAAAAG	0.443000													31	86					0	0	0.00058488	0	0
HOXB6	3216	broad.mit.edu	37	17	46673891	46673891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:46673891C>A	ENST00000484302.2	-	3	1181	c.559G>T	c.(559-561)Gag>Tag	p.E187*	HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.E187*|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000465846.2_RNA			P17509	HXB6_HUMAN	homeobox B6	187					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATCTGCCTCTCCGTCAGGCAC	0.582000													633	1140					8.569e-111	1.24615e-109	0.000781405	1	0
SHANK1	50944	broad.mit.edu	37	19	51171679	51171679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:51171679C>T	ENST00000293441.1	-	22	3556	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	SHANK1_ENST00000391813.1_Missense_Mutation_p.E567K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E1171K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E1188K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1180					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTGGGGGGCTCCGCCTCGGTG	0.756000													129	162					0	0	0.000781405	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325399	47325399	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:47325399G>A	ENST00000505841.1	-	0	1130					NR_002788.2																						CTACCGGTGCGTAGAGGCGGA	0.473000													16	83					0	0	0.000308642	0	0
FBXO39	162517	broad.mit.edu	37	17	6683895	6683895	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:6683895C>T	ENST00000321535.4	+	2	838	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	236										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACAACTGTATCTCCGACGAGC	0.507000													266	125					0	0	0.000781405	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599099	136599099	+	Missense_Mutation	SNP	G	G	A	rs57380832		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:136599099G>A	ENST00000531224.1	-	4	1172	c.920C>T	c.(919-921)cCa>cTa	p.P307L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.P307L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P305L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P305L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P305L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P307L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	307					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGCATTCTGTGGTGCGATTGT	0.448000													57	49					0	0	0.000781405	0	0
KCNT2	343450	broad.mit.edu	37	1	196227391	196227391	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:196227391T>C	ENST00000367433.5	-	25	3173	c.3072A>G	c.(3070-3072)gaA>gaG	p.E1024E	KCNT2_ENST00000294725.8_Silent_p.E1048E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.E982E|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1048						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCTTGTCTTTCTGACCTCC	0.428000													13	16					0	0	0.000151284	0	0
NALCN	259232	broad.mit.edu	37	13	101944421	101944421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:101944421C>T	ENST00000251127.6	-	9	1048	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	NALCN_ENST00000376196.3_Missense_Mutation_p.E323K|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	323						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAAATGTTTCAATGATAACA	0.408000													10	17					0	0	0.00010058	0	0
DNAH11	8701	broad.mit.edu	37	7	21789384	21789384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:21789384G>A	ENST00000328843.6	+	54	8814	c.8783G>A	c.(8782-8784)aGc>aAc	p.S2928N	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2921N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2928	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTAGATGAGAGCTTCCTCGTG	0.438000									Kartagener syndrome				12	13					0	0	0.00010058	0	0
ANKK1	255239	broad.mit.edu	37	11	113269692	113269692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:113269692G>A	ENST00000303941.3	+	8	1095	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	334							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCAGACTCAGGAAACTACCTG	0.542000													6	26					0	0	8.12818e-05	0	0
NR5A1	2516	broad.mit.edu	37	9	127253505	127253505	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:127253505C>T	ENST00000373588.4	-	6	1189	c.993G>A	c.(991-993)gtG>gtA	p.V331V		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	331	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						TGGTCAGCTCCACCTGGGGGC	0.697000													152	70					0	0	0.000781405	0	0
ABCD2	225	broad.mit.edu	37	12	39973353	39973353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:39973353G>A	ENST00000308666.3	-	8	1996	c.1861C>T	c.(1861-1863)Cgt>Tgt	p.R621C		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	621	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAAAACATACGAGCCATGCCC	0.358000													35	134					0	0	0.000437636	0	0
MYOC	4653	broad.mit.edu	37	1	171605184	171605184	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:171605184G>C	ENST00000037502.5	-	3	1455	c.1396C>G	c.(1396-1398)Cca>Gca	p.P466A		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	466	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTCTTGAATGGGATGGTCAGG	0.493000													4	342					0	0	0.00024832	0	0
NEBL	10529	broad.mit.edu	37	10	21250658	21250658	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:21250658G>A	ENST00000417816.2	-	4	653	c.300C>T	c.(298-300)atC>atT	p.I100I	NEBL_ENST00000377159.4_Silent_p.I66I	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	763					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCGTGACGATGCTGAAGC	0.458000													15	54					0	0	0.000308642	0	0
CCDC147	159686	broad.mit.edu	37	10	106118174	106118174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:106118174G>A	ENST00000369704.3	+	2	219	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	29										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGTTCTCCATGAACTTTCTGG	0.393000													97	133					0	0	0.000781405	0	0
TTC40	54777	broad.mit.edu	37	10	134626288	134626288	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:134626288C>T	ENST00000368586.5	-	55	7602		c.e55+1		TTC40_ENST00000263170.5_Splice_Site	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40											breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACACCTCTCACCTTGCAAGTT	0.612000													252	408					0	0	0.000781405	0	0
SH3GL2	6456	broad.mit.edu	37	9	17793432	17793432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:17793432C>T	ENST00000380607.4	+	8	916	c.796C>T	c.(796-798)Cca>Tca	p.P266S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.P219S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	266					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CCTGGAGTTTCCAACTGGAGA	0.473000													24	17					0	0	0.000375601	0	0
PLGLA	285189	broad.mit.edu	37	2	107007411	107007411	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:107007411G>A	ENST00000484422.1	+	0	260																											ACAGAGGGACGATGTCCAAAA	0.448000													10	10					0	0	0.000673444	0	0
GJD4	219770	broad.mit.edu	37	10	35896618	35896618	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:35896618G>A	ENST00000321660.1	+	2	335	c.177G>A	c.(175-177)ccG>ccA	p.P59P		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	59					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGCTGCAGCCGGGATGCGCCA	0.627000													263	548					0	0	0.000781405	0	0
PPP1R2	5504	broad.mit.edu	37	3	195245818	195245818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195245818G>A	ENST00000328432.3	-	5	928	c.568C>T	c.(568-570)Caa>Taa	p.Q190*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	190					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATCTAACCTTGATTTGATTCT	0.333000													102	168					0	0	0.000781405	0	0
MIR3654	100500804	broad.mit.edu	37	11	62346322	62346322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62346322C>T	ENST00000496634.2	-	5	916	c.871G>A	c.(871-873)Gac>Aac	p.D291N	TUT1_ENST00000308436.7_Missense_Mutation_p.D329N|TUT1_ENST00000476907.1_Missense_Mutation_p.D291N																NS(1)	1						AAGGCAGAGTCCGGAGTTTGG	0.617000													165	172					0	0	0.000781405	0	0
AK5	26289	broad.mit.edu	37	1	78001592	78001592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:78001592C>T	ENST00000344720.5	+	13	2437	c.1411C>T	c.(1411-1413)Ctt>Ttt	p.L471F	AK5_ENST00000354567.2_Missense_Mutation_p.L497F|AK5_ENST00000478255.1_Missense_Mutation_p.L12F	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	497					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GACCAACCGCCTTCTCCAAAG	0.582000													88	134					0	0	0.000781405	0	0
DAG1	1605	broad.mit.edu	37	3	49548071	49548071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:49548071C>T	ENST00000545947.1	+	5	826	c.104C>T	c.(103-105)cCc>cTc	p.P35L	DAG1_ENST00000538711.1_Missense_Mutation_p.P35L|DAG1_ENST00000515359.2_Missense_Mutation_p.P35L|DAG1_ENST00000479935.1_3'UTR|DAG1_ENST00000308775.2_Missense_Mutation_p.P35L|DAG1_ENST00000541308.1_Missense_Mutation_p.P35L|DAG1_ENST00000539901.1_Missense_Mutation_p.P35L	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	35	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCAGTGAACCCTCAGAGGCT	0.597000													48	111					0	0	0.000781405	0	0
PCGF3	10336	broad.mit.edu	37	4	758838	758838	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:758838A>T	ENST00000362003.5	+	10	1062	c.667A>T	c.(667-669)Agg>Tgg	p.R223W	PCGF3_ENST00000521023.2_Missense_Mutation_p.R189W|PCGF3_ENST00000470161.2_Missense_Mutation_p.R223W|AC139887.4_ENST00000454037.1_RNA|PCGF3_ENST00000505655.2_Missense_Mutation_p.R223W|RP11-440L14.1_ENST00000503571.1_RNA	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GGTTGTCACTAGGTGGAGATT	0.458000													235	181					0	0	0.000781405	0	0
AHSG	197	broad.mit.edu	37	3	186333516	186333516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:186333516G>A	ENST00000411641.2	+	2	475	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	AHSG_ENST00000273784.5_Missense_Mutation_p.E86K			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	86	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AGACACCCTGGAAACCACCTG	0.557000													117	166					0	0	0.000781405	0	0
MYO1H	283446	broad.mit.edu	37	12	109881337	109881337	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:109881337A>T	ENST00000310903.5	+	28	2765	c.2659A>T	c.(2659-2661)Aaa>Taa	p.K887*	MYO1H_ENST00000431443.2_Nonsense_Mutation_p.K897*			B4DNW6	B4DNW6_HUMAN	myosin IH	78						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCCGGTCATTAAATATGACAG	0.478000													34	103					0	0	0.000191422	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40842928	40842928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:40842928C>T	ENST00000264638.4	+	13	2244	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	676	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATCGAGTTCTCCTGCTACAAT	0.587000													437	814					0	0	0.000781405	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													22	341					0	0	0.000781405	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172237	21172237	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:21172237G>A	ENST00000421593.2	+	2	141	c.141G>A	c.(139-141)ccG>ccA	p.P47P	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)									p.P47P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACACAGACCGAAGTTAATTG	0.328000													8	49					0	0	0.000157383	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029730	193029730	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:193029730C>T	ENST00000342358.4	-	20	2437	c.2319_splice	c.e20-1	p.E774_splice	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	774					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATGTAGATTTCCTAAAATCAA	0.408000													16	35					0	0	0.00074312	0	0
OR4K2	390431	broad.mit.edu	37	14	20344984	20344984	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20344984G>A	ENST00000298642.2	+	1	594	c.558G>A	c.(556-558)caG>caA	p.Q186Q		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGTTCCAGTTGGCTTGTG	0.398000													255	1891					0	0	0.000781405	0	0
STK11IP	114790	broad.mit.edu	37	2	220478554	220478554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220478554G>A	ENST00000456909.1	+	21	2708	c.2618G>A	c.(2617-2619)gGc>gAc	p.G873D	STK11IP_ENST00000295641.10_Missense_Mutation_p.G884D			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	884					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTGGCAGGCCAGAGCCTG	0.662000													164	347					0	0	0.000781405	0	0
FLG2	388698	broad.mit.edu	37	1	152325726	152325726	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152325726C>T	ENST00000388718.5	-	3	4608	c.4536G>A	c.(4534-4536)ggG>ggA	p.G1512G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1512							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCGAGCCCCCTGAGTGCA	0.498000													147	128					0	0	0.000781405	0	0
TRIM29	23650	broad.mit.edu	37	11	120008368	120008368	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:120008368C>T	ENST00000341846.5	-	1	793	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	124					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCAGCTCGCCCTTTTCGGCAA	0.632000													685	718					0	0	0.000781405	0	0
SEZ6	124925	broad.mit.edu	37	17	27306818	27306818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:27306818C>T	ENST00000317338.12	-	3	1166	c.738G>A	c.(736-738)tgG>tgA	p.W246*	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Nonsense_Mutation_p.W246*|SEZ6_ENST00000360295.9_Nonsense_Mutation_p.W246*|SEZ6_ENST00000335960.6_Nonsense_Mutation_p.W246*			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	246						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CTGAGAAATTCCAGCTACAAG	0.562000													56	70					0	0	0.000781405	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203293	140203293	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:140203293C>A	ENST00000529859.1	+	1	1933	c.1933C>A	c.(1933-1935)Cgc>Agc	p.R645S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R645S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R645S	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGCCACCGCCTTCTGGT	0.667000													8	423					0.000673444	0.00928291	0.000673444	1	0
CCKBR	887	broad.mit.edu	37	11	6291139	6291139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6291139C>T	ENST00000525462.1	+	2	395	c.392C>T	c.(391-393)tCc>tTc	p.S131F	CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000334619.2_Missense_Mutation_p.S131F|CCKBR_ENST00000525014.1_Missense_Mutation_p.S131F			P32239	GASR_HUMAN	cholecystokinin B receptor	125					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAGGCGGTTTCCTACCTCATG	0.602000													202	214					0	0	0.000781405	0	0
CACNG1	786	broad.mit.edu	37	17	65041003	65041003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:65041003G>A	ENST00000226021.3	+	1	298	c.227G>A	c.(226-228)gGg>gAg	p.G76E		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	76					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	ACCCTGCCCGGGGGTAACGTA	0.642000													58	127					0	0	0.000781405	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996573	140996573	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:140996573A>T	ENST00000285879.4	+	4	3669	c.3383A>T	c.(3382-3384)gAa>gTa	p.E1128V	MAGEC1_ENST00000406005.2_Missense_Mutation_p.E195V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1128							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCACAGAAAGTGCAAGC	0.493000										HNSCC(15;0.026)			66	16					0	0	0.000781405	0	0
ZNF749	388567	broad.mit.edu	37	19	57955633	57955633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:57955633C>T	ENST00000334181.4	+	3	1367	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CGGTAGACATCAGAGAGTTCA	0.453000													153	259					0	0	0.000781405	0	0
DCP1A	55802	broad.mit.edu	37	3	53326729	53326729	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:53326729C>T	ENST00000607628.1	-	7	862	c.753G>A	c.(751-753)caG>caA	p.Q251Q	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Silent_p.Q251Q|DCP1A_ENST00000606822.1_Silent_p.Q213Q	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TGGGCTCTTTCTGGGAGGCAT	0.507000													41	44					0	0	0.000374591	0	0
HOXA2	3199	broad.mit.edu	37	7	27140431	27140431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:27140431C>T	ENST00000222718.5	-	2	1355	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	349						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ACGGGACTGTCGAGGGAACCT	0.463000													392	632					0	0	0.000781405	0	0
C1orf173	127254	broad.mit.edu	37	1	75086427	75086427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:75086427G>A	ENST00000326665.5	-	8	1209	c.991C>T	c.(991-993)Ctt>Ttt	p.L331F	C1orf173_ENST00000420661.2_Missense_Mutation_p.L134F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	331										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTTTTCAAGTAGTTTGCCT	0.353000													34	66					0	0	0.000692331	0	0
WDFY3	23001	broad.mit.edu	37	4	85696089	85696089	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:85696089G>A	ENST00000322366.6	-	29	5045	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	WDFY3_ENST00000295888.4_Silent_p.I1546I			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1546						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCAGCTTTGGGATTAACTGGA	0.378000													116	71					0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34182043	34182043	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34182043G>A	ENST00000373381.4	-	20	3236	c.3060C>T	c.(3058-3060)atC>atT	p.I1020I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	980	CUB 6.					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)				CGTTCTCAGTGATGAGGAGGT	0.577000													107	178					0	0	0.000781405	0	0
KRT15	3866	broad.mit.edu	37	17	39671830	39671830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:39671830C>T	ENST00000254043.3	-	6	4726	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	KRT15_ENST00000393976.2_Missense_Mutation_p.E381K|KRT15_ENST00000393974.3_Missense_Mutation_p.E216K|KRT15_ENST00000393981.3_Missense_Mutation_p.E216K	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	381	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GCCTCCATCTCGCATCGGAGC	0.602000													204	319					0	0	0.000781405	0	0
PDLIM2	64236	broad.mit.edu	37	8	22451335	22451335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:22451335G>A	ENST00000265810.4	+	9	1086	c.971G>A	c.(970-972)gGg>gAg	p.G324E	PDLIM2_ENST00000397761.2_Missense_Mutation_p.G324E|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409417.1_Missense_Mutation_p.G324E|PDLIM2_ENST00000409141.1_3'UTR|PDLIM2_ENST00000397760.4_Missense_Mutation_p.G324E|PDLIM2_ENST00000308354.7_Missense_Mutation_p.G574E|PDLIM2_ENST00000339162.7_3'UTR|AC037459.4_ENST00000430850.2_Missense_Mutation_p.G118E	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	324	LIM zinc-binding.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AAGATGCGCGGGCACTTCTGG	0.672000													38	96					0	0	0.000319135	0	0
TTN	7273	broad.mit.edu	37	2	179610386	179610386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179610386C>T	ENST00000360870.5	-	46	16963	c.16741G>A	c.(16741-16743)Gaa>Aaa	p.E5581K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9051	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCTCCTTCATCACTCTTT	0.393000													4	11					0	0	0.000602214	0	0
KIAA1210	57481	broad.mit.edu	37	X	118215320	118215320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:118215320C>T	ENST00000402510.2	-	14	5101	c.5102G>A	c.(5101-5103)tGg>tAg	p.W1701*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1701										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CATGTGGCTCCATGCTTTGGC	0.413000													297	86					0	0	0.000781405	0	0
KRBA2	124751	broad.mit.edu	37	17	8272565	8272565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:8272565C>T	ENST00000396267.1	-	2	1951	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	KRBA2_ENST00000331336.2_Missense_Mutation_p.E456K|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	456	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCAGCCCTTTCTTCCTGCCTG	0.488000													367	188					0	0	0.000781405	0	0
MPI	4351	broad.mit.edu	37	15	75188745	75188745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:75188745G>A	ENST00000563422.1	+	6	955	c.923G>A	c.(922-924)aGg>aAg	p.R308K	MPI_ENST00000535694.1_Intron|MPI_ENST00000566377.1_Intron|MPI_ENST00000562606.1_Missense_Mutation_p.R288K|MPI_ENST00000323744.6_Intron|MPI_ENST00000564003.1_Missense_Mutation_p.R197K|MPI_ENST00000563786.1_Intron|MPI_ENST00000352410.4_Intron			P34949	MPI_HUMAN	mannose phosphate isomerase	0					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ggaaggagaagggtggtcaag	0.562000													42	72					0	0	0.000228196	0	0
SLC30A4	7782	broad.mit.edu	37	15	45781175	45781175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:45781175G>A	ENST00000261867.4	-	5	1072	c.758C>T	c.(757-759)tCc>tTc	p.S253F	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	253					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TCTGGTAGGGGAATTTGAAGG	0.453000													28	58					0	0	0.000184323	0	0
ANKHD1	54882	broad.mit.edu	37	5	139781730	139781730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:139781730G>A	ENST00000297183.6	+	1	302	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	ANKHD1_ENST00000360839.2_Missense_Mutation_p.G60S|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G60S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G60S|ANKHD1_ENST00000394723.3_Missense_Mutation_p.G60S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcagcagcggcggcggcgg	0.756000													6	121					0	0	3.59834e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9074994	9074994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9074994G>A	ENST00000397910.4	-	3	12655	c.12452C>T	c.(12451-12453)cCc>cTc	p.P4151L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4153	Ser-rich.|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						TTCCACAGAGGGAGGGCTTGG	0.502000													37	56					0	0	0.000953801	0	0
RASL10B	91608	broad.mit.edu	37	17	34067441	34067441	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:34067441C>A	ENST00000268864.3	+	3	607	c.230C>A	c.(229-231)aCc>aAc	p.T77N		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	77	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGGCAGACACCTGCTGCAGG	0.597000													265	452					2.26023e-93	3.28107e-92	0.000781405	1	0
GPR98	84059	broad.mit.edu	37	5	90136565	90136565	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:90136565C>T	ENST00000405460.2	+	78	16878	c.16782C>T	c.(16780-16782)cgC>cgT	p.R5594R	GPR98_ENST00000425867.2_Silent_p.R1255R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5594					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCCTAAACGCTTCCAGATTG	0.448000													124	513					0	0	0.000781405	0	0
TNRC6A	27327	broad.mit.edu	37	16	24831624	24831624	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24831624A>C	ENST00000395799.3	+	22	5374	c.5245A>C	c.(5245-5247)Aat>Cat	p.N1749H	TNRC6A_ENST00000432286.2_Missense_Mutation_p.N227H|TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1700H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1749	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TACGTGGGATAATTCTCCCCT	0.522000													96	179					0	0	0.000781405	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103298	39103298	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:39103298G>A	ENST00000591517.1	-	9	646	c.618C>T	c.(616-618)atC>atT	p.I206I	MAP4K1_ENST00000589130.1_Silent_p.I202I|MAP4K1_ENST00000586296.1_Silent_p.I206I|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.I206I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	206	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGCCAGTTCGATGGCCGTGA	0.632000													216	376					0	0	0.000781405	0	0
POM121L12	285877	broad.mit.edu	37	7	53103641	53103641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:53103641G>A	ENST00000408890.4	+	1	293	c.277G>A	c.(277-279)Gtc>Atc	p.V93I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	93										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCAGCGGGTGGTCTCCGAGGG	0.697000													92	152					0	0	0.000781405	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632406	122632406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122632406C>T	ENST00000195173.4	-	16	2558	c.2255G>A	c.(2254-2256)gGc>gAc	p.G752D	SEMA5B_ENST00000451055.2_Missense_Mutation_p.G806D|SEMA5B_ENST00000357599.3_Missense_Mutation_p.G752D			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	752	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAGGAGTTGCCGTTCTCGCA	0.716000													111	186					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179606352	179606352	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179606352A>T	ENST00000589042.1	-	48	11832	c.11608T>A	c.(11608-11610)Ttt>Att	p.F3870I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F3699I|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.F3632I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F3507I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F3553I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCGTCAAAAACAAATTTG	0.408000													18	25					0	0	0.000958276	0	0
DHX29	54505	broad.mit.edu	37	5	54552319	54552319	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:54552319G>A	ENST00000251636.5	-	27	4255	c.4107C>T	c.(4105-4107)aaC>aaT	p.N1369N	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1369							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTCAGTTTCAGTTATTCTCTG	0.303000													16	22					0	0	0.000958276	0	0
HTR1D	3352	broad.mit.edu	37	1	23520574	23520574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:23520574C>T	ENST00000374619.1	-	1	648	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	HTR1D_ENST00000314113.3_Missense_Mutation_p.V47I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	47					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGTGTGATGACGGAAAGGACC	0.572000													170	304					0	0	0.000781405	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833960	101833960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:101833960G>A	ENST00000263468.8	+	6	2464	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E533K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	732							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTCAAAAAAAGAAGAAAGTAA	0.378000													4	19					0	0	0.000602214	0	0
RORB	6096	broad.mit.edu	37	9	77275628	77275628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:77275628G>A	ENST00000376896.2	+	5	1345	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	RORB_ENST00000396204.2_Missense_Mutation_p.E256K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	256	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CCACACCTATGAAGAAATTAA	0.448000													44	21					0	0	0.000437636	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996845	62996845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62996845G>A	ENST00000306494.6	-	1	279	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	94					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TTCCACTGGGGATGGACAAAG	0.537000													5	35					0	0	0.000602214	0	0
ZNF454	285676	broad.mit.edu	37	5	178391739	178391739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:178391739G>A	ENST00000320129.3	+	5	637	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	ZNF454_ENST00000519564.1_Missense_Mutation_p.E112K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GACAATAAAGGAAAGATTCAG	0.458000													45	28					0	0	0.000680045	0	0
DNAH8	1769	broad.mit.edu	37	6	38805727	38805727	+	Missense_Mutation	SNP	G	G	A	rs151175737	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:38805727G>A	ENST00000359357.3	+	31	3978	c.3724G>A	c.(3724-3726)Gat>Aat	p.D1242N	DNAH8_ENST00000449981.2_Missense_Mutation_p.D1459N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1242N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCCAGTTTCGATGATCTGTG	0.323000													5	21					0	0	3.59834e-05	0	0
ZNF174	7727	broad.mit.edu	37	16	3454643	3454643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3454643G>A	ENST00000268655.4	+	2	1205	c.620G>A	c.(619-621)gGg>gAg	p.G207E	ZNF174_ENST00000344823.5_Missense_Mutation_p.G207E|ZNF174_ENST00000571936.1_Missense_Mutation_p.G207E|ZNF174_ENST00000572544.1_Missense_Mutation_p.G207E|ZNF174_ENST00000575752.1_Missense_Mutation_p.G207E|LA16c-306E5.2_ENST00000575785.1_RNA	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	207					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AAATTGGCTGGGACAGGTAAA	0.517000													177	283					0	0	0.000781405	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													11	496					3.52763e-06	5.02444e-05	0.000566183	1	0
TLR9	54106	broad.mit.edu	37	3	52264925	52264925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52264925G>A	ENST00000494383.1	-	2	150	c.151C>T	c.(151-153)Cca>Tca	p.P51S	TWF2_ENST00000305533.5_Silent_p.L190L|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Silent_p.L190L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGAGCTGCTGGAGTGCCCGCT	0.612000													97	69					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61848032	61848032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61848032G>A	ENST00000280772.1	-	29	3604	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	ANK3_ENST00000373827.2_Missense_Mutation_p.S1132F|ANK3_ENST00000503366.1_Missense_Mutation_p.S1139F|ANK3_ENST00000355288.2_Missense_Mutation_p.S272F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1138					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTAATCCGGGAAACCACTGC	0.468000													17	51					0	0	0.000132079	0	0
ALPK3	57538	broad.mit.edu	37	15	85382953	85382953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:85382953C>T	ENST00000258888.5	+	5	1216	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	350	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAAGATGCCGCCATCTACCAG	0.632000													342	514					0	0	0.000781405	0	0
GRHL1	29841	broad.mit.edu	37	2	10101458	10101458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:10101458C>T	ENST00000324907.9	+	4	698	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	GRHL1_ENST00000405379.2_Missense_Mutation_p.R188W|GRHL1_ENST00000324883.5_Silent_p.I24I	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	188					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GGTTTTCGATCGGAATCTCAA	0.547000													188	321					0	0	0.000781405	0	0
MALAT1	378938	broad.mit.edu	37	11	65266878	65266878	+	RNA	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:65266878T>C	ENST00000534336.1	+	0	1646					NR_002819.2																						GGGCAATGCTTTTAGATTAAA	0.299000													48	50					0	0	0.000781405	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430981	37430981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:37430981G>A	ENST00000374660.1	+	7	1087	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E330K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E330K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	386						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATCGCATGGGAGAAAAAAGA	0.438000													60	135					0	0	0.000781405	0	0
COQ7	10229	broad.mit.edu	37	16	19083404	19083404	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:19083404G>A	ENST00000321998.5	+	2	294	c.228G>A	c.(226-228)cgG>cgA	p.R76R	COQ7_ENST00000568985.1_Silent_p.R76R|COQ7_ENST00000569127.1_Silent_p.R53R|COQ7_ENST00000544894.2_Silent_p.R38R	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	76	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TCCTGGGTCGGACCAGCGTCG	0.542000											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	260	434					0	0	0.000781405	0	0
ZNF182	7569	broad.mit.edu	37	X	47837015	47837015	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:47837015G>A	ENST00000396965.1	-	7	821	c.471C>T	c.(469-471)ccC>ccT	p.P157P	ZNF182_ENST00000305127.6_Silent_p.P157P|ZNF182_ENST00000376943.3_Silent_p.P138P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P138P(1)|p.P157P(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CGTGTTTATCGGGTCTTTGTA	0.328000													62	30					0	0	0.000781405	0	0
ATP2B4	493	broad.mit.edu	37	1	203668664	203668664	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:203668664T>C	ENST00000357681.5	+	4	1591	c.468T>C	c.(466-468)ctT>ctC	p.L156L	ATP2B4_ENST00000341360.2_Silent_p.L156L|ATP2B4_ENST00000367218.3_Silent_p.L156L|ATP2B4_ENST00000391954.2_Silent_p.L156L|ATP2B4_ENST00000367219.3_Silent_p.L156L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	156					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGCCATCCTTTTCTCAGTGA	0.498000													190	135					0	0	0.000781405	0	0
TMEM234	56063	broad.mit.edu	37	1	32682472	32682472	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:32682472C>T	ENST00000309777.6	-	5	407	c.405G>A	c.(403-405)ggG>ggA	p.G135G	TMEM234_ENST00000545122.1_Intron|TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000344461.3_Intron	NM_019118.3	NP_061991.3	Q8WY98	TM234_HUMAN	transmembrane protein 234	142						integral to membrane				kidney(2)|lung(3)	5						TAGACTGTTGCCCCTGGGTCT	0.562000													157	238					0	0	0.000781405	0	0
ANGPT1	284	broad.mit.edu	37	8	108276487	108276487	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:108276487T>C	ENST00000520734.1	-	7	983	c.698A>G	c.(697-699)gAc>gGc	p.D233G	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.D232G			Q15389	ANGP1_HUMAN	angiopoietin 1	433					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CATACAGTTGTCATTATCAGC	0.433000													4	10					0	0	0.00024832	0	0
OR5K4	403278	broad.mit.edu	37	3	98073098	98073098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:98073098C>T	ENST00000354924.2	+	1	401	c.401C>T	c.(400-402)aCc>aTc	p.T134I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CAGTACCACACCATGATGTCC	0.473000													37	66					0	0	0.000692331	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580751	11580751	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:11580751C>T	ENST00000294484.6	+	10	2346	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	PTCHD2_ENST00000389575.3_Silent_p.F736F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	736					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGGCTGTTCGTCTCCATCC	0.657000													165	297					0	0	0.000781405	0	0
BRSK1	84446	broad.mit.edu	37	19	55816724	55816724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:55816724G>A	ENST00000309383.1	+	15	2030	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	BRSK1_ENST00000326848.7_Missense_Mutation_p.E280K|BRSK1_ENST00000590333.1_Missense_Mutation_p.E601K|BRSK1_ENST00000588584.1_3'UTR	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	585					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTTGACGCCAGAGTCCTCCCC	0.612000													147	268					0	0	0.000781405	0	0
SDK1	221935	broad.mit.edu	37	7	4259903	4259903	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:4259903G>A	ENST00000404826.2	+	39	5840		c.e39+1		SDK1_ENST00000389531.3_Splice_Site	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1						cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCGAGGGTAAGTGGAAC	0.562000													166	325					0	0	0.000781405	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111648338	111648338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:111648338G>A	ENST00000369680.4	-	6	550	c.302C>T	c.(301-303)cCa>cTa	p.P101L	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.P30L|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.P144L|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.P144L	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	101					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTCCTGAGTTGGTGTGTCCTT	0.488000													9	21					0	0	0.000673444	0	0
PRSS3	5646	broad.mit.edu	37	9	33797945	33797945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:33797945G>A	ENST00000361005.5	+	3	490	c.490G>A	c.(490-492)Gac>Aac	p.D164N	PRSS3_ENST00000342836.4_Missense_Mutation_p.D121N|PRSS3_ENST00000379405.3_Missense_Mutation_p.D107N|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.D100N	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	164	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCTGGACAATGACATCATGCT	0.552000													68	134					0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7528443	7528443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:7528443C>T	ENST00000313599.3	-	10	2596	c.2539G>A	c.(2539-2541)Gga>Aga	p.G847R	CD163L1_ENST00000396630.1_Missense_Mutation_p.G847R|CD163L1_ENST00000416109.2_Missense_Mutation_p.G857R|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	847	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAGTGATCTCCCACAGAAAGA	0.458000													83	90					0	0	0.000781405	0	0
LACTB2	51110	broad.mit.edu	37	8	71550843	71550843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:71550843C>T	ENST00000276590.4	-	6	799	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	LACTB2_ENST00000517601.1_5'UTR|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.E255K|RP11-382J12.1_ENST00000518553.1_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	255							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTAGCCATTTCATGTAAATTC	0.254000													39	62					0	0	0.000228196	0	0
POU6F2	11281	broad.mit.edu	37	7	39379267	39379267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:39379267C>T	ENST00000518318.2	+	5	580	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q172*|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Nonsense_Mutation_p.Q180*			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	180	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTCCCAGCTCcagcagctcca	0.597000													68	118					0	0	0.000781405	0	0
SYNPO	11346	broad.mit.edu	37	5	150029654	150029654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150029654C>T	ENST00000394243.1	+	3	2923	c.2549C>T	c.(2548-2550)gCt>gTt	p.A850V	SYNPO_ENST00000522122.1_Missense_Mutation_p.A850V|SYNPO_ENST00000307662.4_Missense_Mutation_p.A606V|SYNPO_ENST00000519664.1_Missense_Mutation_p.A606V	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	850	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAGGGGGCTCTCCCTCCA	0.687000													370	190					0	0	0.000781405	0	0
ARSH	347527	broad.mit.edu	37	X	2945414	2945414	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:2945414C>A	ENST00000381130.2	+	7	1097	c.1097C>A	c.(1096-1098)cCg>cAg	p.P366Q		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	366						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTCCGGTGGCCGTCAGTCTTG	0.507000													5	101					0.000602214	0.00835775	0.000602214	1	0
XYLT1	64131	broad.mit.edu	37	16	17353103	17353103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:17353103G>A	ENST00000261381.6	-	3	739	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	219					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTCCCCGGGAGGCAGCACC	0.582000													131	285					0	0	0.000781405	0	0
OR56A1	120796	broad.mit.edu	37	11	6048713	6048713	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6048713G>A	ENST00000316650.5	-	1	258	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCCAGCAGGGAGAGGAGGC	0.592000													18	45					0	0	0.000175454	0	0
LMTK2	22853	broad.mit.edu	37	7	97821334	97821334	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:97821334C>T	ENST00000297293.5	+	11	1850	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	519					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATCCTGGGCCCGGAAAGCAAG	0.542000													157	291					0	0	0.000781405	0	0
ZNF229	7772	broad.mit.edu	37	19	44933888	44933888	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:44933888C>T	ENST00000291187.4	-	6	1372	c.1050G>A	c.(1048-1050)aaG>aaA	p.K350K	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.K356K	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACCTGAACCCCTTTCCACAGA	0.512000													44	95					0	0	0.000509022	0	0
CDK2	1017	broad.mit.edu	37	12	56364889	56364889	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56364889G>T	ENST00000266970.4	+	6	890	c.650G>T	c.(649-651)cGg>cTg	p.R217L	CDK2_ENST00000440311.2_Missense_Mutation_p.R157L|CDK2_ENST00000553376.1_Missense_Mutation_p.R265L|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000354056.4_Missense_Mutation_p.R183L	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	217	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding	p.R217L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CGGATCTTTCGGACTCTGGGG	0.522000													11	1465					2.17888e-05	0.000309121	0.000442599	1	0
LMO7	4008	broad.mit.edu	37	13	76423325	76423325	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:76423325G>T	ENST00000357063.3	+	28	5677	c.4417G>T	c.(4417-4419)Gaa>Taa	p.E1473*	LMO7_ENST00000321797.8_Nonsense_Mutation_p.E1188*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E1139*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.E1473*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.E1065*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.E1188*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1473						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATCCTTCAGGAAATGAGGAA	0.463000													18	52					6.94344e-10	9.93313e-09	0.00074312	1	0
FGFR3	2261	broad.mit.edu	37	4	1808928	1808928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:1808928C>T	ENST00000340107.4	+	18	2622	c.2366C>T	c.(2365-2367)tCc>tTc	p.S789F	FGFR3_ENST00000260795.2_Missense_Mutation_p.S787F|FGFR3_ENST00000481110.2_Silent_p.L764L|FGFR3_ENST00000440486.2_Missense_Mutation_p.S787F|FGFR3_ENST00000352904.1_Missense_Mutation_p.S675F|FGFR3_ENST00000412135.2_Missense_Mutation_p.S675F	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	787					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGGGACGACTCCGTGTTTGCC	0.692000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				34	113					0	0	0.000191422	0	0
PI15	51050	broad.mit.edu	37	8	75756225	75756225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:75756225G>A	ENST00000260113.2	+	3	462	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.E95K|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	95						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGTTTGGGATGAAAATCTTGC	0.403000													37	92					0	0	0.000191422	0	0
AMBN	258	broad.mit.edu	37	4	71471906	71471906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71471906G>A	ENST00000322937.6	+	13	906	c.803G>A	c.(802-804)gGg>gAg	p.G268E	AMBN_ENST00000449493.2_Missense_Mutation_p.G253E	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	268					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTCCAGGGCGGGAGAGAAGAC	0.493000													23	18					0	0	0.00047179	0	0
AP1G2	8906	broad.mit.edu	37	14	24033353	24033353	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24033353T>C	ENST00000308724.5	-	10	1748	c.993A>G	c.(991-993)acA>acG	p.T331T	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Silent_p.T331T	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	331					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GAAGCAGTGATGTCAGGGCTA	0.567000													103	145					0	0	0.000781405	0	0
PTCH2	8643	broad.mit.edu	37	1	45295599	45295599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:45295599G>A	ENST00000447098.2	-	7	928	c.917C>T	c.(916-918)cCc>cTc	p.P306L	PTCH2_ENST00000372192.3_Missense_Mutation_p.P306L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	306					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTCTCCTTGGGGGTCTCTGGC	0.582000									Basal Cell Nevus syndrome				155	226					0	0	0.000781405	0	0
TRIM21	6737	broad.mit.edu	37	11	4407465	4407465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4407465C>T	ENST00000254436.7	-	6	893	c.781G>A	c.(781-783)Gac>Aac	p.D261N	TRIM21_ENST00000543625.1_Missense_Mutation_p.D261N	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	261					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ATATCCAGGTCCTTCAGGTTC	0.507000													11	33					0	0	0.000673444	0	0
RPS2	6187	broad.mit.edu	37	16	2012222	2012222	+	Silent	SNP	G	G	A	rs145826103		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2012222G>A	ENST00000343262.4	-	7	815	c.759C>T	c.(757-759)ccC>ccT	p.P253P	RPS2_ENST00000530225.1_3'UTR|RPS2_ENST00000526522.1_Silent_p.P195P|RPS2_ENST00000529806.1_3'UTR	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	253					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	p.P253P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCCAGAGGTCGGGGGTCAGGT	0.547000													192	328					0	0	0.000781405	0	0
TNIP2	79155	broad.mit.edu	37	4	2747233	2747233	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:2747233G>A	ENST00000510267.1	-	3	703	c.276C>T	c.(274-276)gtC>gtT	p.V92V	TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Silent_p.V199V|TNIP2_ENST00000315423.7_Silent_p.V199V	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	199						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAACACTCTGGACAGAGGTGT	0.473000													208	153					0	0	0.000781405	0	0
TYSND1	219743	broad.mit.edu	37	10	71902467	71902467	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:71902467G>A	ENST00000287078.6	-	3	1439	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	480	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GTCCCCCACTGGAGCCGCTGT	0.632000													84	110					0	0	0.000781405	0	0
CHL1	10752	broad.mit.edu	37	3	447275	447275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:447275G>A	ENST00000256509.2	+	28	4198	c.3556G>A	c.(3556-3558)Gga>Aga	p.G1186R	CHL1_ENST00000397491.2_Missense_Mutation_p.G1170R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1170					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATACGGAGAGGGAGACCATGG	0.463000													12	34					0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179497112	179497112	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179497112G>A	ENST00000589042.1	-	236	43733	c.43509C>T	c.(43507-43509)ctC>ctT	p.L14503L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L5630L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L11935L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.L5563L|TTN_ENST00000460472.2_Silent_p.L5438L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L12862L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12862	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACATCTTTGAGAGGGGTGA	0.358000													3	4					0	0	6.4e-05	0	0
C6orf222	389384	broad.mit.edu	37	6	36298017	36298017	+	Missense_Mutation	SNP	C	C	T	rs149916620		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:36298017C>T	ENST00000437635.2	-	2	628	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	151										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCTTCTTGTCGTGGTGGGCT	0.622000													84	152					0	0	0.000781405	0	0
IRAK2	3656	broad.mit.edu	37	3	10280488	10280488	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:10280488C>T	ENST00000256458.4	+	12	1620	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	510					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGACGTTGCTCCCTTGGAGTG	0.557000													398	603					0	0	0.000781405	0	0
COG4	25839	broad.mit.edu	37	16	70543248	70543248	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:70543248G>A	ENST00000323786.5	-	7	909	c.888C>T	c.(886-888)acC>acT	p.T296T	COG4_ENST00000393612.4_Silent_p.T292T	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	292					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GCCCATAATAGGTCTCCACTA	0.463000													135	178					0	0	0.000781405	0	0
WNT3A	89780	broad.mit.edu	37	1	228210433	228210433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:228210433C>T	ENST00000284523.1	+	2	215	c.137C>T	c.(136-138)cCg>cTg	p.P46L	WNT3A_ENST00000366753.2_Missense_Mutation_p.P46L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	46					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCAGCATCCCGGGCCTGGTC	0.642000													166	368					0	0	0.000781405	0	0
KDM3B	51780	broad.mit.edu	37	5	137733895	137733895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:137733895C>T	ENST00000314358.5	+	10	3060	c.2860C>T	c.(2860-2862)Cgt>Tgt	p.R954C	KDM3B_ENST00000542866.1_5'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.R610C	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	954					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGGGTACTCCGTGTGGAGGG	0.498000													80	41					0	0	0.000781405	0	0
UTP14A	10813	broad.mit.edu	37	X	129053189	129053189	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:129053189C>T	ENST00000394422.3	+	7	604	c.576C>T	c.(574-576)ctC>ctT	p.L192L	UTP14A_ENST00000371042.3_Silent_p.L24L|UTP14A_ENST00000425117.2_Silent_p.L140L|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.L138L	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	192					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCAACCTCCTCCATAAGAACA	0.478000													246	64					0	0	0.000781405	0	0
PUS1	80324	broad.mit.edu	37	12	132425867	132425867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:132425867C>T	ENST00000542167.2	+	4	1169	c.416C>T	c.(415-417)tCc>tTc	p.S139F	PUS1_ENST00000443358.2_Missense_Mutation_p.S164F|PUS1_ENST00000440818.2_Missense_Mutation_p.S164F|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Missense_Mutation_p.S192F			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	192						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GGGTTTAACTCCAAGAACAGA	0.597000													141	208					0	0	0.000781405	0	0
CACNA1S	779	broad.mit.edu	37	1	201030530	201030530	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:201030530C>T	ENST00000362061.3	-	25	3346	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E	CACNA1S_ENST00000367338.3_Silent_p.E1040E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1040	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGCCATCTCCACACGGT	0.527000													162	389					0	0	0.000781405	0	0
ABCA7	10347	broad.mit.edu	37	19	1047168	1047168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:1047168C>T	ENST00000263094.6	+	15	2089	c.1858C>T	c.(1858-1860)Ctc>Ttc	p.L620F	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.L620F|ABCA7_ENST00000435683.2_Missense_Mutation_p.L482F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	620					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGACATCCTCCCCTACAG	0.677000													65	104					0	0	0.000781405	0	0
SULT1E1	6783	broad.mit.edu	37	4	70719964	70719964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:70719964G>A	ENST00000226444.3	-	4	452	c.340C>T	c.(340-342)Cct>Tct	p.P114S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	114					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AATGAGGCAGGAAGAAGTTCA	0.348000													35	124					0	0	0.000228196	0	0
AGAP5	729092	broad.mit.edu	37	10	75457492	75457492	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:75457492A>G	ENST00000443782.2	-	1	147	c.22T>C	c.(22-24)Tgt>Cgt	p.C8R	AGAP5_ENST00000374094.4_Missense_Mutation_p.C8R|RP11-464F9.1_ENST00000399449.3_RNA			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	8				C -> R (in Ref. 2; BC127746).	regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.C8R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GGGTGCACACAACAGGTCAGT	0.597000													6	590					0	0	3.59834e-05	0	0
TAF4B	6875	broad.mit.edu	37	18	23862009	23862009	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:23862009G>A	ENST00000269142.5	+	6	1955	c.957G>A	c.(955-957)ctG>ctA	p.L319L	TAF4B_ENST00000578121.1_Silent_p.L319L|TAF4B_ENST00000400466.2_Silent_p.L319L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	319	TAFH.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AGCCTCACCTGGTTCCTTTTC	0.343000													37	65					0	0	0.000191422	0	0
NRN1	51299	broad.mit.edu	37	6	5999216	5999216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:5999216G>A	ENST00000244766.2	-	3	639	c.422C>T	c.(421-423)tCc>tTc	p.S141F	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	141						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CGCTCAGAAGGAAAGCCAGGT	0.647000													61	99					0	0	0.000781405	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89196846	89196846	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:89196846C>T	ENST00000390244.2	+	0	99																											GCTTCCTCCTCCTTTGGATCT	0.458000													7	16					0	0	0.000157383	0	0
SLC7A10	56301	broad.mit.edu	37	19	33706762	33706762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:33706762G>A	ENST00000253188.3	-	2	415	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	90					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATAGCAGAGGGAGCCCAGAGC	0.667000													32	72					0	0	0.000339439	0	0
C9orf3	84909	broad.mit.edu	37	9	97823036	97823036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:97823036C>T	ENST00000375315.2	+	13	2176	c.2176C>T	c.(2176-2178)Ccc>Tcc	p.P726S	C9orf3_ENST00000297979.5_Missense_Mutation_p.P627S|C9orf3_ENST00000425634.2_Missense_Mutation_p.P88S|C9orf3_ENST00000433691.2_Missense_Mutation_p.P67S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	726					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GACTCTGAGCCCCCGAACTCT	0.517000													120	106					0	0	0.000781405	0	0
RNF17	56163	broad.mit.edu	37	13	25418068	25418068	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:25418068G>A	ENST00000255324.5	+	20	2842	c.2790G>A	c.(2788-2790)aaG>aaA	p.K930K	RNF17_ENST00000381921.1_Silent_p.K930K|RNF17_ENST00000339524.3_5'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	930					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTCCTGAGAAGATTTATGTTC	0.269000													12	37					0	0	0.00010058	0	0
LINC00471	151477	broad.mit.edu	37	2	232378304	232378304	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:232378304G>A	ENST00000313064.2	-	0	297					NR_024079.1																						CCTCCTTTGGGGAAAGACTTA	0.403000													286	392					0	0	0.000781405	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601355	46601355	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:46601355C>T	ENST00000398637.5	-	7	1132	c.438G>A	c.(436-438)ggG>ggA	p.G146G	SLC38A1_ENST00000439706.1_Silent_p.G146G|SLC38A1_ENST00000546893.1_Silent_p.G146G|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Silent_p.G146G|SLC38A1_ENST00000549049.1_Silent_p.G146G	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	146					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTACGAACTTCCCTGTGGTGC	0.408000													23	34					0	0	0.000878237	0	0
TMX4	56255	broad.mit.edu	37	20	7963024	7963024	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:7963024G>A	ENST00000246024.2	-	8	1139	c.924C>T	c.(922-924)acC>acT	p.T308T		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	308	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CTTCCTCCCGGGTCACACCGT	0.577000													18	38					0	0	0.000132079	0	0
SPATA13	221178	broad.mit.edu	37	13	24876758	24876758	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:24876758C>T	ENST00000424834.2	+	15	4154	c.3681C>T	c.(3679-3681)gcC>gcT	p.A1227A	SPATA13_ENST00000399949.2_Silent_p.A524A|SPATA13_ENST00000382095.4_Silent_p.A602A|SPATA13_ENST00000382108.3_Silent_p.A1227A|SPATA13_ENST00000409126.1_Silent_p.A462A|SPATA13_ENST00000343003.6_Silent_p.A546A			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	602					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCCTGTGGCCCCACCGCACC	0.587000													251	455					0	0	0.000781405	0	0
FREM2	341640	broad.mit.edu	37	13	39452977	39452977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:39452977C>T	ENST00000280481.7	+	23	9085	c.8869C>T	c.(8869-8871)Cag>Tag	p.Q2957*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2957					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGACAAAGCTCAGCCAGAGAC	0.443000													18	31					0	0	0.000132079	0	0
CASR	846	broad.mit.edu	37	3	122002901	122002901	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122002901C>T	ENST00000498619.1	+	7	2568	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	CASR_ENST00000296154.5_Silent_p.N700N|CASR_ENST00000490131.1_Silent_p.N700N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	700					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGAAAACCAACCGTGTCCTCC	0.602000													191	353					0	0	0.000781405	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411352	210411352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:210411352C>A	ENST00000367012.3	+	2	277	c.47C>A	c.(46-48)tCg>tAg	p.S16*	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	16							protein binding	p.S16L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CCCATTGTCTCGGAAGGAGCT	0.488000													15	1391					0.000673444	0.00928291	0.000673444	1	0
OR4D1	26689	broad.mit.edu	37	17	56232598	56232598	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:56232598C>T	ENST00000268912.5	+	1	105	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTCCTGTTCCTTCTGTTCC	0.468000													567	892					0	0	0.000781405	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:155887399T>G	ENST00000368320.3	-	11	1356	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P			Q7Z7F0	K0907_HUMAN	KIAA0907	444	Pro-rich.							p.Q444P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562000													13	141					0	0	0.000958276	0	0
DNAH8	1769	broad.mit.edu	37	6	38885165	38885165	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:38885165T>G	ENST00000359357.3	+	67	9894	c.9640T>G	c.(9640-9642)Tgg>Ggg	p.W3214G	DNAH8_ENST00000449981.2_Missense_Mutation_p.W3431G|DNAH8_ENST00000441566.1_Missense_Mutation_p.W3178G					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAGCCATCATGGGGAGAGTC	0.388000													14	27					0	0	0.000422831	0	0
NBAS	51594	broad.mit.edu	37	2	15307436	15307436	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:15307436G>A	ENST00000281513.5	-	52	6877	c.6852C>T	c.(6850-6852)tcC>tcT	p.S2284S	NBAS_ENST00000441750.1_Silent_p.S2164S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2284										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGTCACAATTGGAATCATTCA	0.527000													37	49					0	0	0.000437636	0	0
DYSF	8291	broad.mit.edu	37	2	71886052	71886052	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:71886052C>T	ENST00000258104.3	+	43	4960	c.4683C>T	c.(4681-4683)ccC>ccT	p.P1561P	DYSF_ENST00000409762.1_Silent_p.P1578P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.P1582P|DYSF_ENST00000409744.1_Silent_p.P1569P|DYSF_ENST00000394120.2_Silent_p.P1562P|DYSF_ENST00000409366.1_Silent_p.P1583P|DYSF_ENST00000409651.1_Silent_p.P1593P|DYSF_ENST00000413539.2_Silent_p.P1592P|DYSF_ENST00000410020.3_Silent_p.P1600P|DYSF_ENST00000409582.3_Silent_p.P1599P|DYSF_ENST00000410041.1_Silent_p.P1579P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1561						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGCCATCCCCATGCCCCCAA	0.517000													90	173					0	0	0.000781405	0	0
PPFIA2	8499	broad.mit.edu	37	12	81733043	81733043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:81733043G>A	ENST00000550584.2	-	20	2759	c.2464C>T	c.(2464-2466)Cac>Tac	p.H822Y	PPFIA2_ENST00000407050.4_Missense_Mutation_p.H748Y|PPFIA2_ENST00000552948.1_Missense_Mutation_p.H822Y|PPFIA2_ENST00000443686.3_Missense_Mutation_p.H723Y|PPFIA2_ENST00000548586.1_Missense_Mutation_p.H822Y|PPFIA2_ENST00000550359.2_Missense_Mutation_p.H669Y|PPFIA2_ENST00000549325.1_Missense_Mutation_p.H804Y|PPFIA2_ENST00000541570.2_Missense_Mutation_p.H389Y|PPFIA2_ENST00000541017.1_Missense_Mutation_p.H39Y|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Missense_Mutation_p.H822Y|PPFIA2_ENST00000333447.7_Missense_Mutation_p.H804Y	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	748										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGGGCTTTGTGAAGAGAGTCT	0.443000													6	15					0	0	8.12818e-05	0	0
CLUH	23277	broad.mit.edu	37	17	2601309	2601309	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:2601309G>A	ENST00000570628.1	-	10	1833	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	CLUH_ENST00000575014.1_Silent_p.F508F|CLUH_ENST00000435359.1_Silent_p.F576F|CLUH_ENST00000538975.1_Silent_p.F576F					clustered mitochondria (cluA/CLU1) homolog																		GCACGGGCAGGAAGTTGAGGT	0.692000													51	36					0	0	0.000781405	0	0
CPXM1	56265	broad.mit.edu	37	20	2778928	2778928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2778928C>T	ENST00000380605.2	-	4	524	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	154	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.E154*(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCGCCGTCCTCCAGGCCTGAC	0.632000													190	248					0	0	0.000781405	0	0
MAP4K4	9448	broad.mit.edu	37	2	102407207	102407207	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:102407207T>A	ENST00000413150.2	+	3	204	c.149T>A	c.(148-150)tTg>tAg	p.L50*	MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.L50*|MAP4K4_ENST00000456652.1_Nonsense_Mutation_p.L50*|MAP4K4_ENST00000347699.4_Nonsense_Mutation_p.L50*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.L50*|MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.L50*|MAP4K4_ENST00000302217.5_Nonsense_Mutation_p.L50*	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	50	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACGGGTCAGTTGGCAGCCATC	0.363000													4	5					0	0	0.00024832	0	0
AHSA2	130872	broad.mit.edu	37	2	61413791	61413791	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:61413791T>A	ENST00000394457.2	+	6	2027	c.284T>A	c.(283-285)cTa>cAa	p.L95Q	AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Missense_Mutation_p.L104Q|AHSA2_ENST00000357022.2_Missense_Mutation_p.L95Q	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	257					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			GTGCCTACTCTAGGGCAAACA	0.338000													87	145					0	0	0.000781405	0	0
XKR9	389668	broad.mit.edu	37	8	71619189	71619189	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:71619189G>A	ENST00000408926.3	+	4	828	c.294G>A	c.(292-294)agG>agA	p.R98R	XKR9_ENST00000520030.1_Silent_p.R98R|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	98						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CCTTAAAAAGGGGTTACCATG	0.289000													7	18					0	0	8.12818e-05	0	0
PRKAG3	53632	broad.mit.edu	37	2	219696074	219696074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219696074C>T	ENST00000529249.1	-	2	373	c.58G>A	c.(58-60)Ggt>Agt	p.G20S	PRKAG3_ENST00000439262.2_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.G20S|PRKAG3_ENST00000545803.1_5'UTR			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	20					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCAGAACCCCCAAGGCTG	0.587000													90	164					0	0	0.000781405	0	0
DARC	2532	broad.mit.edu	37	1	159175422	159175422	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:159175422T>G	ENST00000537147.1	+	3	1036	c.193T>G	c.(193-195)Ttc>Gtc	p.F65V	DARC_ENST00000368121.2_Missense_Mutation_p.F67V|DARC_ENST00000368122.2_Missense_Mutation_p.F65V			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	65					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ACTGCCCTTCTTCATCCTCAC	0.562000													30	711					0	0	0.000184323	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696555	150696555	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150696555G>A	ENST00000335244.4	-	10	1404	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	SLC36A2_ENST00000450886.1_Silent_p.L149L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	425					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCTCCAGGAGCGGTGGGA	0.647000													51	30					0	0	0.000781405	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													14	427					9.31168e-06	0.000132395	0.000151284	1	0
SCNN1A	6337	broad.mit.edu	37	12	6471223	6471223	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:6471223T>C	ENST00000358945.3	-	3	1309	c.869A>G	c.(868-870)aAc>aGc	p.N290S	SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000543768.1_Missense_Mutation_p.N313S|SCNN1A_ENST00000540037.1_Intron|SCNN1A_ENST00000228916.2_Missense_Mutation_p.N290S|SCNN1A_ENST00000396966.2_Missense_Mutation_p.N290S|SCNN1A_ENST00000360168.3_Missense_Mutation_p.N349S			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	290					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCACGCCTGGTTGCAGGAGAC	0.632000													331	309					0	0	0.000781405	0	0
EDAR	10913	broad.mit.edu	37	2	109545771	109545771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:109545771G>A	ENST00000409271.1	-	5	682	c.239C>T	c.(238-240)tCc>tTc	p.S80F	EDAR_ENST00000258443.2_Missense_Mutation_p.S80F|EDAR_ENST00000376651.1_Missense_Mutation_p.S80F			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	80					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCCTCCTTTGGAAAACTTCTC	0.592000													143	257					0	0	0.000781405	0	0
MPP2	4355	broad.mit.edu	37	17	41955297	41955297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:41955297C>T	ENST00000269095.4	-	13	1841	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R	MPP2_ENST00000536246.1_Missense_Mutation_p.G502R|MPP2_ENST00000518766.1_Missense_Mutation_p.G558R|MPP2_ENST00000520305.1_Missense_Mutation_p.G374R|MPP2_ENST00000377184.3_Missense_Mutation_p.G530R|MPP2_ENST00000523501.1_Missense_Mutation_p.G502R|MPP2_ENST00000461854.1_Missense_Mutation_p.G537R	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	537	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AAGTAGTGCCCGTAGCCCCGC	0.627000													143	273					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9074523	9074523	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9074523C>A	ENST00000397910.4	-	3	13126	c.12923G>T	c.(12922-12924)gGa>gTa	p.G4308V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4310	Ser-rich.|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						CTCCTGAAGTCCCTGGTTCAC	0.512000													15	21					6.31663e-08	9.01263e-07	0.000308642	1	0
ITLN2	142683	broad.mit.edu	37	1	160920967	160920967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160920967G>A	ENST00000368029.3	-	4	364	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	103	Fibrinogen C-terminal.		R -> H (in dbSNP:rs6680969).		signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTTCCCACGCATGTCATTC	0.587000													72	232					0	0	0.000781405	0	0
ZNF536	9745	broad.mit.edu	37	19	30935622	30935622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:30935622C>T	ENST00000355537.3	+	2	1300	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTTCAAGGAGCCCTGGTTCCT	0.597000													300	527					0	0	0.000781405	0	0
ANXA11	311	broad.mit.edu	37	10	81918919	81918919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:81918919C>T	ENST00000438331.1	-	14	1695	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	ANXA11_ENST00000360615.4_Missense_Mutation_p.D405N|ANXA11_ENST00000422982.3_Missense_Mutation_p.D405N|ANXA11_ENST00000372231.3_Missense_Mutation_p.D405N|ANXA11_ENST00000265447.4_Missense_Mutation_p.D405N|ANXA11_ENST00000535999.1_Missense_Mutation_p.D405N|ANXA11_ENST00000537102.1_Missense_Mutation_p.D372N	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	405					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCTCAATGTCCCGGCCTGTC	0.537000													196	324					0	0	0.000781405	0	0
MAP1S	55201	broad.mit.edu	37	19	17836861	17836861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17836861C>T	ENST00000324096.4	+	5	819	c.668C>T	c.(667-669)cCc>cTc	p.P223L	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.P197L	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	223	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCACCGTCCCCCTTCGAGCTG	0.692000													103	201					0	0	0.000781405	0	0
HDAC9	9734	broad.mit.edu	37	7	18767289	18767289	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:18767289C>T	ENST00000406451.3	+	13	1959	c.1809C>T	c.(1807-1809)caC>caT	p.H603H	HDAC9_ENST00000432645.2_Silent_p.H603H|HDAC9_ENST00000401921.1_Silent_p.H562H|HDAC9_ENST00000441542.2_Silent_p.H606H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	603					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TAGAGAAACACCGTCTCGTCT	0.587000													20	26					0	0	0.000132079	0	0
STRN	6801	broad.mit.edu	37	2	37105106	37105106	+	Silent	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:37105106A>T	ENST00000263918.4	-	10	1259	c.1251T>A	c.(1249-1251)ctT>ctA	p.L417L	STRN_ENST00000379213.2_Silent_p.L368L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	417					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GTTCACTTTCAAGGGCTTCAT	0.413000													224	387					0	0	0.000781405	0	0
DCTN1	1639	broad.mit.edu	37	2	74598296	74598296	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:74598296T>C	ENST00000361874.3	-	9	970	c.653A>G	c.(652-654)gAg>gGg	p.E218G	DCTN1_ENST00000409868.1_Missense_Mutation_p.E201G|DCTN1_ENST00000409438.1_Missense_Mutation_p.E84G|DCTN1_ENST00000409240.1_Missense_Mutation_p.E181G|DCTN1_ENST00000394003.3_Missense_Mutation_p.E211G|DCTN1_ENST00000407639.2_Missense_Mutation_p.E84G|DCTN1_ENST00000409567.3_Missense_Mutation_p.E198G	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	218					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTTAGTCCCTCCTCCTCCTG	0.547000													8	1534					0	0	0.00024832	0	0
COLEC12	81035	broad.mit.edu	37	18	346625	346625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:346625C>T	ENST00000400256.3	-	5	1204	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	333					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AAGCGTTCCTCCAGTTGGTTG	0.468000													94	110					0	0	0.000781405	0	0
KAZN	23254	broad.mit.edu	37	1	15386692	15386692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:15386692C>T	ENST00000376030.2	+	6	1235	c.941C>T	c.(940-942)tCc>tTc	p.S314F	KAZN_ENST00000400798.2_Missense_Mutation_p.S220F|KAZN_ENST00000361144.5_Missense_Mutation_p.S308F|KAZN_ENST00000503743.1_Missense_Mutation_p.S314F|KAZN_ENST00000422387.2_Missense_Mutation_p.S314F|KAZN_ENST00000400797.3_Missense_Mutation_p.S220F	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	314	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCCTGCCACTCCCGGCAGCCC	0.647000													304	434					0	0	0.000781405	0	0
DNAH17	8632	broad.mit.edu	37	17	76522770	76522770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:76522770G>A	ENST00000389840.5	-	24	3798	c.3674C>T	c.(3673-3675)tCc>tTc	p.S1225F	DNAH17_ENST00000585328.1_Missense_Mutation_p.S1222F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCGCTGAAGGAGAACGGGGC	0.557000													89	222					0	0	0.000781405	0	0
INSRR	3645	broad.mit.edu	37	1	156815088	156815088	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156815088C>T	ENST00000368195.3	-	12	2613	c.2216_splice	c.e12-1	p.R739_splice	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	739					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTGAGTCCCTGGGGAGAG	0.687000													170	138					0	0	0.000781405	0	0
LIMCH1	22998	broad.mit.edu	37	4	41682052	41682052	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:41682052G>A	ENST00000313860.7	+	19	2451	c.2397G>A	c.(2395-2397)ctG>ctA	p.L799L	LIMCH1_ENST00000508501.1_Silent_p.L798L|LIMCH1_ENST00000512632.1_Silent_p.L722L|LIMCH1_ENST00000513024.1_Silent_p.L652L|LIMCH1_ENST00000512820.1_Silent_p.L811L|LIMCH1_ENST00000512946.1_Silent_p.L799L|LIMCH1_ENST00000381753.4_Silent_p.L632L|LIMCH1_ENST00000514096.1_Silent_p.L639L|LIMCH1_ENST00000503057.1_Silent_p.L1183L|LIMCH1_ENST00000396595.3_Silent_p.L644L|LIMCH1_ENST00000509277.1_Silent_p.L632L|LIMCH1_ENST00000511496.1_Silent_p.L639L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	799	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGGACAAGCTGAAAGAAGAGT	0.448000													9	12					0	0	0.000442599	0	0
GOLGA8K	653125	broad.mit.edu	37	15	32693645	32693645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:32693645C>T	ENST00000512626.2	-	2	80	c.80G>A	c.(79-81)aGa>aAa	p.R27K	RP13-395E19.3_ENST00000562108.1_RNA					golgin A8 family, member K																		TGCTGGAACTCTAGGGCTGTT	0.478000													18	13					0	0	0.000132079	0	0
CCDC108	255101	broad.mit.edu	37	2	219878241	219878241	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219878241C>T	ENST00000341552.5	-	23	3929	c.3846_splice	c.e23+1	p.L1282_splice	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Splice_Site_p.L1282_splice|CCDC108_ENST00000441968.1_Splice_Site_p.L1282_splice	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1282						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCCTCACCAGGATCTCCC	0.597000													54	86					0	0	0.000781405	0	0
VPS13B	157680	broad.mit.edu	37	8	100493950	100493950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:100493950C>T	ENST00000395996.1	+	25	3901	c.3790C>T	c.(3790-3792)Cca>Tca	p.P1264S	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1264S|VPS13B_ENST00000358544.2_Missense_Mutation_p.P1264S			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1264					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCTACTTCTCCAGTTAGAAG	0.468000													16	31					0	0	0.000308642	0	0
NWD1	284434	broad.mit.edu	37	19	16902221	16902221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:16902221G>A	ENST00000524140.2	+	14	3419	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N	NWD1_ENST00000523826.1_Missense_Mutation_p.D795N|NWD1_ENST00000379808.3_Missense_Mutation_p.D1001N|NWD1_ENST00000339803.6_Missense_Mutation_p.D866N|NWD1_ENST00000549814.1_Missense_Mutation_p.D1001N|NWD1_ENST00000552788.1_Missense_Mutation_p.D1001N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1001							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGATGCCTCTGATCCTTGGAT	0.527000													104	225					0	0	0.000781405	0	0
DEAF1	10522	broad.mit.edu	37	11	654029	654029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:654029C>T	ENST00000382409.3	-	11	2010	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	DEAF1_ENST00000338675.6_Missense_Mutation_p.R434Q|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	509					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CATAGCCTCCCGGCCGCAGTT	0.627000													148	163					0	0	0.000781405	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552678	173552678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:173552678G>A	ENST00000367714.3	-	6	1029	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R101W|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	203					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CTGTTGCCCCGAAAATTTCCA	0.284000													29	107					0	0	0.000491102	0	0
TPST2	8459	broad.mit.edu	37	22	26936874	26936874	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:26936874C>T	ENST00000338754.4	-	3	993	c.723G>A	c.(721-723)ctG>ctA	p.L241L	TPST2_ENST00000398110.2_Silent_p.L241L|TPST2_ENST00000403880.1_Silent_p.L241L	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	241					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GGTGCAGCACCAGCTGCTCGT	0.602000													151	380					0	0	0.000781405	0	0
SLC29A1	2030	broad.mit.edu	37	6	44198583	44198583	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:44198583A>G	ENST00000393841.1	+	9	1214	c.723A>G	c.(721-723)gaA>gaG	p.E241E	SLC29A1_ENST00000371724.1_Silent_p.E241E|SLC29A1_ENST00000371755.3_Silent_p.E241E|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000427851.2_Silent_p.E241E|SLC29A1_ENST00000371708.1_Silent_p.E241E|SLC29A1_ENST00000393844.1_Silent_p.E241E|SLC29A1_ENST00000371713.1_Silent_p.E241E|SLC29A1_ENST00000371740.5_Silent_p.E241E|SLC29A1_ENST00000371731.1_Silent_p.E241E|SLC29A1_ENST00000313248.7_Silent_p.E320E	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	241					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TCAAGCTTGAAGGACCCGGGG	0.557000													469	906					0	0	0.000781405	0	0
AP4E1	23431	broad.mit.edu	37	15	51250973	51250973	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:51250973G>T	ENST00000261842.5	+	14	1939	c.1833G>T	c.(1831-1833)agG>agT	p.R611S	AP4E1_ENST00000560508.1_Missense_Mutation_p.R536S	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	611					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CAGTTGACAGGAGTTGTGAAG	0.348000													24	53					1.55469e-16	2.23295e-15	0.00047179	1	0
SLC22A7	10864	broad.mit.edu	37	6	43266304	43266304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:43266304C>T	ENST00000372585.5	+	1	303	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	SLC22A7_ENST00000372589.3_Missense_Mutation_p.P70S|SLC22A7_ENST00000372574.3_Missense_Mutation_p.P70S|SLC22A7_ENST00000487175.1_Intron	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	70						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GGCCCATCTTCCCCGGGAGCC	0.662000													113	223					0	0	0.000781405	0	0
RPH3A	22895	broad.mit.edu	37	12	113333679	113333679	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113333679G>C	ENST00000389385.4	+	21	2451		c.e21+1		RPH3A_ENST00000543106.2_Splice_Site|RPH3A_ENST00000549913.2_Splice_Site|RPH3A_ENST00000447659.2_Splice_Site|RPH3A_ENST00000415485.3_Splice_Site|RPH3A_ENST00000551052.1_Splice_Site|RPH3A_ENST00000548866.1_Splice_Site|RPH3A_ENST00000420983.2_Splice_Site	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)						intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GATTACATCGGTGAGTGTTCC	0.468000													10	23					0	0	0.000673444	0	0
OBSCN	84033	broad.mit.edu	37	1	228456411	228456411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:228456411G>A	ENST00000570156.2	+	19	5668	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q	OBSCN_ENST00000422127.1_Missense_Mutation_p.R1681Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R337Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1681Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	853	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGCACACGGAGGCTGGTG	0.672000													376	317					0	0	0.000781405	0	0
FOXA3	3171	broad.mit.edu	37	19	46375989	46375989	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:46375989C>T	ENST00000302177.2	+	2	923	c.726C>T	c.(724-726)acC>acT	p.T242T		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	242					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CGACCACCACCCCCGCGGCCA	0.692000													73	85					0	0	0.000781405	0	0
OR52M1	119772	broad.mit.edu	37	11	4566873	4566873	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4566873C>T	ENST00000360213.1	+	1	453	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTTTCTCTCCTCCGGGGTG	0.527000													6	44					0	0	3.59834e-05	0	0
ALG11	440138	broad.mit.edu	37	13	52586554	52586554	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:52586554G>A	ENST00000521508.1	+	0	5				ALG11_ENST00000523764.1_De_novo_Start_InFrame	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTCGGCGGAAGATGGCGGCCG	0.597000													200	435					0	0	0.000781405	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887913	9887913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:9887913G>A	ENST00000306084.6	+	2	1636	c.1437G>A	c.(1435-1437)tgG>tgA	p.W479*	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Nonsense_Mutation_p.W412*|TXNDC2_ENST00000577697.1_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	479	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CGGCCACGTGGTGTGGGCCCT	0.587000													27	60					0	0	0.000878237	0	0
SSPO	23145	broad.mit.edu	37	7	149477368	149477368	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:149477368C>T	ENST00000378016.2	+	0	1439							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACTGCGTCTCCCTCTGCCCA	0.672000													42	61					0	0	0.000374591	0	0
ADO	84890	broad.mit.edu	37	10	64565099	64565099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:64565099G>A	ENST00000373783.1	+	1	584	c.280G>A	c.(280-282)Gac>Aac	p.D94N	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	94							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTACGAGACGGACGGCTTCAG	0.667000													55	104					0	0	0.000781405	0	0
POFUT1	23509	broad.mit.edu	37	20	30803152	30803152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:30803152G>A	ENST00000375749.3	+	3	389	c.327G>A	c.(325-327)atG>atA	p.M109I	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Missense_Mutation_p.M109I	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	109					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGGATTTCATGGAGAAGCTGG	0.572000													250	388					0	0	0.000781405	0	0
GTF2F2	2963	broad.mit.edu	37	13	45841479	45841479	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:45841479A>C	ENST00000340473.6	+	7	739	c.598A>C	c.(598-600)Aag>Cag	p.K200Q		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	200					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		CTATAATCTTAAGGACTTGGT	0.373000													59	114					0	0	0.000781405	0	0
SBSPON	157869	broad.mit.edu	37	8	73993372	73993372	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:73993372C>T	ENST00000297354.6	-	2	495	c.291G>A	c.(289-291)cgG>cgA	p.R97R	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	97	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										CCGAGCGCCTCCGCACACGGG	0.662000													199	462					0	0	0.000781405	0	0
HPSE	10855	broad.mit.edu	37	4	84222179	84222179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:84222179G>A	ENST00000405413.2	-	12	1542	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L	HPSE_ENST00000513463.1_Missense_Mutation_p.P411L|HPSE_ENST00000512196.1_Missense_Mutation_p.P395L|HPSE_ENST00000311412.5_Missense_Mutation_p.P469L	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	469					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GTTAGAAAAAGGATAGGGTAA	0.368000													66	65					0	0	0.000781405	0	0
ZNF501	115560	broad.mit.edu	37	3	44776262	44776262	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:44776262C>G	ENST00000396048.2	+	3	786	c.349C>G	c.(349-351)Cag>Gag	p.Q117E		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AGCCTTTTGTCAGAGCCCATC	0.393000													4	388					0	0	0.00024832	0	0
CALCR	799	broad.mit.edu	37	7	93090202	93090202	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:93090202C>T	ENST00000359558.2	-	10	980	c.681G>A	c.(679-681)ctG>ctA	p.L227L	CALCR_ENST00000360249.4_Silent_p.L209L|CALCR_ENST00000421592.1_Silent_p.L209L|CALCR_ENST00000394441.1_Silent_p.L193L|CALCR_ENST00000426151.1_Silent_p.L193L	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	209					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCATAGAATTCAGAATGTAAG	0.413000													17	21					0	0	0.000566183	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537579	28537579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:28537579G>A	ENST00000401766.2	-	10	1915	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A468V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	468					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GATGACCACGGCGAGCACGAA	0.602000													184	229					0	0	0.000781405	0	0
EIF3F	8665	broad.mit.edu	37	11	8016890	8016890	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:8016890G>A	ENST00000533626.1	+	9	1598	c.972G>A	c.(970-972)gaG>gaA	p.E324E	EIF3F_ENST00000537635.1_Silent_p.E339E|EIF3F_ENST00000309828.4_Silent_p.E324E|EIF3F_ENST00000449102.2_Silent_p.E175E			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	324						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGACTTTGAGACCATGCTCA	0.493000													296	262					0	0	0.000781405	0	0
KCNMB3	27094	broad.mit.edu	37	3	178968769	178968769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:178968769G>A	ENST00000392685.2	-	1	649	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	KCNMB3_ENST00000314235.5_Intron|KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000349697.2_Intron|KCNMB3_ENST00000485523.1_Intron	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			TCATAAAGAAGGGGGAACATT	0.483000													124	192					0	0	0.000781405	0	0
UNC93A	54346	broad.mit.edu	37	6	167721272	167721272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:167721272G>A	ENST00000230256.3	+	7	1157	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	UNC93A_ENST00000366829.2_Missense_Mutation_p.V286M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	328						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCAGGCGCGGTGACCCACGT	0.622000													109	117					0	0	0.000781405	0	0
DHRS2	10202	broad.mit.edu	37	14	24114504	24114504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24114504G>A	ENST00000344777.7	+	9	1334	c.896G>A	c.(895-897)gGa>gAa	p.G299E	DHRS2_ENST00000250383.6_3'UTR	NM_182908.4	NP_878912.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCAGGCCCAGGAGCCTGAGGG	0.592000													184	299					0	0	0.000781405	0	0
ITGB4	3691	broad.mit.edu	37	17	73723294	73723294	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:73723294C>T	ENST00000200181.3	+	3	286	c.99C>T	c.(97-99)gcC>gcT	p.A33A	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.A33A|ITGB4_ENST00000579662.1_Silent_p.A33A|ITGB4_ENST00000450894.3_Silent_p.A33A|ITGB4_ENST00000449880.2_Silent_p.A33A	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	33	PSI.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAAGAAGGCCCCAGTGAAGA	0.607000													47	113					0	0	0.000781405	0	0
HOOK1	51361	broad.mit.edu	37	1	60299104	60299104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:60299104C>T	ENST00000371208.3	+	5	558	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	HOOK1_ENST00000395561.2_Missense_Mutation_p.L59F|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	101	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCAGAAGCACTTATCCCTGA	0.358000													19	25					0	0	0.000958276	0	0
TET1	80312	broad.mit.edu	37	10	70333459	70333459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:70333459C>T	ENST00000373644.4	+	2	1573	c.1364C>T	c.(1363-1365)aCt>aTt	p.T455I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	455					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCAAAGCACTGTCTCATAT	0.463000													121	227					0	0	0.000781405	0	0
OR6F1	343169	broad.mit.edu	37	1	247875599	247875599	+	Silent	SNP	G	G	A	rs144440883	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:247875599G>A	ENST00000302084.2	-	1	506	c.459C>T	c.(457-459)ttC>ttT	p.F153F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F153L(1)|p.F153F(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAATGGCCACGAAACCACACA	0.587000													51	213					0	0	0.000781405	0	0
FAM131B	9715	broad.mit.edu	37	7	143053858	143053858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:143053858C>T	ENST00000409408.1	-	6	2492	c.784G>A	c.(784-786)Ggg>Agg	p.G262R	FAM131B_ENST00000409222.3_Missense_Mutation_p.G262R|FAM131B_ENST00000409346.1_Missense_Mutation_p.G262R|FAM131B_ENST00000443739.2_Missense_Mutation_p.G290R|FAM131B_ENST00000409578.1_Missense_Mutation_p.G278R			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	262										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCGCCTACCCCCGGAGCCCAG	0.622000													381	600					0	0	0.000781405	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602558	45602558	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:45602558C>T	ENST00000423875.1	-	0	878																											AATATATAAACAGGGTGGCAT	0.443000													15	12					0	0	0.000308642	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735289	55735289	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55735289C>T	ENST00000312345.2	-	1	701	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGACAATTTCAAAATGTTGG	0.393000													24	40					0	0	0.000295444	0	0
HHEX	3087	broad.mit.edu	37	10	94450100	94450100	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:94450100C>A	ENST00000282728.5	+	1	2156	c.357C>A	c.(355-357)ccC>ccA	p.P119P		NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	119	Pro-rich.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						GCCACGACCCCCTGGGTAAGG	0.766000													16	1718					0.000274275	0.00383431	0.000274275	1	0
CHL1	10752	broad.mit.edu	37	3	391211	391211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:391211C>T	ENST00000256509.2	+	10	1660	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	CHL1_ENST00000397491.2_Missense_Mutation_p.H324Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	324	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCACGATTTTCACGTTATAGT	0.393000													36	101					0	0	0.000228196	0	0
C6	729	broad.mit.edu	37	5	41158868	41158868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:41158868C>T	ENST00000263413.3	-	13	2140	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	C6_ENST00000337836.5_Missense_Mutation_p.D626N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	626					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTTCGTCATCATTGATACAT	0.388000													3	1					0	0	6.4e-05	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216471	20216471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20216471G>A	ENST00000331723.1	+	1	885	c.885G>A	c.(883-885)atG>atA	p.M295I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGATATGAAGACAGCTA	0.398000													5	23					0	0	3.59834e-05	0	0
VPS37A	137492	broad.mit.edu	37	8	17132465	17132465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:17132465C>T	ENST00000324849.4	+	5	1314	c.640C>T	c.(640-642)Ccg>Tcg	p.P214S	VPS37A_ENST00000521829.1_Missense_Mutation_p.P189S	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	214					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		TGCTTCAATACCGGTTGGTAT	0.423000													62	117					0	0	0.000781405	0	0
PYGB	5834	broad.mit.edu	37	20	25277119	25277119	+	Silent	SNP	C	C	T	rs141315124	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:25277119C>T	ENST00000216962.4	+	20	2603	c.2493C>T	c.(2491-2493)tcC>tcT	p.S831S	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	831					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TGGAGCCCTCCGACCTGCAGA	0.612000													213	355					0	0	0.000781405	0	0
UNC5B	219699	broad.mit.edu	37	10	73057803	73057803	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:73057803G>A	ENST00000335350.6	+	16	3044	c.2628G>A	c.(2626-2628)cgG>cgA	p.R876R	UNC5B_ENST00000373192.4_Silent_p.R865R	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	876	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAACTCACGGGGCAATGACT	0.562000													95	216					0	0	0.000781405	0	0
DLG5	9231	broad.mit.edu	37	10	79581657	79581657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:79581657C>T	ENST00000372391.2	-	15	2590	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	862					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTGCTGCCTCCTGGGGGGCC	0.582000													260	349					0	0	0.000781405	0	0
SLC7A11	23657	broad.mit.edu	37	4	139157563	139157563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:139157563G>A	ENST00000280612.5	-	2	599	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	107					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATGACCTCCAGATTTCTTTAT	0.373000													34	141					0	0	0.00058488	0	0
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350																											TACAGATGCTACGGTGCACAC	0.677000													5	232					0	0	6.40141e-05	0	0
CASR	846	broad.mit.edu	37	3	122003540	122003540	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122003540C>T	ENST00000498619.1	+	7	3207	c.2769C>T	c.(2767-2769)tcC>tcT	p.S923S	CASR_ENST00000296154.5_Silent_p.S913S|CASR_ENST00000490131.1_Silent_p.S913S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	913					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTCCTCCTCCATCAGCAGCA	0.662000													93	170					0	0	0.000781405	0	0
CD86	942	broad.mit.edu	37	3	121838341	121838341	+	Missense_Mutation	SNP	C	C	T	rs141281931		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121838341C>T	ENST00000330540.2	+	7	1066	c.950C>T	c.(949-951)tCg>tTg	p.S317L	CD86_ENST00000264468.5_Missense_Mutation_p.S104L|CD86_ENST00000393627.2_Missense_Mutation_p.S311L|CD86_ENST00000493101.1_Missense_Mutation_p.S205L|CD86_ENST00000469710.1_Missense_Mutation_p.S235L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	317					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTAAAAGTTCGAAGACATCT	0.333000													20	61					0	0	0.000375601	0	0
TNRC6A	27327	broad.mit.edu	37	16	24831623	24831623	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24831623T>A	ENST00000395799.3	+	22	5373	c.5244T>A	c.(5242-5244)gaT>gaA	p.D1748E	TNRC6A_ENST00000432286.2_Missense_Mutation_p.D226E|TNRC6A_ENST00000315183.7_Missense_Mutation_p.D1699E	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1748	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTACGTGGGATAATTCTCCCC	0.522000													99	179					0	0	0.000781405	0	0
C6orf15	29113	broad.mit.edu	37	6	31079247	31079247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31079247G>A	ENST00000259870.3	-	2	892	c.889C>T	c.(889-891)Cct>Tct	p.P297S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	297	Pro-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACTCCAGGAGGAAATGGGTTA	0.522000													105	144					0	0	0.000781405	0	0
DEPDC5	9681	broad.mit.edu	37	22	32270373	32270373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:32270373G>A	ENST00000400246.1	+	36	3820	c.3678G>A	c.(3676-3678)atG>atA	p.M1226I	DEPDC5_ENST00000382112.3_Missense_Mutation_p.M1217I|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.M1195I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.M1226I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.M1126I|DEPDC5_ENST00000266091.3_Missense_Mutation_p.M1204I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.M1148I|DEPDC5_ENST00000539165.1_Missense_Mutation_p.M43I|DEPDC5_ENST00000400248.1_Missense_Mutation_p.M1195I			O75140	DEPD5_HUMAN	DEP domain containing 5	1195	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAGGCGATGGCCATTGACA	0.557000													12	23					0	0	0.000151284	0	0
DMBT1	1755	broad.mit.edu	37	10	124377595	124377595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124377595G>A	ENST00000338354.3	+	38	4673	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K	DMBT1_ENST00000344338.3_Missense_Mutation_p.E1513K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1523K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E374K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E895K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E895K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E1513K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1523	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGCCGAGTGGAGGTCCTATA	0.582000													327	540					0	0	0.000781405	0	0
OR1J1	347168	broad.mit.edu	37	9	125239279	125239279	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:125239279G>A	ENST00000259357.2	-	1	956	c.927C>T	c.(925-927)ggC>ggT	p.G309G		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						gagccactgcgcctgaccTAC	0.488000													20	15					0	0	0.000958276	0	0
MYO16	23026	broad.mit.edu	37	13	109518583	109518583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:109518583C>T	ENST00000356711.2	+	12	1478	c.1352C>T	c.(1351-1353)tCt>tTt	p.S451F	MYO16_ENST00000357550.2_Missense_Mutation_p.S451F|MYO16_ENST00000251041.5_Missense_Mutation_p.S451F	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	451	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAATTTATTCTTCCATGGTG	0.308000													111	165					0	0	0.000781405	0	0
CSF3R	1441	broad.mit.edu	37	1	36937109	36937109	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:36937109G>T	ENST00000373103.1	-	10	1757	c.1210C>A	c.(1210-1212)Cag>Aag	p.Q404K	CSF3R_ENST00000373106.1_Missense_Mutation_p.Q404K|CSF3R_ENST00000338937.5_Missense_Mutation_p.Q404K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.Q404K|CSF3R_ENST00000331941.5_Missense_Mutation_p.Q404K|CSF3R_ENST00000440588.2_Missense_Mutation_p.Q404K|CSF3R_ENST00000373104.1_Missense_Mutation_p.Q404K|CSF3R_ENST00000418048.2_Missense_Mutation_p.Q404K	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	404	Fibronectin type-III 3.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCCACCTCCTGGGCTTCTGAA	0.602000													15	1530					0.000442599	0.00615569	0.000442599	1	0
ZNF236	7776	broad.mit.edu	37	18	74631830	74631830	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:74631830T>C	ENST00000253159.8	+	20	3565	c.3367T>C	c.(3367-3369)Tta>Cta	p.L1123L	ZNF236_ENST00000320610.9_Silent_p.L1125L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1123					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACAGCCCAGTTAGCCAAGAT	0.552000													93	158					0	0	0.000781405	0	0
AP4E1	23431	broad.mit.edu	37	15	51289545	51289545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:51289545C>T	ENST00000261842.5	+	18	2475	c.2369C>T	c.(2368-2370)tCt>tTt	p.S790F	AP4E1_ENST00000560508.1_Missense_Mutation_p.S715F	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	790					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GATACTGTCTCTCACAAGTTC	0.308000													4	15					0	0	3.59834e-05	0	0
PSD3	23362	broad.mit.edu	37	8	18730199	18730199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:18730199C>T	ENST00000440756.2	-	3	277	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	PSD3_ENST00000327040.8_Missense_Mutation_p.E59K|PSD3_ENST00000523619.1_5'UTR			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	59					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCTGGAAATTCATTTGTGACA	0.483000													17	34					0	0	0.00074312	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203256	1203256	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1203256C>T	ENST00000349431.6	-	2	336	c.117G>A	c.(115-117)tcG>tcA	p.S39S	UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Silent_p.S39S|UBE2J2_ENST00000400930.4_Silent_p.S39S	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	39					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.S39S(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAGAATATTCGAAGGGAGGG	0.637000													800	1056					0	0	0.000781405	0	0
GLI2	2736	broad.mit.edu	37	2	121748112	121748112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:121748112C>T	ENST00000452319.1	+	14	4682	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.S1541F			P10070	GLI2_HUMAN	GLI family zinc finger 2	1541					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCCAGAACTCCTCCCGCCTC	0.612000													443	726					0	0	0.000781405	0	0
OAS3	4940	broad.mit.edu	37	12	113403602	113403602	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113403602C>T	ENST00000228928.7	+	12	2636	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	819	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ATGCCGACCTCGTGGTGTTCC	0.607000													16	36					0	0	0.000958276	0	0
GPR55	9290	broad.mit.edu	37	2	231775515	231775515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:231775515C>T	ENST00000392040.1	-	2	355	c.163G>A	c.(163-165)Gat>Aat	p.D55N	GPR55_ENST00000392039.2_Missense_Mutation_p.D55N	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	55					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GCAGCATAATCGGGCCACCTG	0.562000													93	160					0	0	0.000781405	0	0
LPHN3	23284	broad.mit.edu	37	4	62598838	62598838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:62598838C>T	ENST00000512091.1	+	7	1508	c.761C>T	c.(760-762)cCt>cTt	p.P254L	LPHN3_ENST00000511324.1_Missense_Mutation_p.P322L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P322L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P254L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P322L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P254L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P254L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P254L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P254L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P254L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P254L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P322L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P322L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	254	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATACCTCCCCTTACCGATGG	0.423000													6	15					0	0	3.59834e-05	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340692	39340692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:39340692G>A	ENST00000398472.1	-	1	902	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	139	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCAGCTGGGGCGGCAGCAA	0.537000													491	847					0	0	0.000781405	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632228	156632228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:156632228G>A	ENST00000296518.7	+	6	1120	c.911G>A	c.(910-912)gGc>gAc	p.G304D	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.G46D|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G304D|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G304D|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G304D|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G304D|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.G304D			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	304					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTGGCAATGGCATCAGAAGG	0.418000													21	9					0	0	0.000229342	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													4	94					0	0	3.59834e-05	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126317	121126317	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121126317C>T	ENST00000273666.6	+	24	3158	c.2887C>T	c.(2887-2889)Ctg>Ttg	p.L963L	STXBP5L_ENST00000471454.1_Silent_p.L939L|STXBP5L_ENST00000492541.1_Silent_p.L963L|STXBP5L_ENST00000472879.1_Silent_p.L939L|STXBP5L_ENST00000497029.1_Silent_p.L937L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	963					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTCTTCTCACTGCCTTCTCA	0.418000													14	10					0	0	0.000422831	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039805	62039805	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:62039805G>A	ENST00000354587.3	-	16	2048	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	KCNQ2_ENST00000344462.3_Silent_p.D612D|KCNQ2_ENST00000357249.2_Silent_p.D598D|KCNQ2_ENST00000359125.2_Silent_p.D616D|KCNQ2_ENST00000360480.3_Silent_p.D588D|KCNQ2_ENST00000359689.1_Silent_p.D616D|KCNQ2_ENST00000430658.1_Silent_p.D585D|KCNQ2_ENST00000370224.1_Silent_p.D624D|KCNQ2_ENST00000370226.1_Silent_p.D586D			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	616					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCATGCTGGGGTCCTCGGGCA	0.701000													67	109					0	0	0.000781405	0	0
SUPT6H	6830	broad.mit.edu	37	17	27002448	27002448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:27002448G>A	ENST00000314616.6	+	6	851	c.568G>A	c.(568-570)Gga>Aga	p.G190R	SUPT6H_ENST00000347486.4_Missense_Mutation_p.G190R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	190	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGATGATGATGGACAGCCTCT	0.498000													111	174					0	0	0.000781405	0	0
HIC2	23119	broad.mit.edu	37	22	21800779	21800779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:21800779C>T	ENST00000443632.2	+	2	1967	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	HIC2_ENST00000407598.2_Missense_Mutation_p.P532L|HIC2_ENST00000407464.2_Missense_Mutation_p.P532L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	532					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTGACACGGCCCTTCCCCTGC	0.637000													200	353					0	0	0.000781405	0	0
KL	9365	broad.mit.edu	37	13	33635166	33635166	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:33635166C>T	ENST00000380099.3	+	4	1958	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	650	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGCCGCGCCTCCTGGCCAGGC	0.622000													87	203					0	0	0.000781405	0	0
PKDCC	91461	broad.mit.edu	37	2	42284374	42284374	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:42284374C>T	ENST00000294964.5	+	6	1416	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	PKDCC_ENST00000480099.1_Intron	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	412	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						ACCAGTGTATCCCAGACAGCA	0.547000													269	454					0	0	0.000781405	0	0
NUBP2	10101	broad.mit.edu	37	16	1838655	1838655	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:1838655C>T	ENST00000262302.9	+	7	876	c.756C>T	c.(754-756)ttC>ttT	p.F252F	NUBP2_ENST00000568706.1_Silent_p.F111F|NUBP2_ENST00000543305.1_Silent_p.F111F|NUBP2_ENST00000565987.1_Silent_p.F192F	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	252						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GCCCCGCCTTCGCTGCACTCA	0.667000													123	149					0	0	0.000781405	0	0
CUX2	23316	broad.mit.edu	37	12	111785931	111785931	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:111785931C>T	ENST00000261726.6	+	22	4417	c.4263C>T	c.(4261-4263)tcC>tcT	p.S1421S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1421	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCCCATCTCCCCATCCCCAC	0.657000													57	203					0	0	0.000781405	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180726	142180726	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142180726C>T	ENST00000390368.2	-	0	198																											TGGTTCATATCCTGGGCACAC	0.512000													88	484					0	0	0.000781405	0	0
GPR156	165829	broad.mit.edu	37	3	119900021	119900021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:119900021C>T	ENST00000464295.1	-	8	1329	c.884G>A	c.(883-885)gGg>gAg	p.G295E	GPR156_ENST00000461057.1_Missense_Mutation_p.G291E|GPR156_ENST00000315843.3_Missense_Mutation_p.G295E			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	295						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AACAAAGATCCCTCCAGATGT	0.483000													27	53					0	0	0.000878237	0	0
SGSM2	9905	broad.mit.edu	37	17	2266792	2266792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:2266792G>A	ENST00000268989.3	+	7	883	c.706G>A	c.(706-708)Gag>Aag	p.E236K	SGSM2_ENST00000426855.2_Missense_Mutation_p.E236K|SGSM2_ENST00000574563.1_Missense_Mutation_p.E236K	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	236						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAGCGCGTCGGAGGACAGGCT	0.652000													101	55					0	0	0.000781405	0	0
REG4	83998	broad.mit.edu	37	1	120345601	120345601	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:120345601G>A	ENST00000369401.4	-	3	520	c.255C>T	c.(253-255)gtC>gtT	p.V85V	REG4_ENST00000256585.5_Intron|REG4_ENST00000354219.1_Intron|REG4_ENST00000530654.1_Intron	NM_001159353.1	NP_001152825.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	0	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GCCCAGGAAGGACACTTGATC	0.498000													533	973					0	0	0.000781405	0	0
CBX8	57332	broad.mit.edu	37	17	77770084	77770084	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:77770084G>A	ENST00000269385.4	-	3	261	c.144C>T	c.(142-144)atC>atT	p.I48I	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	48	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGCATCCAGGATGTTTTCCT	0.547000													570	954					0	0	0.000781405	0	0
KLHL20	27252	broad.mit.edu	37	1	173703100	173703100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:173703100C>T	ENST00000209884.4	+	3	408	c.272C>T	c.(271-273)cCc>cTc	p.P91L	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	91	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCCTGTAGTCCCTACTTCCGA	0.478000													109	74					0	0	0.000781405	0	0
LPAR2	9170	broad.mit.edu	37	19	19735326	19735326	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:19735326A>G	ENST00000542587.1	-	6	1697	c.795T>C	c.(793-795)ggT>ggC	p.G265G	LPAR2_ENST00000586703.1_Silent_p.G265G|LPAR2_ENST00000407877.3_Silent_p.G265G			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	265					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						CACAGCCTAAACCATCCAGGA	0.592000													156	304					0	0	0.000781405	0	0
EVC	2121	broad.mit.edu	37	4	5785473	5785473	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:5785473C>T	ENST00000382674.2	+	12	1942	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L	EVC_ENST00000264956.6_Silent_p.L586L			P57679	EVC_HUMAN	Ellis van Creveld syndrome	586					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCCAGGAGCTCCTAGAGCAAG	0.562000													14	68					0	0	0.000151284	0	0
SRC	6714	broad.mit.edu	37	20	36022652	36022652	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:36022652C>T	ENST00000373578.2	+	7	874	c.525C>T	c.(523-525)ttC>ttT	p.F175F	SRC_ENST00000445403.1_Silent_p.F175F|SRC_ENST00000373567.2_Silent_p.F175F|SRC_ENST00000373558.2_Silent_p.F181F|SRC_ENST00000360723.4_Silent_p.F181F|SRC_ENST00000358208.4_Silent_p.F175F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	175	SH2.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GAGGGACCTTCCTCGTGCGAG	0.557000													270	503					0	0	0.000781405	0	0
TENM4	26011	broad.mit.edu	37	11	78387371	78387371	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:78387371G>C	ENST00000278550.7	-	30	5784	c.5322C>G	c.(5320-5322)aaC>aaG	p.N1774K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCTCCATGCCGTTGGCCAGCA	0.632000													134	162					0	0	0.000781405	0	0
INADL	10207	broad.mit.edu	37	1	62503682	62503682	+	Silent	SNP	T	T	A	rs35421196		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:62503682T>A	ENST00000371158.2	+	30	4107	c.3993T>A	c.(3991-3993)acT>acA	p.T1331T	INADL_ENST00000543708.1_Silent_p.T115T|INADL_ENST00000545929.1_Silent_p.T4T|INADL_ENST00000316485.6_Silent_p.T1331T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1331					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGGCCGTTACTCCCTTTCCAG	0.388000													24	55					0	0	0.000147802	0	0
PDLIM2	64236	broad.mit.edu	37	8	22451334	22451334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:22451334G>A	ENST00000265810.4	+	9	1085	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	PDLIM2_ENST00000397761.2_Missense_Mutation_p.G324R|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409417.1_Missense_Mutation_p.G324R|PDLIM2_ENST00000409141.1_3'UTR|PDLIM2_ENST00000397760.4_Missense_Mutation_p.G324R|PDLIM2_ENST00000308354.7_Missense_Mutation_p.G574R|PDLIM2_ENST00000339162.7_3'UTR|AC037459.4_ENST00000430850.2_Missense_Mutation_p.G118R	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	324	LIM zinc-binding.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GAAGATGCGCGGGCACTTCTG	0.672000													38	97					0	0	0.000319135	0	0
ABCA9	10350	broad.mit.edu	37	17	66972067	66972067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:66972067C>T	ENST00000340001.4	-	39	5075	c.4864G>A	c.(4864-4866)Gaa>Aaa	p.E1622K	ABCA9_ENST00000453985.2_Missense_Mutation_p.E1584K|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1622					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAAGGCTCTTCCTGCAGGAGG	0.423000													9	21					0	0	0.000673444	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334746	122334746	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:122334746C>T	ENST00000398250.1	+	6	901	c.549C>T	c.(547-549)atC>atT	p.I183I	PPAPDC1A_ENST00000439221.1_Silent_p.I120I|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Silent_p.I183I|PPAPDC1A_ENST00000369073.3_Silent_p.I173I|PPAPDC1A_ENST00000496437.1_3'UTR	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	183					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTGCTGCCATCCTGCCCTTGT	0.607000													48	101					0	0	0.000781405	0	0
RNASE4	6038	broad.mit.edu	37	14	21167603	21167603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:21167603C>T	ENST00000555835.1	+	2	749	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.P25S|RNASE4_ENST00000397995.2_Missense_Mutation_p.P25S|RNASE4_ENST00000555597.1_Missense_Mutation_p.P25S|AL163636.6_ENST00000553909.1_RNA	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	25					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GCTGGTCCAGCCCTCCTATGG	0.557000													210	360					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179664226	179664226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179664226G>A	ENST00000589042.1	-	6	1126	c.902C>T	c.(901-903)cCa>cTa	p.P301L	TTN_ENST00000360870.5_Missense_Mutation_p.P301L|TTN_ENST00000342175.6_Missense_Mutation_p.P301L|TTN_ENST00000342992.6_Missense_Mutation_p.P301L|TTN_ENST00000359218.5_Missense_Mutation_p.P301L|TTN_ENST00000460472.2_Missense_Mutation_p.P301L|TTN_ENST00000591111.1_Missense_Mutation_p.P301L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	301	ZIS1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCGGAGATGGGGTCGGTGC	0.567000													20	44					0	0	0.000132079	0	0
DGKH	160851	broad.mit.edu	37	13	42769041	42769041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:42769041C>T	ENST00000379274.2	+	17	2077	c.1648C>T	c.(1648-1650)Cca>Tca	p.P550S	DGKH_ENST00000337343.4_Missense_Mutation_p.P686S|DGKH_ENST00000261491.4_Missense_Mutation_p.P686S|DGKH_ENST00000540693.1_Missense_Mutation_p.P686S|DGKH_ENST00000538674.1_Missense_Mutation_p.P441S|DGKH_ENST00000536612.1_Missense_Mutation_p.P550S|DGKH_ENST00000498255.2_3'UTR			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	686					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACCTCGGTCTCCAGATGCCCG	0.418000													34	60					0	0	0.000228196	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036506	21036506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:21036506G>A	ENST00000381545.3	+	13	1871	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	LST3_ENST00000540229.1_Missense_Mutation_p.G551E|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G551E|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G551E	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	551					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCTGCAACAGGAGGTACCACA	0.343000													34	65					0	0	0.000692331	0	0
ABCC6	368	broad.mit.edu	37	16	16282690	16282690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:16282690G>A	ENST00000205557.7	-	13	1806	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	593	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACCTCACCTGGACGAGGGAG	0.572000													27	66					0	0	0.000720815	0	0
DENND3	22898	broad.mit.edu	37	8	142151323	142151323	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:142151323G>T	ENST00000519811.1	+	4	593	c.523G>T	c.(523-525)Ggc>Tgc	p.G175C	DENND3_ENST00000262585.2_Missense_Mutation_p.G95C|DENND3_ENST00000518347.1_Missense_Mutation_p.G175C|DENND3_ENST00000424248.1_Missense_Mutation_p.G95C			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	95	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)			TTTCTACAATGGCAAAACGCA	0.527000													252	490					1.24314e-124	1.80945e-123	0.000781405	1	0
FCGBP	8857	broad.mit.edu	37	19	40430452	40430452	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:40430452C>T	ENST00000221347.6	-	3	1498	c.1491G>A	c.(1489-1491)acG>acA	p.T497T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	497	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTCCACCATCGTGTACGAAC	0.682000													42	86					0	0	0.000319135	0	0
SCN8A	6334	broad.mit.edu	37	12	52156341	52156341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:52156341C>T	ENST00000354534.5	+	15	2603	c.2425C>T	c.(2425-2427)Ccc>Tcc	p.P809S	SCN8A_ENST00000545061.1_Missense_Mutation_p.P809S|SCN8A_ENST00000550891.1_Missense_Mutation_p.P809S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	809					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCCATGGATCCCTACTATTA	0.413000													173	204					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82583374	82583374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82583374C>T	ENST00000423517.2	-	5	7232	c.6895G>A	c.(6895-6897)Gac>Aac	p.D2299N	PCLO_ENST00000333891.8_Missense_Mutation_p.D2299N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2230					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCACTGGGTCCTTTTCAGAT	0.408000													66	86					0	0	0.000781405	0	0
SLC6A8	6535	broad.mit.edu	37	X	152956946	152956946	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:152956946C>T	ENST00000253122.5	+	3	1058	c.582C>T	c.(580-582)agC>agT	p.S194S	SLC6A8_ENST00000430077.2_Silent_p.S79S	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	194					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCAATGCCAGCCTGGCCAACC	0.627000													700	199					0	0	0.000781405	0	0
OR5A2	219981	broad.mit.edu	37	11	59189564	59189564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:59189564G>A	ENST00000302040.4	-	1	885	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGATGATGGGATTCACCAC	0.463000													4	34					0	0	0.000602214	0	0
CLCNKA	1187	broad.mit.edu	37	1	16350408	16350408	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16350408G>T	ENST00000375692.1	+	4	342	c.214G>T	c.(214-216)Ggg>Tgg	p.G72W	CLCNKA_ENST00000331433.4_Missense_Mutation_p.G72W|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G72W|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G72W			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	72					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTTGCCATCGGGTGTGTGGT	0.592000													9	699					0.000673444	0.00928291	0.000673444	1	0
SPG11	80208	broad.mit.edu	37	15	44918538	44918538	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:44918538C>T	ENST00000261866.7	-	11	2251	c.2235G>A	c.(2233-2235)ttG>ttA	p.L745L	SPG11_ENST00000535302.2_Silent_p.L745L|SPG11_ENST00000558319.1_Silent_p.L745L|SPG11_ENST00000559193.1_Silent_p.L745L|SPG11_ENST00000427534.2_Silent_p.L745L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	745					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCATATTCTTCAAAAGTTCAG	0.274000													49	70					0	0	0.000781405	0	0
MUC15	143662	broad.mit.edu	37	11	26584715	26584715	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:26584715C>T	ENST00000436318.2	-	3	1006	c.873G>A	c.(871-873)agG>agA	p.R291R	MUC15_ENST00000455601.2_Silent_p.R264R|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Intron|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000529533.1_Silent_p.R291R|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	264						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AATCCGTTTTCCTTTTTCCAC	0.388000													12	23					0	0	0.000151284	0	0
ISLR2	57611	broad.mit.edu	37	15	74427119	74427119	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:74427119A>G	ENST00000361742.3	+	4	2793	c.2024A>G	c.(2023-2025)gAg>gGg	p.E675G	ISLR2_ENST00000565159.1_Missense_Mutation_p.E675G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.E675G|ISLR2_ENST00000419208.1_Missense_Mutation_p.E675G|ISLR2_ENST00000445793.1_Missense_Mutation_p.E675G|ISLR2_ENST00000565540.1_Missense_Mutation_p.E675G|ISLR2_ENST00000435464.1_Missense_Mutation_p.E675G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	675					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTGCAGGGGGAGGGCCTTGAT	0.682000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	653					0	0	0.000673444	0	0
RIMS2	9699	broad.mit.edu	37	8	104897710	104897710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:104897710G>A	ENST00000507740.1	+	2	543	c.307G>A	c.(307-309)Gac>Aac	p.D103N	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.D295N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D103N|RIMS2_ENST00000436393.2_Missense_Mutation_p.D73N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	326	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGTTATAGGGACTCCAACAG	0.408000										HNSCC(12;0.0054)			9	17					0	0	0.000442599	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158970589	158970589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:158970589G>A	ENST00000485419.1	+	3	317	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	IQCJ_ENST00000482126.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000481796.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.V50M|IQCJ_ENST00000397832.2_Missense_Mutation_p.V50M	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GGAATCAAAGGTGAAAATGTA	0.338000													4	23					0	0	0.00024832	0	0
PLCB4	5332	broad.mit.edu	37	20	9318659	9318659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:9318659G>A	ENST00000378501.2	+	3	185	c.170G>A	c.(169-171)gGa>gAa	p.G57E	PLCB4_ENST00000414679.2_Missense_Mutation_p.G57E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G57E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G57E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G57E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G57E|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	57					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTCAGGAAGGACAGGTGCTA	0.413000													7	15					0	0	8.12818e-05	0	0
GPR97	222487	broad.mit.edu	37	16	57713216	57713216	+	Missense_Mutation	SNP	C	C	A	rs146307657		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:57713216C>A	ENST00000333493.4	+	5	781	c.620C>A	c.(619-621)cCg>cAg	p.P207Q	GPR97_ENST00000450388.3_Missense_Mutation_p.P87Q|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	207					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P207L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCAGCGACCGCCCCCTGTG	0.617000													7	545					0.000274275	0.00383431	0.000274275	1	0
LRRC17	10234	broad.mit.edu	37	7	102584657	102584657	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:102584657C>T	ENST00000339431.4	+	4	1224	c.928_splice	c.e4-1	p.A310_splice	LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	310					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CTGTTTCCAGCCGCTTTTTTA	0.308000													42	103					0	0	0.000680045	0	0
SNAP47	116841	broad.mit.edu	37	1	227968362	227968362	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:227968362G>A	ENST00000366759.4	+	5	1797	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	SNAP47_ENST00000366760.1_Silent_p.K219K	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	461	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGCGGATGAAGAGGCTGACCT	0.622000													159	602					0	0	0.000781405	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599065	31599065	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31599065A>C	ENST00000376033.2	+	16	2849	c.2615A>C	c.(2614-2616)gAa>gCa	p.E872A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E872A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	872	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGCAGTGATGAAGTGGCCAAG	0.637000													160	352					0	0	0.000781405	0	0
HCRTR2	3062	broad.mit.edu	37	6	55120104	55120104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:55120104G>A	ENST00000370862.3	+	3	909	c.573G>A	c.(571-573)atG>atA	p.M191I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	191					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCATCGTCATGGAGTGCAGCA	0.498000													17	33					0	0	0.000422831	0	0
FAM47C	442444	broad.mit.edu	37	X	37027310	37027310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:37027310G>A	ENST00000358047.3	+	1	879	c.827G>A	c.(826-828)gGg>gAg	p.G276E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	276										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						GAGCCTCCTGGGACTGGAGTG	0.612000													196	63					0	0	0.000781405	0	0
C12orf40	283461	broad.mit.edu	37	12	40076547	40076547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:40076547G>A	ENST00000324616.5	+	8	975	c.821G>A	c.(820-822)gGa>gAa	p.G274E	C12orf40_ENST00000398716.1_Missense_Mutation_p.G197E|C12orf40_ENST00000405531.3_Missense_Mutation_p.G274E	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	274										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GGGAAAAATGGAAAGGAAGTT	0.343000													57	75					0	0	0.000781405	0	0
LGMN	5641	broad.mit.edu	37	14	93183739	93183739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:93183739C>T	ENST00000393218.2	-	5	641	c.304G>A	c.(304-306)Gac>Aac	p.D102N	LGMN_ENST00000557434.1_Missense_Mutation_p.D102N|LGMN_ENST00000555699.1_Missense_Mutation_p.D102N|LGMN_ENST00000334869.4_Missense_Mutation_p.D102N	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	102					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CCAGTGTAGTCCTTCGGGACT	0.438000													387	684					0	0	0.000781405	0	0
ATG14	22863	broad.mit.edu	37	14	55847310	55847310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:55847310G>A	ENST00000247178.5	-	7	1011	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	326					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AGCTTTTTGGGAAGATTTACA	0.403000													22	36					0	0	0.000720815	0	0
KMT2D	8085	broad.mit.edu	37	12	49432566	49432566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:49432566G>A	ENST00000301067.7	-	34	8572	c.8573C>T	c.(8572-8574)tCc>tTc	p.S2858F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGACGGGTGGAAATTCCCGC	0.602000													20	92					0	0	0.000132079	0	0
OR56A3	390083	broad.mit.edu	37	11	5969381	5969381	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5969381A>G	ENST00000329564.6	+	1	812	c.805A>G	c.(805-807)Aag>Gag	p.K269E		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTGGCTAAGAAGAAAGT	0.517000													109	420					0	0	0.000781405	0	0
MYO18B	84700	broad.mit.edu	37	22	26159234	26159234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:26159234C>T	ENST00000335473.7	+	3	326	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	MYO18B_ENST00000536101.1_Missense_Mutation_p.P26S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P26S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	26						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCATCCTCGCCCCCTCCTCT	0.547000													76	96					0	0	0.000781405	0	0
KCNA10	3744	broad.mit.edu	37	1	111060471	111060471	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:111060471G>A	ENST00000369771.2	-	1	1326	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	313						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAAAGTAGGGGATAATGGAGA	0.527000													87	147					0	0	0.000781405	0	0
PLAT	5327	broad.mit.edu	37	8	42037570	42037570	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:42037570T>C	ENST00000220809.4	-	12	1493	c.1237A>G	c.(1237-1239)Aaa>Gaa	p.K413E	PLAT_ENST00000524009.1_Missense_Mutation_p.K324E|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.K413E|PLAT_ENST00000519510.1_Missense_Mutation_p.K350E|PLAT_ENST00000352041.3_Missense_Mutation_p.K367E|PLAT_ENST00000429710.2_Missense_Mutation_p.K287E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	413	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAATCCGATTTCAGCTGCAGC	0.692000													65	105					0	0	0.000781405	0	0
BMP5	653	broad.mit.edu	37	6	55638936	55638936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:55638936C>T	ENST00000370830.3	-	4	1636	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R313Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	313					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCACGGATCGAAGAAGTAC	0.453000													35	48					0	0	0.000491102	0	0
TMEM207	131920	broad.mit.edu	37	3	190158106	190158106	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:190158106C>A	ENST00000354905.2	-	4	297	c.231G>T	c.(229-231)ctG>ctT	p.L77L		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	77						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GGGGTCTCCTCAGCCAGCACT	0.522000													8	425					0.000157383	0.00221064	0.000157383	1	0
WNT8B	7479	broad.mit.edu	37	10	102241672	102241672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:102241672G>A	ENST00000343737.5	+	5	499	c.371G>A	c.(370-372)gGa>gAa	p.G124E		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	124					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TTTCCAGGGGGACAAGGCTGG	0.607000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	150	210					0	0	0.000781405	0	0
MGAT3	4248	broad.mit.edu	37	22	39884729	39884729	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:39884729C>T	ENST00000341184.6	+	2	1592	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	459					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCGGCCTGATCCGCACCGGGG	0.627000													115	177					0	0	0.000781405	0	0
C6orf211	79624	broad.mit.edu	37	6	151789521	151789521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:151789521G>A	ENST00000367294.3	+	5	861	c.602G>A	c.(601-603)gGa>gAa	p.G201E	C6orf211_ENST00000545879.1_Missense_Mutation_p.G82E	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	201							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CTCTCAGGTGGAGAAAGTAGT	0.353000													89	45					0	0	0.000781405	0	0
EPB41L1	2036	broad.mit.edu	37	20	34761873	34761873	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:34761873A>G	ENST00000338074.2	+	2	335	c.174A>G	c.(172-174)gaA>gaG	p.E58E	EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373941.1_Silent_p.E58E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	58					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGCCTGCTGAACAGGTGTGTG	0.607000													33	53					0	0	0.000491102	0	0
HCN1	348980	broad.mit.edu	37	5	45645578	45645578	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:45645578G>A	ENST00000303230.4	-	2	615	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	186						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						GGTCCAATAGGAAAACTGTAT	0.368000													43	43					0	0	0.000509022	0	0
OR6K2	81448	broad.mit.edu	37	1	158669637	158669637	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158669637A>C	ENST00000359610.2	-	1	849	c.806T>G	c.(805-807)tTg>tGg	p.L269W		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATCCCAGAACAAAGAGTAGGT	0.438000													29	26					0	0	0.000184323	0	0
DNAH10	196385	broad.mit.edu	37	12	124341782	124341782	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:124341782C>T	ENST00000409039.3	+	36	6289	c.6264C>T	c.(6262-6264)gtC>gtT	p.V2088V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2088	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACGCGGTCCTACCCATCC	0.507000													136	139					0	0	0.000781405	0	0
SEC24B	10427	broad.mit.edu	37	4	110442617	110442617	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:110442617C>T	ENST00000265175.5	+	14	2398	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	SEC24B_ENST00000504968.2_Silent_p.T811T|SEC24B_ENST00000399100.2_Silent_p.T746T	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	781					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACATGTTCACCAATACAAGAG	0.378000													25	116					0	0	0.000184323	0	0
PROX1	5629	broad.mit.edu	37	1	214170561	214170561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:214170561G>A	ENST00000366958.4	+	2	1291	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	PROX1_ENST00000435016.1_Missense_Mutation_p.R228Q|PROX1_ENST00000261454.4_Missense_Mutation_p.R228Q|PROX1_ENST00000498508.2_Missense_Mutation_p.R228Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	228					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.R228Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTTTCAGCCCGAAAAGAACAG	0.522000													317	263					0	0	0.000781405	0	0
ADH1C	126	broad.mit.edu	37	4	100268905	100268905	+	RNA	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:100268905A>C	ENST00000510055.1	-	0	291				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATTTCACCTTAATGCGAACTT	0.328000													41	39					0	0	0.000228196	0	0
EPHX2	2053	broad.mit.edu	37	8	27358512	27358512	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:27358512G>A	ENST00000521400.1	+	2	601	c.171G>A	c.(169-171)gaG>gaA	p.E57E	EPHX2_ENST00000518379.1_Silent_p.E57E|EPHX2_ENST00000380476.3_Silent_p.E4E|EPHX2_ENST00000521780.1_Intron|EPHX2_ENST00000517536.1_Silent_p.E57E|EPHX2_ENST00000520666.1_3'UTR	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	57	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.E57E(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGAAAGGAGAGATCACACTTT	0.522000													116	202					0	0	0.000781405	0	0
COL26A1	136227	broad.mit.edu	37	7	101183202	101183202	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:101183202C>T	ENST00000313669.7	+	0	668				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		GCAGAACGGCCCTCCAGCCCG	0.627000													81	179					0	0	0.000781405	0	0
PBRM1	55193	broad.mit.edu	37	3	52643485	52643485	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52643485A>T	ENST00000356770.4	-	15	2317	c.2315T>A	c.(2314-2316)tTa>tAa	p.L772*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.L804*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.L804*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.L804*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.L804*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.L819*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.L804*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.L819*			Q86U86	PB1_HUMAN	polybromo 1	804					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATTTCTGCTAAAGAATCGCT	0.413000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								41	75					0	0	0.000374591	0	0
IQGAP3	128239	broad.mit.edu	37	1	156533598	156533598	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156533598C>T	ENST00000361170.2	-	6	466	c.456G>A	c.(454-456)ctG>ctA	p.L152L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	152					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCCAATCCCAGCCGGAAGA	0.537000													46	166					0	0	0.000781405	0	0
MIOX	55586	broad.mit.edu	37	22	50927488	50927488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:50927488C>T	ENST00000395732.3	+	6	450	c.428C>T	c.(427-429)aCc>aTc	p.T143I	MIOX_ENST00000395733.3_Missense_Mutation_p.P154S|MIOX_ENST00000216075.6_Missense_Mutation_p.T143I			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	143					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCGGCGACACCTTCCCCGTC	0.652000													80	160					0	0	0.000781405	0	0
SWT1	54823	broad.mit.edu	37	1	185175888	185175888	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:185175888C>T	ENST00000367500.4	+	13	2130	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	SWT1_ENST00000367501.3_Silent_p.L655L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	655										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACAAAAATCTCCGTAAAGGTA	0.303000													31	30					0	0	0.000491102	0	0
SGSM1	129049	broad.mit.edu	37	22	25294154	25294154	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:25294154C>T	ENST00000400358.4	+	19	2295	c.2238C>T	c.(2236-2238)ccC>ccT	p.P746P	SGSM1_ENST00000400359.4_Silent_p.P801P	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	801	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGAACACCCCCACGGTGCTGC	0.632000													125	259					0	0	0.000781405	0	0
EPS8	2059	broad.mit.edu	37	12	15823810	15823810	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:15823810T>A	ENST00000281172.5	-	4	620	c.184A>T	c.(184-186)Ata>Tta	p.I62L	EPS8_ENST00000543523.1_Missense_Mutation_p.I62L|EPS8_ENST00000543612.1_Missense_Mutation_p.I62L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	62					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TATTGAGATATATCTGACACA	0.368000													36	42					0	0	0.000319135	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428546	128428546	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:128428546A>G	ENST00000465342.2	+	2	1592	c.435A>G	c.(433-435)gaA>gaG	p.E145E	CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.E145E|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	145	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TGCAGAAAGAACTCGAGCAAT	0.557000													29	70					0	0	0.000491102	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633253	49633253	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49633253C>T	ENST00000334186.4	+	6	935	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	PPFIA3_ENST00000602351.1_Silent_p.L196L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	196						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTTCCAGACTCTGAACCTTCG	0.607000													319	390					0	0	0.000781405	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737461	62737461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:62737461C>T	ENST00000369768.1	-	1	1063	c.724G>A	c.(724-726)Gtg>Atg	p.V242M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	242						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGGAGCCGCACGGCCCGCAGC	0.667000													99	174					0	0	0.000781405	0	0
OR5K1	26339	broad.mit.edu	37	3	98189178	98189178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:98189178G>A	ENST00000332650.5	+	1	855	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTATTCTATGGATCTCTTTTC	0.333000													28	24					0	0	0.000147802	0	0
IFNA2	3440	broad.mit.edu	37	9	21385088	21385088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:21385088C>T	ENST00000380206.2	-	1	308	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	81					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TGGATCATCTCATGGAGGACA	0.478000													138	220					0	0	0.000781405	0	0
CBS	875	broad.mit.edu	37	21	44488672	44488672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:44488672G>A	ENST00000398165.3	-	4	522	c.263C>T	c.(262-264)cCt>cTt	p.P88L	CBS_ENST00000544202.1_5'UTR|CBS_ENST00000398158.1_Missense_Mutation_p.P88L|CBS_ENST00000352178.5_Missense_Mutation_p.P88L|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398168.1_Missense_Mutation_p.P88L|CBS_ENST00000359624.3_Missense_Mutation_p.P88L	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	88			P -> S (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TCTGACCATAGGGGTGTCCCC	0.453000													1105	599					0	0	0.000781405	0	0
RIPK4	54101	broad.mit.edu	37	21	43187172	43187172	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:43187172G>A	ENST00000352483.2	-	1	94	c.30C>T	c.(28-30)gcC>gcT	p.A10A	RIPK4_ENST00000332512.3_Silent_p.A10A			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	10						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAGCGCCAGGGCCCATGGGG	0.721000													82	48					0	0	0.000781405	0	0
MAGI2	9863	broad.mit.edu	37	7	77973208	77973208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:77973208C>T	ENST00000354212.4	-	9	1548	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	MAGI2_ENST00000522391.1_Missense_Mutation_p.S432N|MAGI2_ENST00000536571.1_Missense_Mutation_p.S264N|MAGI2_ENST00000535697.1_Missense_Mutation_p.S269N|MAGI2_ENST00000419488.1_Missense_Mutation_p.S432N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	432	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCCCATGTTGCTCTTTTTTAG	0.463000													28	75					0	0	0.000878237	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337785	94337785	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:94337785C>G	ENST00000436063.2	-	5	1967	c.1910G>C	c.(1909-1911)cGa>cCa	p.R637P		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TGTTTTTTGTCGTTCTTTCTG	0.343000													138	263					0	0	0.000781405	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930493	31930493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31930493C>T	ENST00000375394.2	+	12	1327	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S212F	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	405	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTCCCCAGCTCCATGCTGTAC	0.557000													1250	1902					0	0	0.000781405	0	0
UNC13D	201294	broad.mit.edu	37	17	73838692	73838692	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:73838692A>G	ENST00000207549.4	-	6	770	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.F131L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	131	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTCGCTGAACCCTGTGGAG	0.711000									Familial Hemophagocytic Lymphohistiocytosis				194	329					0	0	0.000781405	0	0
RTL1	388015	broad.mit.edu	37	14	101349454	101349454	+	Missense_Mutation	SNP	G	G	A	rs41286560	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:101349454G>A	ENST00000534062.1	-	1	1730	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	558										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGAGTATGGGTGTGGCAGT	0.577000													95	156					0	0	0.000781405	0	0
FSCN3	29999	broad.mit.edu	37	7	127235623	127235623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:127235623G>A	ENST00000265825.5	+	2	626	c.407G>A	c.(406-408)tGg>tAg	p.W136*	FSCN3_ENST00000420086.2_Nonsense_Mutation_p.W2*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	136						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TACCACATGTGGACCCCCCGA	0.592000													138	216					0	0	0.000781405	0	0
DDX60	55601	broad.mit.edu	37	4	169197322	169197322	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:169197322C>T	ENST00000393743.3	-	15	2280	c.1989G>A	c.(1987-1989)acG>acA	p.T663T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	663							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTAAATCTTTCGTGGTTTTAC	0.328000													59	19					0	0	0.000781405	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019245	27019245	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:27019245C>T	ENST00000354760.3	+	3	122	c.87C>T	c.(85-87)ttC>ttT	p.F29F	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	29	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCACGAGTTCACGGCCGAGT	0.592000													160	271					0	0	0.000781405	0	0
GREB1	9687	broad.mit.edu	37	2	11758670	11758670	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:11758670C>T	ENST00000381486.2	+	22	3969	c.3669C>T	c.(3667-3669)tcC>tcT	p.S1223S	GREB1_ENST00000234142.5_Silent_p.S1223S|GREB1_ENST00000396123.1_Silent_p.S221S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1223	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCAGCTGTCCTCCTCCTCGG	0.711000													125	177					0	0	0.000781405	0	0
FAM47C	442444	broad.mit.edu	37	X	37028253	37028253	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:37028253G>A	ENST00000358047.3	+	1	1822	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	590										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						CCAAGACTCGGGTGTCCAGTC	0.652000													165	49					0	0	0.000781405	0	0
MSTN	2660	broad.mit.edu	37	2	190922180	190922180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:190922180C>T	ENST00000260950.4	-	3	1064	c.932G>A	c.(931-933)gGa>gAa	p.G311E	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	311					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTCACACTCTCCAGAGCAGTA	0.428000													36	51					0	0	0.000491102	0	0
ARAP2	116984	broad.mit.edu	37	4	36230295	36230295	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:36230295T>C	ENST00000303965.4	-	2	1303	c.814A>G	c.(814-816)Agc>Ggc	p.S272G		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	272					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACCAACTTGCTACGACTTCTC	0.428000													5	120					0	0	0.000602214	0	0
LINC00969	440993	broad.mit.edu	37	3	195400727	195400727	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195400727C>T	ENST00000445430.1	+	0	1323																											AGATTGTGCCCAGCCTGTACG	0.587000													8	281					0	0	0.000157383	0	0
FPR1	2357	broad.mit.edu	37	19	52250226	52250226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52250226G>A	ENST00000595042.1	-	3	163	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	FPR1_ENST00000304748.4_Missense_Mutation_p.P8S	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	8					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ATGTTCGTGGGGAGAGAGGAA	0.493000													6	14					0	0	3.59834e-05	0	0
ABCD1	215	broad.mit.edu	37	X	153008675	153008675	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:153008675G>A	ENST00000218104.3	+	9	2265	c.1865_splice	c.e9-1	p.R622_splice	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	622	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCCCAGGCCCAAGTACG	0.672000													5	118					0	0	0.000295444	0	0
TADA3	10474	broad.mit.edu	37	3	9833129	9833129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:9833129G>A	ENST00000343450.2	-	2	569	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	TADA3_ENST00000301964.2_Missense_Mutation_p.P8S|TADA3_ENST00000492635.1_Intron|TADA3_ENST00000440161.1_Missense_Mutation_p.P8S	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	8					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						AACTGCAAGGGGCAGTCTTTC	0.562000													82	199					0	0	0.000781405	0	0
SYTL2	54843	broad.mit.edu	37	11	85420485	85420485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:85420485C>T	ENST00000359152.5	-	6	4426	c.4427G>A	c.(4426-4428)gGa>gAa	p.G1476E	SYTL2_ENST00000527523.1_Missense_Mutation_p.G598E|SYTL2_ENST00000525423.1_Missense_Mutation_p.G952E|SYTL2_ENST00000316356.4_Missense_Mutation_p.G631E|SYTL2_ENST00000528231.1_Missense_Mutation_p.G630E|SYTL2_ENST00000525702.1_Missense_Mutation_p.G72E|SYTL2_ENST00000389958.3_Missense_Mutation_p.G61E|SYTL2_ENST00000389960.4_Missense_Mutation_p.G606E|SYTL2_ENST00000524452.1_Missense_Mutation_p.G606E|SYTL2_ENST00000533892.1_Missense_Mutation_p.G32E|SYTL2_ENST00000354566.3_Missense_Mutation_p.G968E|SYTL2_ENST00000529581.1_Missense_Mutation_p.G72E	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	630					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTGAATATTTCCTTTAACTTC	0.398000													51	152					0	0	0.000781405	0	0
FLT4	2324	broad.mit.edu	37	5	180056259	180056259	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:180056259C>T	ENST00000261937.6	-	7	1063	c.985_splice	c.e7+1	p.E329_splice	FLT4_ENST00000393347.3_Splice_Site_p.E329_splice|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Splice_Site_p.E329_splice	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	329					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCCATACCATGCACAATG	0.622000													188	199					0	0	0.000781405	0	0
ILDR2	387597	broad.mit.edu	37	1	166926004	166926004	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:166926004C>T	ENST00000271417.3	-	3	520	c.465G>A	c.(463-465)ggG>ggA	p.G155G	ILDR2_ENST00000525740.1_Silent_p.G155G|ILDR2_ENST00000529071.1_Silent_p.G155G|ILDR2_ENST00000529387.1_Silent_p.G155G|ILDR2_ENST00000469934.2_Silent_p.G155G|ILDR2_ENST00000528703.1_Silent_p.G155G|ILDR2_ENST00000526687.1_Silent_p.G155G	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	155	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCTCATTTTTCCCCTCCAGGT	0.438000													246	209					0	0	0.000781405	0	0
SALL3	27164	broad.mit.edu	37	18	76753692	76753692	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:76753692C>T	ENST00000536229.3	+	1	2011	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	SALL3_ENST00000575389.2_Silent_p.S567S|SALL3_ENST00000537592.2_Silent_p.S567S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCTCCTTGTCCCCAGGCCTCA	0.746000													35	80					0	0	0.000814825	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													16	273					0	0	0.00074312	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521665	64521665	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:64521665C>T	ENST00000355086.3	+	21	3089	c.2565C>T	c.(2563-2565)ccC>ccT	p.P855P	SRGAP1_ENST00000357825.3_Silent_p.P832P|SRGAP1_ENST00000543397.1_Silent_p.P792P	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	855	Poly-Pro.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GAGAGCCACCCCCTCCAGTAA	0.562000													106	147					0	0	0.000781405	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782229	62782229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62782229C>T	ENST00000336232.2	-	2	337	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G68R|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G68R|SLC22A8_ENST00000545207.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	68					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCAGGCTTCCCATTTGGGCCC	0.632000													545	598					0	0	0.000781405	0	0
PDE4B	5142	broad.mit.edu	37	1	66838170	66838170	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:66838170C>T	ENST00000423207.2	+	15	2460	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L	PDE4B_ENST00000480109.2_Silent_p.L441L|PDE4B_ENST00000329654.4_Silent_p.L674L|PDE4B_ENST00000371045.5_Silent_p.L502L|PDE4B_ENST00000371049.3_Silent_p.L674L	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	674					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTGCCAGGGTCTGATGGAGAA	0.488000													19	27					0	0	0.00074312	0	0
GPR98	84059	broad.mit.edu	37	5	90144634	90144634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:90144634G>A	ENST00000405460.2	+	79	17296	c.17200G>A	c.(17200-17202)Gaa>Aaa	p.E5734K	GPR98_ENST00000425867.2_Missense_Mutation_p.E1395K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5734					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTCCTGGTGAAAAGTAAGT	0.363000													183	187					0	0	0.000781405	0	0
CYP2A6	1548	broad.mit.edu	37	19	41354552	41354552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41354552C>T	ENST00000301141.5	-	3	480	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	154					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ATGAGGAAGCCCGCCTCCTCC	0.716000													12	590					0	0	0.000375601	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38350012	38350012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38350012C>T	ENST00000436615.3	+	15	1833	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.S503F|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S497F|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S448F	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	654	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TTCGAGCTCTCCTACAAGCTG	0.567000													202	311					0	0	0.000781405	0	0
TGM3	7053	broad.mit.edu	37	20	2315831	2315831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2315831G>A	ENST00000381458.5	+	11	1775	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	571					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AACATGATCCGGATCACAGCG	0.552000													89	141					0	0	0.000781405	0	0
ARF6	382	broad.mit.edu	37	14	50360931	50360931	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:50360931G>A	ENST00000298316.5	+	2	1024	c.477G>A	c.(475-477)ggG>ggA	p.G159G		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	159					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CCACCTCAGGGGACGGACTCT	0.532000													107	176					0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104149490	104149490	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:104149490C>T	ENST00000388887.2	+	63	7185	c.6981C>T	c.(6979-6981)ttC>ttT	p.F2327F	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2327	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCACAAACTTCCTGACGGTAT	0.547000													86	79					0	0	0.000781405	0	0
FAM159A	348378	broad.mit.edu	37	1	53108537	53108537	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:53108537T>A	ENST00000517870.1	+	2	335	c.185T>A	c.(184-186)aTt>aAt	p.I62N	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	62						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CTTCCCAGCATTGGCGCTCTC	0.527000													525	783					0	0	0.000781405	0	0
MVP	9961	broad.mit.edu	37	16	29841948	29841948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:29841948C>T	ENST00000452209.2	+	2	172	c.29C>T	c.(28-30)cCc>cTc	p.P10L	CTD-2574D22.6_ENST00000562285.1_3'UTR|MVP_ENST00000566554.1_3'UTR|MVP_ENST00000395353.1_Silent_p.S26S|MVP_ENST00000357402.5_Silent_p.S26S			Q14764	MVP_HUMAN	major vault protein	0					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCAACGTGTCCCGTGTGGAGG	0.592000													174	301					0	0	0.000781405	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988522	36988522	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:36988522G>C	ENST00000518149.1	-	2	646	c.41C>G	c.(40-42)tCt>tGt	p.S14C	NKX2-1_ENST00000522719.2_Missense_Mutation_p.S14C|NKX2-1-AS1_ENST00000521292.2_RNA|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.S14C|NKX2-1_ENST00000354822.5_Missense_Mutation_p.S44C			P43699	NKX21_HUMAN	NK2 homeobox 1	14					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CAAGATGTCAGACACTGAGAA	0.617000			A		NSCLC								7	298					0	0	8.12818e-05	0	0
ATR	545	broad.mit.edu	37	3	142180908	142180908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:142180908G>A	ENST00000350721.4	-	42	7187	c.7066C>T	c.(7066-7068)Cgt>Tgt	p.R2356C	ATR_ENST00000383101.3_Missense_Mutation_p.R2292C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2356	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTCTTCTACGAGACTCTGCA	0.294000								Other conserved DNA damage response genes					149	275					0	0	0.000781405	0	0
ZBBX	79740	broad.mit.edu	37	3	167051674	167051674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:167051674C>T	ENST00000392766.2	-	10	968	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZBBX_ENST00000455345.2_Missense_Mutation_p.E210K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E210K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E210K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.E181K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	210						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTACTGGTTTCCTTTGTAGAA	0.348000													13	21					0	0	0.00010058	0	0
NOMO2	283820	broad.mit.edu	37	16	18554963	18554963	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:18554963G>A	ENST00000330537.6	-	7	881	c.711C>T	c.(709-711)ctC>ctT	p.L237L	NOMO2_ENST00000543392.1_Silent_p.L70L|NOMO2_ENST00000381474.3_Silent_p.L237L	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	237						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						AAGAAGAAAAGAGAAGAAACT	0.463000													160	285					0	0	0.000781405	0	0
SPEG	10290	broad.mit.edu	37	2	220355197	220355197	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220355197C>T	ENST00000312358.7	+	37	9120	c.8988C>T	c.(8986-8988)atC>atT	p.I2996I	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2996	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGCCAAGATCGTGCCCTATG	0.672000													197	292					0	0	0.000781405	0	0
PRKAG3	53632	broad.mit.edu	37	2	219696075	219696075	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219696075C>T	ENST00000529249.1	-	2	372	c.57G>A	c.(55-57)ggG>ggA	p.G19G	PRKAG3_ENST00000439262.2_5'UTR|PRKAG3_ENST00000392098.3_Silent_p.G19G|PRKAG3_ENST00000545803.1_5'UTR			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	19					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCAGAACCCCCAAGGCTGC	0.587000													90	168					0	0	0.000781405	0	0
AMN	81693	broad.mit.edu	37	14	103395162	103395162	+	Silent	SNP	G	G	A	rs141455061	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:103395162G>A	ENST00000299155.5	+	5	396	c.363G>A	c.(361-363)ggG>ggA	p.G121G		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	121					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCGCTCTGGGGACGAGGCAC	0.677000													98	177					0	0	0.000781405	0	0
KMT2D	8085	broad.mit.edu	37	12	49421018	49421018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:49421018G>A	ENST00000301067.7	-	48	14730	c.14731C>T	c.(14731-14733)Cct>Tct	p.P4911S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGTTCTTCAGGAGGTGGGGCC	0.627000													245	718					0	0	0.000781405	0	0
LRIG2	9860	broad.mit.edu	37	1	113661932	113661932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:113661932C>T	ENST00000361127.4	+	17	2956	c.2758C>T	c.(2758-2760)Cca>Tca	p.P920S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	920						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAATACTGTCCATACACCTA	0.448000													160	237					0	0	0.000781405	0	0
CCR3	1232	broad.mit.edu	37	3	46307643	46307643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46307643C>T	ENST00000357422.2	+	4	1537	c.994C>T	c.(994-996)Cct>Tct	p.P332S	CCR3_ENST00000545097.1_Missense_Mutation_p.P353S|CCR3_ENST00000541018.1_Missense_Mutation_p.P332S|CCR3_ENST00000395942.2_Missense_Mutation_p.P332S|CCR3_ENST00000395940.2_Missense_Mutation_p.P332S			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	332					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CCCATTCCTTCCTAGTGAGAA	0.502000													14	30					0	0	0.000308642	0	0
PSG7	5676	broad.mit.edu	37	19	43428838	43428838	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:43428838G>A	ENST00000406070.2	-	0	1478					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tcaggtacaaggattttccca	0.423000													45	54					0	0	0.000781405	0	0
RNF19B	127544	broad.mit.edu	37	1	33402777	33402777	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:33402777T>C	ENST00000373456.7	-	9	1828	c.1829A>G	c.(1828-1830)gAc>gGc	p.D610G	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.D609G	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	610						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATGGAGCGAGTCCTCCGTGCT	0.507000													11	584					0	0	0.000673444	0	0
AC096579.13	0	broad.mit.edu	37	2	89160052	89160052	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:89160052C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							ACCCAAATTTCAGAAGACAAT	0.383000													88	145					0	0	0.000781405	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189214	103189214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:103189214G>A	ENST00000424970.2	-	7	1178	c.863C>T	c.(862-864)tCa>tTa	p.S288L	SLC39A8_ENST00000356736.4_Missense_Mutation_p.S288L|SLC39A8_ENST00000394833.2_Missense_Mutation_p.S288L	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	288						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACAGGTACATGAACTTGGCTC	0.433000													40	160					0	0	0.000509022	0	0
ZNF121	7675	broad.mit.edu	37	19	9677121	9677121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9677121G>A	ENST00000586602.1	-	6	1084	c.668C>T	c.(667-669)aCt>aTt	p.T223I	ZNF121_ENST00000320451.6_Missense_Mutation_p.T223I			P58317	ZN121_HUMAN	zinc finger protein 121	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CTTCTCTCCAGTGTGTATTCG	0.413000													46	86					0	0	0.000680045	0	0
DGKH	160851	broad.mit.edu	37	13	42769039	42769039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:42769039C>T	ENST00000379274.2	+	17	2075	c.1646C>T	c.(1645-1647)tCt>tTt	p.S549F	DGKH_ENST00000337343.4_Missense_Mutation_p.S685F|DGKH_ENST00000261491.4_Missense_Mutation_p.S685F|DGKH_ENST00000540693.1_Missense_Mutation_p.S685F|DGKH_ENST00000538674.1_Missense_Mutation_p.S440F|DGKH_ENST00000536612.1_Missense_Mutation_p.S549F|DGKH_ENST00000498255.2_3'UTR			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	685					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCACCTCGGTCTCCAGATGCC	0.418000													34	60					0	0	0.000228196	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795722	68795722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:68795722C>T	ENST00000508048.1	-	5	389	c.354G>A	c.(352-354)atG>atA	p.M118I	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.M122I|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.M119I|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	122	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ACTGGAACACCATAATGACAT	0.388000													195	149					0	0	0.000781405	0	0
TRPC6	7225	broad.mit.edu	37	11	101375371	101375371	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:101375371T>C	ENST00000344327.3	-	2	753	c.329A>G	c.(328-330)aAc>aGc	p.N110S	TRPC6_ENST00000360497.4_Missense_Mutation_p.N110S|TRPC6_ENST00000532133.1_Missense_Mutation_p.N110S|TRPC6_ENST00000348423.4_Missense_Mutation_p.N110S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	110					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CACTGGGATGTTACCATATTC	0.468000													34	53					0	0	0.000409698	0	0
SPAG17	200162	broad.mit.edu	37	1	118534050	118534050	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:118534050G>A	ENST00000336338.5	-	37	5528	c.5463C>T	c.(5461-5463)ctC>ctT	p.L1821L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1821						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACCAGCTTGAGGAGATCAG	0.363000													10	16					0	0	0.000673444	0	0
STAG2	10735	broad.mit.edu	37	X	123220440	123220440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:123220440C>T	ENST00000371160.1	+	30	3387	c.3097C>T	c.(3097-3099)Cga>Tga	p.R1033*	STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1033*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R964*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1033*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1033*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1033*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1033					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCACTCCGAAGAGAGGA	0.413000													37	12					0	0	0.000228196	0	0
SLC22A4	6583	broad.mit.edu	37	5	131671556	131671556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:131671556G>A	ENST00000200652.3	+	8	1481	c.1307G>A	c.(1306-1308)gGg>gAg	p.G436E	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	436					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GGAAAATTTGGGATCACCTCT	0.468000													124	177					0	0	0.000781405	0	0
PCSK6	5046	broad.mit.edu	37	15	101906469	101906469	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:101906469T>C	ENST00000348070.1	-	14	1786	c.1787A>G	c.(1786-1788)aAg>aGg	p.K596R	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.K596R|PCSK6_ENST00000344273.2_Missense_Mutation_p.K596R|PCSK6_ENST00000398181.2_Missense_Mutation_p.K596R|PCSK6_ENST00000331826.7_Missense_Mutation_p.K431R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	597	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTTCAGCCTTTTCTCCCCA	0.507000													4	290					0	0	0.000602214	0	0
SPESP1	246777	broad.mit.edu	37	15	69238433	69238433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:69238433G>A	ENST00000310673.3	+	2	714	c.560G>A	c.(559-561)aGc>aAc	p.S187N	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	187					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTAGATAAGAGCACTGGCATT	0.433000													113	179					0	0	0.000781405	0	0
STEAP2	261729	broad.mit.edu	37	7	89854414	89854414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:89854414G>A	ENST00000287908.3	+	2	411	c.18G>A	c.(16-18)atG>atA	p.M6I	STEAP2_ENST00000394629.2_Missense_Mutation_p.M6I|STEAP2_ENST00000394622.2_Missense_Mutation_p.M6I|STEAP2_ENST00000394626.1_Missense_Mutation_p.M6I|STEAP2_ENST00000402625.2_Missense_Mutation_p.M6I|STEAP2_ENST00000394632.1_Missense_Mutation_p.M6I|STEAP2_ENST00000394621.2_Missense_Mutation_p.M6I	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	6					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAATCTCTATGATGGGAAGCC	0.393000													93	169					0	0	0.000781405	0	0
EPPK1	83481	broad.mit.edu	37	8	144945398	144945398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:144945398G>A	ENST00000525985.1	-	2	2095	c.2024C>T	c.(2023-2025)cCt>cTt	p.P675L				P58107	EPIPL_HUMAN	epiplakin 1	675						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAACACATCAGGCCCAATGAC	0.592000													136	221					0	0	0.000781405	0	0
CIITA	4261	broad.mit.edu	37	16	11001684	11001684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:11001684G>A	ENST00000324288.8	+	11	2468	c.2335G>A	c.(2335-2337)Gct>Act	p.A779T	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	779					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCCATCGGCGGCTGCCTCGGT	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								263	410					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179530116	179530116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179530116G>A	ENST00000589042.1	-	165	36255	c.36031C>T	c.(36031-36033)Cca>Tca	p.P12011S	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10157	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATACGTGGAGTTTCTGGC	0.353000													31	53					0	0	0.00058488	0	0
DYTN	391475	broad.mit.edu	37	2	207527786	207527786	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:207527786G>C	ENST00000452335.2	-	11	1590	c.1474C>G	c.(1474-1476)Ccc>Gcc	p.P492A		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	492						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACCATTTTGGGGATGTCCTGC	0.502000													24	53					0	0	0.000295444	0	0
AFM	173	broad.mit.edu	37	4	74357752	74357752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:74357752G>A	ENST00000226355.3	+	8	1100	c.1007G>A	c.(1006-1008)aGt>aAt	p.S336N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	336	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTACTGACAGTGAAAATGTG	0.353000													39	27					0	0	0.000509022	0	0
NBEA	26960	broad.mit.edu	37	13	36241522	36241522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:36241522C>T	ENST00000540320.1	+	56	8947	c.8413C>T	c.(8413-8415)Ctt>Ttt	p.L2805F	NBEA_ENST00000379922.3_Missense_Mutation_p.L383F|NBEA_ENST00000537702.1_Missense_Mutation_p.L598F|NBEA_ENST00000310336.4_Missense_Mutation_p.L2805F|NBEA_ENST00000379939.2_Missense_Mutation_p.L2802F|NBEA_ENST00000400445.3_Missense_Mutation_p.L2805F			Q8NFP9	NBEA_HUMAN	neurobeachin	2805						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGGCCCTTGCCTTGTCCACAC	0.527000													104	192					0	0	0.000781405	0	0
MIR548H4	100313884	broad.mit.edu	37	8	26906400	26906400	+	RNA	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:26906400T>C	ENST00000408689.1	-	0	80					NR_031680.1																						caaaagtaattgcggtttttg	0.308000													3	16					0	0	0.00024832	0	0
RBL1	5933	broad.mit.edu	37	20	35668680	35668680	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:35668680G>A	ENST00000373664.3	-	14	1845	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	RBL1_ENST00000344359.3_Silent_p.F593F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	593	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGTTATTTGGGAATATAACCT	0.333000													61	99					0	0	0.000781405	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134505629	134505629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:134505629G>A	ENST00000372195.1	-	6	977	c.734C>T	c.(733-735)cCt>cTt	p.P245L	RAPGEF1_ENST00000481260.1_Intron|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.P246L|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.P228L			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	228					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTACCCATCAGGCTTGCTGGC	0.612000													111	64					0	0	0.000781405	0	0
SIRT3	23410	broad.mit.edu	37	11	230548	230548	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:230548C>A	ENST00000382743.4	-	4	813	c.711G>T	c.(709-711)tcG>tcT	p.S237S	SIRT3_ENST00000532956.1_Silent_p.S237S|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000525319.1_Silent_p.S156S|SIRT3_ENST00000529382.1_Silent_p.S95S|SIRT3_ENST00000524564.1_Silent_p.S173S	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	237	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CAGGGATGCCCGACACTGAAA	0.572000													8	403					0.000157383	0.00221064	0.000157383	1	0
ACTN3	89	broad.mit.edu	37	11	66328765	66328765	+	RNA	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:66328765A>T	ENST00000502692.1	+	0	2173				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGGTAAACGAGAGGCTCCGG	0.637000													65	90					0	0	0.000781405	0	0
RIPK2	8767	broad.mit.edu	37	8	90777694	90777694	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:90777694T>A	ENST00000220751.4	+	3	767	c.453T>A	c.(451-453)aaT>aaA	p.N151K	RIPK2_ENST00000540020.1_Missense_Mutation_p.N14K	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	151	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AGACTCAGAATATCTTATTGG	0.313000													131	239					0	0	0.000781405	0	0
FOXO1	2308	broad.mit.edu	37	13	41134072	41134072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:41134072G>A	ENST00000379561.5	-	2	1940	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	519					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		ATGGGAGCTGGGATTCATCAT	0.572000													150	185					0	0	0.000781405	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477280	110477280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:110477280C>T	ENST00000378402.5	+	49	8323	c.8219C>T	c.(8218-8220)tCt>tTt	p.S2740F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2740					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTGTCTCTTCTGTGCACTTT	0.478000										HNSCC(38;0.096)			22	45					0	0	0.000175454	0	0
BSG	682	broad.mit.edu	37	19	577991	577991	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:577991C>T	ENST00000333511.3	+	2	355	c.285C>T	c.(283-285)atC>atT	p.I95I	BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	95					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCATCTCCATCGACACGCTCG	0.692000													131	181					0	0	0.000781405	0	0
ZFP64	55734	broad.mit.edu	37	20	50715040	50715040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:50715040G>A	ENST00000361387.2	-	6	910	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	ZFP64_ENST00000371518.2_Missense_Mutation_p.P284S|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371523.4_Missense_Mutation_p.P65S	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTCTGAGGGAAGAGTGATG	0.512000													192	305					0	0	0.000781405	0	0
SPATA25	128497	broad.mit.edu	37	20	44515309	44515309	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:44515309C>T	ENST00000372519.3	-	2	575	c.531G>A	c.(529-531)ctG>ctA	p.L177L		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	177						integral to membrane											CGGCCCAGATCAGGTCCTCTT	0.647000													295	455					0	0	0.000781405	0	0
FAM50A	9130	broad.mit.edu	37	X	153678615	153678615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:153678615C>T	ENST00000393600.3	+	12	1069	c.959C>T	c.(958-960)cCc>cTc	p.P320L		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	320					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	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)					CACATCTTTCCCGCCAGCCGC	0.627000													387	113					0	0	0.000781405	0	0
DPYD	1806	broad.mit.edu	37	1	97981290	97981290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:97981290G>A	ENST00000370192.3	-	13	1832	c.1732C>T	c.(1732-1734)Ctt>Ttt	p.L578F		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	578					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCTTATCAAGAGAGAAAGTT	0.333000													9	25					0	0	0.000673444	0	0
GPR146	115330	broad.mit.edu	37	7	1097781	1097781	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:1097781C>T	ENST00000397095.1	+	2	853	c.630C>T	c.(628-630)ctC>ctT	p.L210L	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|GPR146_ENST00000297468.3_Silent_p.L210L|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|RP11-449P15.1_ENST00000549241.1_RNA			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	210						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGGTGCTACTCTCCCGCGTCC	0.682000													59	105					0	0	0.000781405	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064812	63064812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:63064812C>T	ENST00000544661.1	+	4	507	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Nonsense_Mutation_p.Q182*|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	182						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGTTTGCTCCAGCTTGCCAT	0.418000													19	16					0	0	0.000229342	0	0
APOF	319	broad.mit.edu	37	12	56755814	56755814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56755814G>A	ENST00000398189.3	-	2	253	c.176C>T	c.(175-177)tCc>tTc	p.S59F	APOF_ENST00000541105.1_Missense_Mutation_p.S41F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	59					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGGGTCTGAGGAGGGTGTCTG	0.527000													323	420					0	0	0.000781405	0	0
FAM47C	442444	broad.mit.edu	37	X	37027311	37027311	+	Silent	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:37027311G>C	ENST00000358047.3	+	1	880	c.828G>C	c.(826-828)ggG>ggC	p.G276G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	276										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						AGCCTCCTGGGACTGGAGTGT	0.612000													195	65					0	0	0.000781405	0	0
NCR2	9436	broad.mit.edu	37	6	41304018	41304018	+	Silent	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41304018A>C	ENST00000373083.4	+	2	468	c.246A>C	c.(244-246)acA>acC	p.T82T	NCR2_ENST00000373089.5_Silent_p.T82T|NCR2_ENST00000373086.3_Silent_p.T82T	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	82	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTCGATTCACAATCTGGGACG	0.522000													53	105					0	0	0.000781405	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622810	74622810	+	Missense_Mutation	SNP	C	C	A	rs138031739	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:74622810C>A	ENST00000156626.7	-	5	1433	c.1234G>T	c.(1234-1236)Ggc>Tgc	p.G412C		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	412					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCGGTAAAGCCGTAGAAGGAT	0.532000													15	2745					0	0	6.4e-05	1	0
PGBD1	84547	broad.mit.edu	37	6	28268620	28268620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:28268620C>T	ENST00000405948.2	+	7	1409	c.989C>T	c.(988-990)tCc>tTc	p.S330F	PGBD1_ENST00000259883.3_Missense_Mutation_p.S330F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	330					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CACATCTCATCCCTGGAATAT	0.488000													41	79					0	0	0.000374591	0	0
SPAG17	200162	broad.mit.edu	37	1	118548079	118548079	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:118548079C>T	ENST00000336338.5	-	32	4799	c.4734G>A	c.(4732-4734)gaG>gaA	p.E1578E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1578						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACAGATAACCTCTGAAGTAT	0.453000													15	31					0	0	0.000422831	0	0
HDC	3067	broad.mit.edu	37	15	50555448	50555448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:50555448C>T	ENST00000267845.3	-	2	590	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HDC_ENST00000543581.1_Missense_Mutation_p.R63Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATGATGATTCGTTCAATGTC	0.597000													118	196					0	0	0.000781405	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565294	48565294	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:48565294G>A	ENST00000354276.3	-	14	1545	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000601950.1_RNA|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000599111.1_Silent_p.L416L|PLA2G4C_ENST00000599921.1_Silent_p.L406L|PLA2G4C_ENST00000413144.2_Silent_p.L406L	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	406	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGGAGAGGATGAGGTGAACCT	0.607000													153	228					0	0	0.000781405	0	0
OAS3	4940	broad.mit.edu	37	12	113386888	113386888	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113386888C>A	ENST00000228928.7	+	6	1431	c.1252C>A	c.(1252-1254)Cgc>Agc	p.R418S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	418	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	p.R418S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGAGCTGGACCGCTTCATCCA	0.607000													5	184					0.000602214	0.00835775	0.000602214	1	0
CYP2B6	1555	broad.mit.edu	37	19	41518286	41518286	+	Missense_Mutation	SNP	G	G	A	rs45466193		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41518286G>A	ENST00000324071.4	+	7	1055	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	CYP2B6_ENST00000330446.5_Missense_Mutation_p.E150K|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E114K	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	350					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GCCATACACAGAGGCAGTCAT	0.512000													62	92					0	0	0.000781405	0	0
ELF2	1998	broad.mit.edu	37	4	139983140	139983140	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:139983140T>C	ENST00000394235.2	-	8	1151	c.649A>G	c.(649-651)Aaa>Gaa	p.K217E	ELF2_ENST00000379550.1_Missense_Mutation_p.K229E|ELF2_ENST00000265495.4_Missense_Mutation_p.K217E|ELF2_ENST00000358635.3_Missense_Mutation_p.K169E|ELF2_ENST00000510408.1_Missense_Mutation_p.K157E|ELF2_ENST00000379549.2_Missense_Mutation_p.K140E	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	229					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGAGTCCATTTAATATACCTG	0.353000													27	107					0	0	0.000184323	0	0
LRRC66	339977	broad.mit.edu	37	4	52861761	52861761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:52861761C>T	ENST00000343457.3	-	4	1433	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	476						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTGCTCCTTCCCAGAGTTCT	0.547000													17	86					0	0	0.000566183	0	0
ZNF274	10782	broad.mit.edu	37	19	58718409	58718409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:58718409G>A	ENST00000326804.4	+	6	1036	c.577G>A	c.(577-579)Gca>Aca	p.A193T	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.A88T|ZNF274_ENST00000345813.3_Missense_Mutation_p.A161T	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	194	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACAGCCTAAGGCACGCTCCAA	0.617000													66	103					0	0	0.000781405	0	0
UGGT2	55757	broad.mit.edu	37	13	96589279	96589279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:96589279C>T	ENST00000376747.3	-	17	1946	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	626					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTAAAGGGTTCACCATTATAA	0.328000													221	411					0	0	0.000781405	0	0
HTR1D	3352	broad.mit.edu	37	1	23520573	23520573	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:23520573A>T	ENST00000374619.1	-	1	649	c.140T>A	c.(139-141)gTc>gAc	p.V47D	HTR1D_ENST00000314113.3_Missense_Mutation_p.V47D	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	47					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGTGTGATGACGGAAAGGAC	0.572000													170	304					0	0	0.000781405	0	0
ATG2A	23130	broad.mit.edu	37	11	64669437	64669437	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64669437G>A	ENST00000421419.2	-	29	4236	c.4122C>T	c.(4120-4122)atC>atT	p.I1374I	ATG2A_ENST00000377264.3_Silent_p.I1372I			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1372							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACGCACCGGGATGCCCAGGC	0.607000													204	298					0	0	0.000781405	0	0
RET	5979	broad.mit.edu	37	10	43617398	43617398	+	Missense_Mutation	SNP	G	G	A	rs78347871		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:43617398G>A	ENST00000355710.3	+	16	2967	c.2735G>A	c.(2734-2736)cGg>cAg	p.R912Q	RET_ENST00000340058.5_Missense_Mutation_p.R912Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	912	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R912L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTTTAGGGTCGGATTCCAGTT	0.453000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				272	643					0	0	0.000781405	0	0
ASPM	259266	broad.mit.edu	37	1	197071299	197071299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:197071299G>A	ENST00000367409.4	-	18	7338	c.7082C>T	c.(7081-7083)tCc>tTc	p.S2361F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2361	IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATCACAACGGAGGCCTGTTT	0.458000													19	49					0	0	0.000958276	0	0
ABCD3	5825	broad.mit.edu	37	1	94955483	94955483	+	Missense_Mutation	SNP	C	C	T	rs148848670		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:94955483C>T	ENST00000370214.4	+	15	1298	c.1274C>T	c.(1273-1275)cCc>cTc	p.P425L	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.P315L|ABCD3_ENST00000536817.1_Missense_Mutation_p.P352L|ABCD3_ENST00000454898.2_Missense_Mutation_p.P449L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	425					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P425H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CAAGTCATTCCCTTGATACCT	0.323000													21	55					0	0	0.000229342	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539837	120539837	+	Silent	SNP	T	T	C	rs141216934	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:120539837T>C	ENST00000256646.2	-	4	753	c.534A>G	c.(532-534)aaA>aaG	p.K178K	NOTCH2_ENST00000602566.1_Silent_p.K139K	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	178	EGF-like 4.				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			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)		CAGTCTCACATTTCTGCCCTG	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				6	411					0	0	6.40141e-05	0	0
ZNF607	84775	broad.mit.edu	37	19	38190356	38190356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:38190356C>T	ENST00000355202.4	-	5	1271	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.E225K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCCTTACATTCGTAGGGTTTC	0.418000													120	234					0	0	0.000781405	0	0
C14orf39	317761	broad.mit.edu	37	14	60921820	60921820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:60921820C>T	ENST00000321731.3	-	16	1561	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	468										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CCAGGGGATTCCTTTTCTGTT	0.294000													13	34					0	0	0.000308642	0	0
SDAD1	55153	broad.mit.edu	37	4	76896914	76896914	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:76896914G>A	ENST00000356260.5	-	6	679	c.561C>T	c.(559-561)ctC>ctT	p.L187L	SDAD1_ENST00000395711.4_Silent_p.L150L	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	187					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCCTTCTGTAGAGTTCAATCA	0.343000													36	142					0	0	0.000228196	0	0
FGFR2	2263	broad.mit.edu	37	10	123256077	123256077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:123256077G>A	ENST00000358487.5	-	13	2104	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	FGFR2_ENST00000478859.1_Missense_Mutation_p.A383V|FGFR2_ENST00000357555.5_Missense_Mutation_p.A522V|FGFR2_ENST00000457416.2_Missense_Mutation_p.A612V|FGFR2_ENST00000369056.1_Missense_Mutation_p.A612V|FGFR2_ENST00000351936.6_Missense_Mutation_p.A609V|FGFR2_ENST00000369059.1_Missense_Mutation_p.A497V|FGFR2_ENST00000369061.4_Missense_Mutation_p.A499V|FGFR2_ENST00000360144.3_Missense_Mutation_p.A523V|FGFR2_ENST00000369060.4_Missense_Mutation_p.A495V|FGFR2_ENST00000346997.2_Missense_Mutation_p.A609V|FGFR2_ENST00000356226.4_Missense_Mutation_p.A494V	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	611	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CATGCCTCTGGCCAGCTGGTA	0.493000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				155	354					0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	122001056	122001056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122001056C>T	ENST00000498619.1	+	6	2173	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	CASR_ENST00000296154.5_Missense_Mutation_p.P569S|CASR_ENST00000490131.1_Missense_Mutation_p.P569S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	569					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTGGAGTGTCCTGATGGGGA	0.602000													299	530					0	0	0.000781405	0	0
LUZP2	338645	broad.mit.edu	37	11	25004772	25004772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:25004772C>T	ENST00000533227.1	+	9	727	c.440C>T	c.(439-441)cCa>cTa	p.P147L	LUZP2_ENST00000336930.6_Missense_Mutation_p.P233L	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	233						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACATCAAATCCAACTCGGATG	0.453000													18	25					0	0	0.00074312	0	0
PVRL4	81607	broad.mit.edu	37	1	161046224	161046224	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:161046224G>A	ENST00000368012.3	-	4	1074	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	PVRL4_ENST00000453926.2_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	258	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGTGCCACAGATTTTGGTCT	0.547000													606	442					0	0	0.000781405	0	0
NME7	29922	broad.mit.edu	37	1	169267912	169267912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:169267912C>T	ENST00000367811.3	-	6	786	c.530G>A	c.(529-531)gGa>gAa	p.G177E	NME7_ENST00000472647.1_Missense_Mutation_p.G141E|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	177					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GTTTGCAGGTCCCAGCAGTCT	0.443000													25	66					0	0	0.000375601	0	0
RELN	5649	broad.mit.edu	37	7	103159888	103159888	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:103159888C>G	ENST00000428762.1	-	49	7903	c.7744G>C	c.(7744-7746)Ggg>Cgg	p.G2582R	RELN_ENST00000343529.5_Missense_Mutation_p.G2582R|RELN_ENST00000424685.2_Missense_Mutation_p.G2582R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2582					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCAGGCACCCATACATGAAG	0.378000													4	259					0	0	0.00024832	0	0
BRICD5	283870	broad.mit.edu	37	16	2260031	2260031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2260031C>T	ENST00000328540.3	-	4	1474	c.358G>A	c.(358-360)Gag>Aag	p.E120K	BRICD5_ENST00000562360.1_Missense_Mutation_p.E120K|BRICD5_ENST00000566018.1_Silent_p.L144L	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		TGGTGCTCCTCAGGGCGGTAA	0.687000													82	131					0	0	0.000781405	0	0
SH3D19	152503	broad.mit.edu	37	4	152054201	152054201	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:152054201C>A	ENST00000409598.4	-	16	3001	c.1834G>T	c.(1834-1836)Ggt>Tgt	p.G612C	SH3D19_ENST00000304527.4_Missense_Mutation_p.G635C|SH3D19_ENST00000455740.1_Missense_Mutation_p.G612C|SH3D19_ENST00000427414.2_Missense_Mutation_p.G576C|SH3D19_ENST00000409252.2_Missense_Mutation_p.G635C|SH3D19_ENST00000424281.1_Missense_Mutation_p.G576C|SH3D19_ENST00000514152.1_Missense_Mutation_p.G612C			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	635	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACATTTGCACCAGAGGTGGGA	0.358000													100	17					2.98122e-55	4.30846e-54	0.000781405	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25263266	25263266	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:25263266A>T	ENST00000328086.7	-	4	1572	c.769T>A	c.(769-771)Ttc>Atc	p.F257I		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	257	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCCTTCCTGAAATCCCGGTAG	0.463000													218	343					0	0	0.000781405	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978338	10978338	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:10978338C>A	ENST00000240619.2	-	1	619	c.531G>T	c.(529-531)ttG>ttT	p.L177F		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	177					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCAGATTTAGCAAAATCTGTT	0.323000													13	25					5.50884e-06	7.83942e-05	0.00010058	1	0
OR10A7	121364	broad.mit.edu	37	12	55615353	55615353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:55615353C>T	ENST00000326258.1	+	1	545	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182L(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGTGATGGTCCCCCAGTGTTA	0.463000													9	44					0	0	0.000274275	0	0
SYT6	148281	broad.mit.edu	37	1	114682401	114682401	+	Silent	SNP	C	C	T	rs139973136	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:114682401C>T	ENST00000393296.1	-	2	425	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SYT6_ENST00000369547.1_Silent_p.A31A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	116					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCTTGTCCGCCATGTTGC	0.617000													246	419					0	0	0.000781405	0	0
STAG3L2	442582	broad.mit.edu	37	7	74303873	74303873	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:74303873G>A	ENST00000423186.1	-	0	429							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						ACTGTTTCCGGCTATGACGAT	0.413000													838	279					0	0	0.000781405	0	0
ZNF782	158431	broad.mit.edu	37	9	99582013	99582013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:99582013C>T	ENST00000481138.1	-	6	953	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	ZNF782_ENST00000535338.1_5'UTR|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AAATGTTTGCCTTGATTTTCT	0.313000													21	11					0	0	0.000295444	0	0
DAB1	1600	broad.mit.edu	37	1	57481073	57481073	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:57481073G>A	ENST00000371236.2	-	12	1190	c.927C>T	c.(925-927)tcC>tcT	p.S309S	DAB1_ENST00000414851.2_Silent_p.S291S|DAB1_ENST00000371231.1_Silent_p.S342S|DAB1_ENST00000420954.2_Silent_p.S307S|DAB1_ENST00000371234.4_Silent_p.S309S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.S223S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	342					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GACCCCAGAAGGACGGGAGGA	0.607000													98	182					0	0	0.000781405	0	0
HGD	3081	broad.mit.edu	37	3	120394643	120394643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:120394643C>T	ENST00000283871.5	-	2	542	c.83G>A	c.(82-84)gGa>gAa	p.G28E	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	28					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCATACCTGTCCTTCTGGCAG	0.483000													26	32					0	0	0.000184323	0	0
CELSR1	9620	broad.mit.edu	37	22	46804984	46804984	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:46804984G>T	ENST00000262738.3	-	9	5134	c.5135C>A	c.(5134-5136)cCc>cAc	p.P1712H		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1712	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGGTACCAGGGCACAGAGAT	0.637000													11	555					0.000673444	0.00928291	0.000673444	1	0
CYLC2	1539	broad.mit.edu	37	9	105767118	105767118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:105767118G>A	ENST00000374798.3	+	4	392	c.322G>A	c.(322-324)Gat>Aat	p.D108N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D108N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	108	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGTCGAGGTGGATTCTAAAGC	0.363000													16	21					0	0	0.000958276	0	0
AQP10	89872	broad.mit.edu	37	1	154295777	154295777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:154295777C>T	ENST00000484864.1	+	4	467	c.431C>T	c.(430-432)tCc>tTc	p.S144F	AQP10_ENST00000324978.3_Missense_Mutation_p.S144F|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	144					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGACAGCCTCCATTTTTGCC	0.547000													626	568					0	0	0.000781405	0	0
TALDO1	6888	broad.mit.edu	37	11	758967	758967	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:758967T>A	ENST00000319006.3	+	3	392	c.239T>A	c.(238-240)aTt>aAt	p.I80N	TALDO1_ENST00000528097.1_Missense_Mutation_p.I80N			P37837	TALDO_HUMAN	transaldolase 1	80					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GAGGACCAGATTAAAAATGCT	0.448000													529	684					0	0	0.000781405	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31810109	31810109	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:31810109T>C	ENST00000373714.1	+	4	473	c.212T>C	c.(211-213)cTt>cCt	p.L71P	ZCCHC17_ENST00000546109.1_Missense_Mutation_p.L63P|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.L71P|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.L47P			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	71	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TGGGTGAAGCTTATTGGCCGA	0.443000													114	203					0	0	0.000781405	0	0
HMBOX1	79618	broad.mit.edu	37	8	28827942	28827942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:28827942C>T	ENST00000397358.3	+	4	1110	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	HMBOX1_ENST00000524238.1_Missense_Mutation_p.R136C|HMBOX1_ENST00000519047.1_Missense_Mutation_p.R136C|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R136C|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R136C|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R136C|HMBOX1_ENST00000403668.2_Missense_Mutation_p.R136C|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R136C|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R136C	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	136					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GTCACCAACTCGCTACCATGC	0.423000													44	59					0	0	0.000437636	0	0
HMGXB4	10042	broad.mit.edu	37	22	35660805	35660805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:35660805G>A	ENST00000216106.5	+	5	552	c.424G>A	c.(424-426)Gag>Aag	p.E142K	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E33K	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	142					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGCCATTCGGAGAGTAAAAA	0.502000													151	207					0	0	0.000781405	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391948	23391948	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:23391948G>A	ENST00000343070.2	+	13	1925	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	SCNN1B_ENST00000568085.1_Silent_p.E547E|SCNN1B_ENST00000568923.1_Silent_p.E556E|SCNN1B_ENST00000307331.5_Silent_p.E628E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	583					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCTGGTGGAGGCCCACACCA	0.697000													229	399					0	0	0.000781405	0	0
COL5A3	50509	broad.mit.edu	37	19	10114341	10114341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:10114341C>T	ENST00000264828.3	-	6	834	c.749G>A	c.(748-750)gGa>gAa	p.G250E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	250	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTCCCTTTTCCCTTCCCCTT	0.587000													195	205					0	0	0.000781405	0	0
FUT3	2525	broad.mit.edu	37	19	5843807	5843807	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:5843807G>A	ENST00000303225.6	-	3	1678	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S	FUT3_ENST00000589918.1_Silent_p.S348S|FUT3_ENST00000589620.1_Silent_p.S348S|FUT3_ENST00000458379.2_Silent_p.S348S	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	348					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCTGGTACCTGGATTCCTGCT	0.637000													272	373					0	0	0.000781405	0	0
KDM4D	55693	broad.mit.edu	37	11	94731230	94731230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:94731230C>T	ENST00000335080.5	+	3	1526	c.694C>T	c.(694-696)Cca>Tca	p.P232S	KDM4D_ENST00000536741.1_Missense_Mutation_p.P232S	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	232	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGAGCTCTTCCCAGGCAGTTC	0.582000													60	204					0	0	0.000781405	0	0
DACH1	1602	broad.mit.edu	37	13	72131210	72131210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:72131210C>T	ENST00000305425.4	-	6	1944	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.D560N	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	558					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCGGCCAAATCTCCCTCTTTG	0.413000													17	29					0	0	0.000422831	0	0
GATA1	2623	broad.mit.edu	37	X	48649640	48649640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:48649640G>A	ENST00000376670.3	+	2	235	c.124G>A	c.(124-126)Gat>Aat	p.D42N	GATA1_ENST00000376665.3_Missense_Mutation_p.D42N	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	42					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(7)|p.D42_D74>(3)|p.P38fs*14(2)|p.D42fs*27(2)|p.E39fs*83(2)|p.F33fs*23(1)|p.L41fs*23(1)|p.F33fs*90(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGAGGGCTTGGATGCAGCAGC	0.632000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								60	13					0	0	0.000781405	0	0
STRA8	346673	broad.mit.edu	37	7	134916779	134916779	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:134916779A>G	ENST00000275764.3	+	1	49	c.49A>G	c.(49-51)Agg>Ggg	p.R17G		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	17					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TCAAGAAATCAGGCTGTGGCA	0.512000													5	704					0	0	3.59834e-05	0	0
PRR21	643905	broad.mit.edu	37	2	240982270	240982270	+	Missense_Mutation	SNP	C	C	T	rs71420284		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:240982270C>T	ENST00000408934.1	-	1	129	c.130G>A	c.(130-132)Ggc>Agc	p.G44S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	44	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GGTGAAGAGCCGTGGATGAAG	0.582000													88	125					0	0	0.000781405	0	0
BTBD11	121551	broad.mit.edu	37	12	108045516	108045516	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:108045516G>A	ENST00000280758.5	+	16	3585	c.3057G>A	c.(3055-3057)gcG>gcA	p.A1019A	BTBD11_ENST00000494235.2_Silent_p.A98A|BTBD11_ENST00000357167.4_Silent_p.A556A|BTBD11_ENST00000420571.2_Silent_p.A900A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1019						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTATCTGTGCGAAAAGCATCA	0.483000													62	54					0	0	0.000781405	0	0
CCDC6	8030	broad.mit.edu	37	10	61666066	61666066	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61666066T>C	ENST00000263102.6	-	1	348	c.117A>G	c.(115-117)ggA>ggG	p.G39G		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	39	Poly-Gly.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		cgccgccgcctcccccgccgc	0.726000			T	RET	NSCLC								21	310					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152424922	152424922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:152424922G>A	ENST00000397345.3	-	112	17846	c.17644C>T	c.(17644-17646)Cgg>Tgg	p.R5882W	NEB_ENST00000604864.1_Missense_Mutation_p.R5882W|NEB_ENST00000603639.1_Missense_Mutation_p.R5882W|NEB_ENST00000427231.2_Missense_Mutation_p.R5882W|NEB_ENST00000409198.1_Missense_Mutation_p.R4181W|NEB_ENST00000172853.10_Missense_Mutation_p.R4181W	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5903					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGTCTTTCCGGTATTTAATC	0.443000													19	30					0	0	0.000958276	0	0
SLC22A10	387775	broad.mit.edu	37	11	63067078	63067078	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:63067078G>A	ENST00000544661.1	+	7	1010	c.582G>A	c.(580-582)agG>agA	p.R194R	SLC22A10_ENST00000535888.1_Silent_p.R139R|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Silent_p.R349R|SLC22A10_ENST00000526800.1_Silent_p.R189R			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	349						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCGTAAAAGGATCTGTATCC	0.418000													15	7					0	0	0.000566183	0	0
G6PC	2538	broad.mit.edu	37	17	41063225	41063225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:41063225G>A	ENST00000253801.2	+	5	935	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	286					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAGCTGCAAGGGGAAACTCAG	0.577000													71	120					0	0	0.000781405	0	0
OLAH	55301	broad.mit.edu	37	10	15107690	15107690	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:15107690G>A	ENST00000378217.3	+	7	856	c.669G>A	c.(667-669)aaG>aaA	p.K223K	OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Silent_p.K170K	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	170					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTGAAGCCAAGGAATTTGTGA	0.393000													25	53					0	0	0.000586117	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125552	12125552	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:12125552G>C	ENST00000379388.2	+	4	5856	c.5524G>C	c.(5524-5526)Gga>Cga	p.G1842R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1842					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCATCAACAGGATGCTCTAA	0.353000													4	146					0	0	0.00024832	0	0
HRNR	388697	broad.mit.edu	37	1	152191815	152191815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152191815C>T	ENST00000368801.2	-	3	2365	c.2290G>A	c.(2290-2292)Ggc>Agc	p.G764S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	764					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCCGTGGCCCGAAGATTGA	0.592000													460	352					0	0	0.000781405	0	0
SHD	56961	broad.mit.edu	37	19	4288335	4288335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:4288335C>T	ENST00000543264.2	+	5	2275	c.812C>T	c.(811-813)cCc>cTc	p.P271L	SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	271	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGACCAACCCCCAGGACTGC	0.577000													104	123					0	0	0.000781405	0	0
SENP6	26054	broad.mit.edu	37	6	76412655	76412655	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:76412655G>A	ENST00000370014.3	+	19	3202	c.2583G>A	c.(2581-2583)gtG>gtA	p.V861V	SENP6_ENST00000370010.2_Silent_p.V854V|SENP6_ENST00000447266.2_Silent_p.V861V|SENP6_ENST00000541192.1_Intron	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	861	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATACAGTGTGAAAAAAATAA	0.353000													64	27					0	0	0.000781405	0	0
OR2G6	391211	broad.mit.edu	37	1	248684994	248684994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:248684994G>A	ENST00000343414.4	+	1	79	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCTCCTGGGATTTTCAGAT	0.418000													92	91					0	0	0.000781405	0	0
COL8A1	1295	broad.mit.edu	37	3	99513113	99513113	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:99513113G>T	ENST00000261037.3	+	5	748	c.368G>T	c.(367-369)cGt>cTt	p.R123L	COL8A1_ENST00000273342.4_Missense_Mutation_p.R123L	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	123	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAAGGTCCCCGTGGAGAGCCT	0.532000													48	74					2.12129e-23	3.05347e-22	0.000781405	1	0
FAM69C	125704	broad.mit.edu	37	18	72109245	72109245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:72109245G>A	ENST00000343998.6	-	3	991	c.983C>T	c.(982-984)tCa>tTa	p.S328L	FAM69C_ENST00000400291.2_Missense_Mutation_p.S29L	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	328						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						ATCACATCTTGAAAAACAGTC	0.473000													280	479					0	0	0.000781405	0	0
CLTCL1	8218	broad.mit.edu	37	22	19170972	19170972	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:19170972G>T	ENST00000263200.10	-	30	4830	c.4758C>A	c.(4756-4758)gcC>gcA	p.A1586A	CLTCL1_ENST00000427926.1_Silent_p.A1586A|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.A1529A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1586	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGTGCCTCCAGGCCAGCTCAA	0.612000			T	?	ALCL								121	231					2.20518e-70	3.19119e-69	0.000781405	1	0
KRT4	3851	broad.mit.edu	37	12	53202120	53202120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:53202120C>T	ENST00000551956.1	-	6	1575	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	KRT4_ENST00000293774.4_Missense_Mutation_p.M435I|KRT4_ENST00000458244.2_Missense_Mutation_p.M341I			B4DRS2	B4DRS2_HUMAN	keratin 4	361						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCCTCTGGATCATCCTGTTGA	0.537000													63	307					0	0	0.000781405	0	0
COL27A1	85301	broad.mit.edu	37	9	117070023	117070023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:117070023G>A	ENST00000356083.3	+	59	5573	c.5182G>A	c.(5182-5184)Gga>Aga	p.G1728R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1728	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACTCATGGTGGACAGACGTG	0.607000													143	70					0	0	0.000781405	0	0
RIMBP2	23504	broad.mit.edu	37	12	130897293	130897293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:130897293C>T	ENST00000261655.4	-	15	2855	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	898	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACAGGTTTCCCCACGGTAG	0.438000													121	136					0	0	0.000781405	0	0
BYSL	705	broad.mit.edu	37	6	41897973	41897973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41897973C>T	ENST00000230340.4	+	3	910	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	179					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGCTGGACCCCCGGGTCCT	0.612000													121	206					0	0	0.000781405	0	0
PIDD	55367	broad.mit.edu	37	11	803208	803208	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:803208G>A	ENST00000347755.5	-	3	816	c.675C>T	c.(673-675)gcC>gcT	p.A225A	PIDD_ENST00000411829.2_Silent_p.A225A	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	225					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GCCGGTTGGAGGCCAGGTTGA	0.652000													146	155					0	0	0.000781405	0	0
RTF1	23168	broad.mit.edu	37	15	41772832	41772832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:41772832C>T	ENST00000389629.4	+	18	2092	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	694					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGATGGGGCTCCAAGGAGATC	0.547000													165	327					0	0	0.000781405	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364595	142364595	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142364595G>A	ENST00000390397.2	+	0	266																											ATAAACAAAGGAGAGATCTCT	0.463000													48	62					0	0	0.000781405	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171914	207171914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:207171914G>A	ENST00000374423.3	+	5	3048	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	888							nucleic acid binding|zinc ion binding	p.E888K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAATTCTCCCGAAGTAGCTGT	0.363000													21	30					0	0	0.000295444	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073328	17073328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:17073328G>A	ENST00000359963.3	-	1	372	c.113C>T	c.(112-114)gCt>gTt	p.A38V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	38					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGACTGCAGCCAAGCTGCT	0.647000													188	356					0	0	0.000781405	0	0
ALK	238	broad.mit.edu	37	2	29450459	29450459	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:29450459C>A	ENST00000389048.3	-	17	3801	c.2895G>T	c.(2893-2895)ctG>ctT	p.L965L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	965					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTGGGGTGTACAGGATGCCCA	0.522000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	541					0.000274275	0.00383431	0.000274275	1	0
ESR2	2100	broad.mit.edu	37	14	64724039	64724039	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:64724039C>T	ENST00000557772.1	-	5	995	c.996G>A	c.(994-996)gaG>gaA	p.E332E	ESR2_ENST00000353772.3_Silent_p.E332E|ESR2_ENST00000341099.4_Silent_p.E332E|ESR2_ENST00000542956.1_Silent_p.E332E|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000555278.1_Silent_p.E332E|ESR2_ENST00000553796.1_Silent_p.E332E|ESR2_ENST00000358599.5_Silent_p.E332E|ESR2_ENST00000357782.2_Silent_p.E332E|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000554572.1_Silent_p.E332E	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	332	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCCAACAGCTCTCCAAGAGCC	0.577000													264	398					0	0	0.000781405	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F17F|BCL2L12_ENST00000441864.2_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													328	503					0	0	0.000781405	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58022834	58022834	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:58022834T>C	ENST00000225577.4	+	14	1316	c.1295T>C	c.(1294-1296)aTc>aCc	p.I432T	RP11-178C3.1_ENST00000591035.1_Missense_Mutation_p.I35T|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.I409T|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.I432T|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.I379T	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	432	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GAACCAAAAATCCGATCACCT	0.383000													21	26					0	0	0.000375601	0	0
SORBS1	10580	broad.mit.edu	37	10	97096857	97096857	+	Silent	SNP	G	G	A	rs142455784		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:97096857G>A	ENST00000371247.2	-	30	3249	c.3060C>T	c.(3058-3060)caC>caT	p.H1020H	SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371227.4_Silent_p.H974H|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Silent_p.H1020H|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371249.2_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1020					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ACAAGGCGAGGTGGTCAGTGT	0.597000													44	97					0	0	0.000437636	0	0
PALD1	27143	broad.mit.edu	37	10	72324241	72324241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:72324241C>T	ENST00000263563.6	+	19	2652	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		AAGGCCGACTCCTGGCAGAGG	0.637000													205	484					0	0	0.000781405	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													29	193					0	0	0.000680045	0	0
KIAA1549	57670	broad.mit.edu	37	7	138604145	138604145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:138604145G>A	ENST00000440172.1	-	2	275	c.227C>T	c.(226-228)tCc>tTc	p.S76F	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S26F|KIAA1549_ENST00000422774.1_Missense_Mutation_p.S76F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	76						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGCTCCATGGAGTATAAAGA	0.502000			O	BRAF	pilocytic astrocytoma								89	187					0	0	0.000781405	0	0
RFX6	222546	broad.mit.edu	37	6	117201821	117201821	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:117201821C>T	ENST00000332958.2	+	3	511	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	165					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTGCGGCCACCTTTGGAAAGG	0.398000													107	60					0	0	0.000781405	0	0
DYSF	8291	broad.mit.edu	37	2	71780260	71780260	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:71780260C>T	ENST00000258104.3	+	20	2149	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	DYSF_ENST00000409762.1_Silent_p.F641F|DYSF_ENST00000429174.2_Silent_p.F624F|DYSF_ENST00000409744.1_Silent_p.F611F|DYSF_ENST00000394120.2_Silent_p.F625F|DYSF_ENST00000409366.1_Silent_p.F625F|DYSF_ENST00000409651.1_Silent_p.F656F|DYSF_ENST00000413539.2_Silent_p.F655F|DYSF_ENST00000410020.3_Silent_p.F642F|DYSF_ENST00000409582.3_Silent_p.F641F|DYSF_ENST00000410041.1_Silent_p.F642F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	624						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAACAAGTTCGACATGACCT	0.577000													228	408					0	0	0.000781405	0	0
SLC14A1	6563	broad.mit.edu	37	18	43328385	43328385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:43328385G>A	ENST00000589700.1	+	6	843	c.843G>A	c.(841-843)tgG>tgA	p.W281*	SLC14A1_ENST00000436407.3_Missense_Mutation_p.A387T|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A226T|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A223T|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A199T|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A35T|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A387T|SLC14A1_ENST00000321925.4_Missense_Mutation_p.A331T|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A331T			Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AAACTTTATGGCTGAGGTGAG	0.443000													49	68					0	0	0.000781405	0	0
ACSM5	54988	broad.mit.edu	37	16	20422920	20422920	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:20422920C>T	ENST00000331849.4	+	2	261	c.114C>T	c.(112-114)acC>acT	p.T38T	ACSM5_ENST00000575584.1_Silent_p.T38T	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	38					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCGTGGCCACCTGGGAAGCCA	0.577000													34	53					0	0	0.000409698	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948195	119948195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:119948195C>T	ENST00000307142.4	+	3	867	c.671C>T	c.(670-672)tCt>tTt	p.S224F	SYNPO2_ENST00000434046.2_Missense_Mutation_p.S224F|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S224F	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	224						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTGAAAAATCTAAGTCTCCT	0.517000													53	29					0	0	0.000781405	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130342957	130342957	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:130342957C>T	ENST00000299164.2	+	8	2094	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	698	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCTACAATTTCGTGGTGGCCA	0.582000													286	334					0	0	0.000781405	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871126	8871126	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:8871126G>A	ENST00000256707.3	-	30	5221	c.5040C>T	c.(5038-5040)ccC>ccT	p.P1680P	KIDINS220_ENST00000473731.1_Silent_p.P1661P|KIDINS220_ENST00000427284.1_Silent_p.P1661P|KIDINS220_ENST00000418530.1_Silent_p.P1581P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1680					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCACGGTGCTGGGAGTTCGGT	0.483000													138	341					0	0	0.000781405	0	0
MYO9A	4649	broad.mit.edu	37	15	72192297	72192297	+	Silent	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:72192297C>G	ENST00000356056.5	-	24	3673	c.3201G>C	c.(3199-3201)gtG>gtC	p.V1067V	MYO9A_ENST00000564571.1_Silent_p.V1067V|MYO9A_ENST00000424560.1_Silent_p.V1067V|MYO9A_ENST00000444904.1_Silent_p.V1048V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.V687V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1067	IQ 2.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATCCTTCTGCACAGCTGCAT	0.473000													3	33					0	0	6.4e-05	0	0
DDX60	55601	broad.mit.edu	37	4	169189052	169189052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:169189052G>A	ENST00000393743.3	-	21	3160	c.2869C>T	c.(2869-2871)Cgt>Tgt	p.R957C		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	957							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCGGCCTGACGACCCACATGT	0.328000													54	15					0	0	0.000781405	0	0
MAATS1	89876	broad.mit.edu	37	3	119466063	119466063	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:119466063G>A	ENST00000273390.5	+	15	2081	c.2004G>A	c.(2002-2004)gaG>gaA	p.E668E	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CAGAAATAGAGAAGATGGCTG	0.408000													37	66					0	0	0.000270559	0	0
KPNA2	3838	broad.mit.edu	37	17	66042701	66042701	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:66042701T>G	ENST00000537025.2	+	11	2199	c.1579T>G	c.(1579-1581)Ttt>Gtt	p.F527V	KPNA2_ENST00000582898.1_3'UTR|KPNA2_ENST00000330459.3_Missense_Mutation_p.F527V			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	527					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCCTGGGACCTTTAACTTTTA	0.363000													5	823					0	0	0.000274275	0	0
OR10G2	26534	broad.mit.edu	37	14	22102532	22102532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:22102532G>A	ENST00000542433.1	-	1	564	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CATGGAGCCGGCGACCCAAGC	0.557000													84	165					0	0	0.000781405	0	0
MYO7B	4648	broad.mit.edu	37	2	128366430	128366430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:128366430G>A	ENST00000389524.4	+	22	2844	c.2791G>A	c.(2791-2793)Ggc>Agc	p.G931S	MYO7B_ENST00000409816.2_Missense_Mutation_p.G931S|MYO7B_ENST00000428314.1_Missense_Mutation_p.G931S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	931						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGCCAGGAGGGCCAGGCCTC	0.627000													72	130					0	0	0.000781405	0	0
VEGFB	7423	broad.mit.edu	37	11	64005048	64005048	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64005048A>C	ENST00000426086.2	+	6	480	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	VEGFB_ENST00000309422.2_Silent_p.G189G			P49765	VEGFB_HUMAN	vascular endothelial growth factor B	149					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TGACCCCCGGACCTGCCGCTG	0.711000													14	78					0	0	0.00058488	0	0
TIAM1	7074	broad.mit.edu	37	21	32582404	32582404	+	Missense_Mutation	SNP	C	C	T	rs138815314		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:32582404C>T	ENST00000286827.3	-	12	2816	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.R757Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	782	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTCGCCTGGCCGGACGACCGT	0.547000													30	21					0	0	0.000147802	0	0
ATP2B2	491	broad.mit.edu	37	3	10370570	10370570	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:10370570C>T	ENST00000397077.1	-	22	4100	c.3525G>A	c.(3523-3525)acG>acA	p.T1175T	ATP2B2_ENST00000360273.2_Silent_p.T1220T|ATP2B2_ENST00000383800.4_Silent_p.T1175T|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000343816.4_Silent_p.T1206T|ATP2B2_ENST00000352432.4_Silent_p.T1220T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1220					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTGTGTCGGTCGTCAGGTTGA	0.602000													180	314					0	0	0.000781405	0	0
LALBA	3906	broad.mit.edu	37	12	48962956	48962956	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:48962956C>T	ENST00000549817.1	-	2	246	c.201G>A	c.(199-201)acG>acA	p.T67T	LALBA_ENST00000301046.2_Silent_p.T67T			P00709	LALBA_HUMAN	lactalbumin, alpha-	67					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						GTCCATATTCCGTGCTTTCAT	0.453000													18	53					0	0	0.00074312	0	0
GPR97	222487	broad.mit.edu	37	16	57702286	57702286	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:57702286C>T	ENST00000333493.4	+	1	188	c.27C>T	c.(25-27)gcC>gcT	p.A9A	GPR97_ENST00000450388.3_5'UTR|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCTGGGGGCCCTGCTCCTGC	0.716000													62	92					0	0	0.000781405	0	0
DHX30	22907	broad.mit.edu	37	3	47887946	47887946	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:47887946G>T	ENST00000446256.2	+	12	1839	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W	DHX30_ENST00000348968.4_Missense_Mutation_p.G434W|DHX30_ENST00000457607.1_Missense_Mutation_p.G490W|DHX30_ENST00000445061.1_Missense_Mutation_p.G462W	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	462						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACGGGCTGTGGGAAGACCAC	0.642000													13	982					0.000673444	0.00928291	0.000673444	1	0
SNRK	54861	broad.mit.edu	37	3	43373671	43373671	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:43373671T>A	ENST00000296088.7	+	4	904	c.600T>A	c.(598-600)agT>agA	p.S200R	SNRK_ENST00000454177.1_Missense_Mutation_p.S200R|SNRK_ENST00000429705.2_Missense_Mutation_p.S200R|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_De_novo_Start_InFrame	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	200	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ATATTTGGAGTCTGGGAGTGA	0.353000													31	76					0	0	0.000491102	0	0
RTTN	25914	broad.mit.edu	37	18	67733128	67733128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:67733128G>A	ENST00000255674.6	-	35	4970	c.4684C>T	c.(4684-4686)Cag>Tag	p.Q1562*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.Q1562*|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1562							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACAAGTGGCTGAAATTCAGTA	0.393000													130	215					0	0	0.000781405	0	0
DCAF8	50717	broad.mit.edu	37	1	160209837	160209837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160209837G>A	ENST00000368073.3	-	4	807	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.R125C|DCAF8_ENST00000556710.1_Missense_Mutation_p.R279C|DCAF8_ENST00000326837.2_Missense_Mutation_p.R125C			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	125						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTGGTCACGGTTAGCCCGC	0.592000													116	82					0	0	0.000781405	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555104	44555104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:44555104C>T	ENST00000330682.2	-	1	1345	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	370	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GATCGGGCGTCCACCCTTCCA	0.587000													357	7598					0	0	0.000191422	0	0
SPIDR	23514	broad.mit.edu	37	8	48508560	48508560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:48508560G>A	ENST00000297423.4	+	9	1669	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	SPIDR_ENST00000541342.1_Missense_Mutation_p.E359K|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.E369K	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		TAATTCACCTGAAATCCAGGT	0.393000													13	25					0	0	0.00010058	0	0
DNAH7	56171	broad.mit.edu	37	2	196759768	196759768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:196759768C>T	ENST00000312428.6	-	30	4928	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1610	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAAATGGTTCTCCAACAATC	0.333000													19	27					0	0	0.00074312	0	0
MYT1L	23040	broad.mit.edu	37	2	1983293	1983293	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:1983293C>T	ENST00000399161.2	-	7	836	c.89_splice	c.e7+1	p.S30_splice	MYT1L_ENST00000428368.2_Splice_Site_p.S30_splice	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	30					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCACTAACCTGAACAGCTC	0.458000													55	142					0	0	0.000781405	0	0
TMEM35	59353	broad.mit.edu	37	X	100349860	100349860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:100349860C>T	ENST00000372930.4	+	2	702	c.419C>T	c.(418-420)tCt>tTt	p.S140F	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	140						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GACCGGTCTTCTGAGAAGAAG	0.542000													391	107					0	0	0.000781405	0	0
NUP210P1	255330	broad.mit.edu	37	3	126386006	126386006	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:126386006G>A	ENST00000357061.3	+	0	458					NR_034158.1																						AGCTTCTGGGGGCATTCCCAG	0.527000													22	57					0	0	0.000175454	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199113	90199113	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:90199113G>A	ENST00000390276.2	+	0	455																											ATCTGGGACAGATTTCACTCT	0.502000													46	94					0	0	0.000781405	0	0
MALAT1	378938	broad.mit.edu	37	11	65267853	65267853	+	RNA	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:65267853A>G	ENST00000534336.1	+	0	2621					NR_002819.2																						ACTAGCATTAATTGACAGCTG	0.393000													166	185					0	0	0.000781405	0	0
SCRN3	79634	broad.mit.edu	37	2	175264816	175264816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:175264816G>A	ENST00000272732.6	+	3	408	c.326G>A	c.(325-327)gGa>gAa	p.G109E	SCRN3_ENST00000409673.3_Missense_Mutation_p.G102E	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	109					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GCACTATTAGGAATGGACCTT	0.358000													217	441					0	0	0.000781405	0	0
RNF17	56163	broad.mit.edu	37	13	25338466	25338466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:25338466C>T	ENST00000255324.5	+	1	177	c.125C>T	c.(124-126)tCa>tTa	p.S42L	RNF17_ENST00000255325.5_Missense_Mutation_p.S42L|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.S42L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	42					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTATCCAGATCATCCGGTGAG	0.657000													42	62					0	0	0.000270559	0	0
BAI1	575	broad.mit.edu	37	8	143562623	143562623	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:143562623C>T	ENST00000517894.1	+	10	2731	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	BAI1_ENST00000323289.5_Silent_p.L613L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	613					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGGACTCATCCTGCGACGGTG	0.607000													278	409					0	0	0.000781405	0	0
UBXN10	127733	broad.mit.edu	37	1	20517564	20517564	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:20517564G>A	ENST00000375099.3	+	2	594	c.510G>A	c.(508-510)gtG>gtA	p.V170V		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	170										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CTTGTGCCGTGGAGAGGAAAT	0.527000													192	277					0	0	0.000781405	0	0
APLNR	187	broad.mit.edu	37	11	57004260	57004260	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:57004260C>T	ENST00000606794.1	-	1	415	c.219G>A	c.(217-219)gtG>gtA	p.V73V		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	73						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCAGGTCAGCCACCGCCAGGC	0.612000													159	184					0	0	0.000781405	0	0
MARCO	8685	broad.mit.edu	37	2	119735476	119735476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:119735476G>A	ENST00000541757.1	+	9	877	c.497G>A	c.(496-498)gGa>gAa	p.G166E	MARCO_ENST00000327097.4_Missense_Mutation_p.G244E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	244	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGAAACTGGAACTAAGGGA	0.602000													9	29					0	0	0.000673444	0	0
NOS1	4842	broad.mit.edu	37	12	117669901	117669901	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:117669901G>T	ENST00000317775.6	-	22	3956	c.3271C>A	c.(3271-3273)Ccg>Acg	p.P1091T	NOS1_ENST00000338101.4_Missense_Mutation_p.P1125T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1091	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGCAGGGCGGGAGGCGGAGC	0.602000													33	55					9.45814e-24	1.36205e-22	0.000953801	1	0
IRAK2	3656	broad.mit.edu	37	3	10280489	10280489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:10280489C>T	ENST00000256458.4	+	12	1621	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	511					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GACGTTGCTCCCTTGGAGTGG	0.562000													406	609					0	0	0.000781405	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602557	45602557	+	RNA	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:45602557A>C	ENST00000423875.1	-	0	879																											CAATATATAAACAGGGTGGCA	0.438000													14	13					0	0	0.000219431	0	0
SPTLC3	55304	broad.mit.edu	37	20	12990012	12990012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:12990012G>A	ENST00000399002.2	+	1	371	c.97G>A	c.(97-99)Gga>Aga	p.G33R	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.G33R	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	33					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CACAAAGAATGGAATAGTGAA	0.458000													22	31					0	0	0.000229342	0	0
TNS4	84951	broad.mit.edu	37	17	38636963	38636963	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38636963T>G	ENST00000254051.6	-	9	1888	c.1730A>C	c.(1729-1731)aAg>aCg	p.K577T		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	577	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CGCAGATTTCTTCTGGCAGGA	0.632000													92	176					0	0	0.000781405	0	0
NELFB	25920	broad.mit.edu	37	9	140161790	140161790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:140161790C>T	ENST00000343053.4	+	10	1674	c.1337C>T	c.(1336-1338)cCc>cTc	p.P446L		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		CGCCTGCTGCCCGGGCTGGGT	0.677000													70	35					0	0	0.000781405	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651045	121651045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:121651045G>A	ENST00000393386.2	+	12	2356	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E649K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	649					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCCTTCTATGGAGGGAAATGT	0.423000													11	32					0	0	6.40141e-05	0	0
CNTN1	1272	broad.mit.edu	37	12	41312506	41312506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:41312506G>A	ENST00000551295.2	+	4	277	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CNTN1_ENST00000348761.2_Missense_Mutation_p.E43K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E54K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E54K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E54K|CNTN1_ENST00000547702.1_Missense_Mutation_p.E54K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	54	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATTTATCCAGAGGAATCACT	0.413000													25	54					0	0	0.00047179	0	0
SEMA6C	10500	broad.mit.edu	37	1	151115037	151115037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151115037G>A	ENST00000341697.3	-	3	1752	c.61C>T	c.(61-63)Cat>Tat	p.H21Y				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	21						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCTGAGTATGGGGAAGTGAG	0.622000													485	441					0	0	0.000781405	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29885032	29885032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:29885032G>A	ENST00000308713.5	-	13	2650	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P664L|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P638L|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P594L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	708	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCTCGCCAGGGTCAGCACA	0.637000													204	255					0	0	0.000781405	0	0
FBXW7	55294	broad.mit.edu	37	4	153332598	153332598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:153332598G>A	ENST00000281708.4	-	2	1587	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q120*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Q120*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q120*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	120					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCACTCTCCTGGTCCATctcc	0.463000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								17	7					0	0	0.000958276	0	0
LTBP3	4054	broad.mit.edu	37	11	65313968	65313968	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:65313968G>A	ENST00000301873.5	-	16	2566	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	LTBP3_ENST00000532932.1_Silent_p.F196F|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Silent_p.F766F|LTBP3_ENST00000536982.1_Silent_p.F392F	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	766	Cys-rich.|EGF-like 6; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGTGCAGCGGAAGGAGCCCG	0.746000													117	120					0	0	0.000781405	0	0
ZAP70	7535	broad.mit.edu	37	2	98354344	98354344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:98354344G>A	ENST00000264972.5	+	12	1822	c.1607G>A	c.(1606-1608)gGc>gAc	p.G536D	ZAP70_ENST00000451498.2_Missense_Mutation_p.G229D|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.G410D	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	536	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TTGTCCTACGGCCAGAAGCCC	0.627000													542	816					0	0	0.000781405	0	0
PTPRD	5789	broad.mit.edu	37	9	8499786	8499786	+	Missense_Mutation	SNP	A	A	C	rs141698449		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:8499786A>C	ENST00000381196.4	-	22	2726	c.2183T>G	c.(2182-2184)gTt>gGt	p.V728G	PTPRD_ENST00000360074.4_Missense_Mutation_p.V715G|PTPRD_ENST00000358503.5_Missense_Mutation_p.V715G|PTPRD_ENST00000356435.5_Missense_Mutation_p.V728G|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.V728G|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	728	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGAGACTTTAACAGATGTTGA	0.473000										TSP Lung(15;0.13)			35	44					0	0	0.00058488	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217434	150217434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:150217434G>A	ENST00000313543.4	+	2	529	c.372G>A	c.(370-372)atG>atA	p.M124I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	124							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCAGCCATGAAGCACATGG	0.517000													137	230					0	0	0.000781405	0	0
KSR1	8844	broad.mit.edu	37	17	25924425	25924425	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:25924425C>T	ENST00000398988.3	+	11	1465	c.1020C>T	c.(1018-1020)ccC>ccT	p.P340P	KSR1_ENST00000268763.6_Silent_p.P340P|KSR1_ENST00000509603.2_Silent_p.P477P|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000319524.6_Silent_p.P477P	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	475					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCCCCAACCCCTCACCTGGCC	0.617000													60	120					0	0	0.000781405	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:131038524C>T	ENST00000320188.4	+	1	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000													151	77					0	0	0.000781405	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741113	146741113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:146741113G>A	ENST00000361727.3	+	4	1033	c.517G>A	c.(517-519)Gga>Aga	p.G173R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	173	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTCGCATTGGACTCAGAAT	0.403000										HNSCC(39;0.1)			45	84					0	0	0.000781405	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31711766	31711766	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31711766C>T	ENST00000493662.2	+	6	557	c.501C>T	c.(499-501)ttC>ttT	p.F167F	MSH5_ENST00000375750.3_Silent_p.F167F|MSH5_ENST00000534153.4_Silent_p.F167F|MSH5_ENST00000375755.3_Silent_p.F167F|MSH5_ENST00000375742.3_Silent_p.F167F|MSH5_ENST00000375703.3_Silent_p.F167F|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375740.3_Silent_p.F167F																							AAATCCTCTTCCTCTCTTCCA	0.522000													1276	2009					0	0	0.000781405	0	0
PRDX2	7001	broad.mit.edu	37	19	12911090	12911090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:12911090C>T	ENST00000301522.2	-	4	409	c.281G>A	c.(280-282)gGa>gAa	p.G94E	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Missense_Mutation_p.G94E	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	94	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCCAAGCCTCCCTCTTTCCG	0.607000													446	642					0	0	0.000781405	0	0
DAG1	1605	broad.mit.edu	37	3	49548072	49548072	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:49548072C>T	ENST00000545947.1	+	5	827	c.105C>T	c.(103-105)ccC>ccT	p.P35P	DAG1_ENST00000538711.1_Silent_p.P35P|DAG1_ENST00000515359.2_Silent_p.P35P|DAG1_ENST00000479935.1_3'UTR|DAG1_ENST00000308775.2_Silent_p.P35P|DAG1_ENST00000541308.1_Silent_p.P35P|DAG1_ENST00000539901.1_Silent_p.P35P	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	35	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGTGAACCCTCAGAGGCTG	0.602000													49	105					0	0	0.000781405	0	0
NTN5	126147	broad.mit.edu	37	19	49167959	49167959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49167959C>T	ENST00000270235.4	-	3	792	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	233	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCACTCCGGCCGCCCGACAGT	0.657000													47	72					0	0	0.000781405	0	0
PLXNA4	91584	broad.mit.edu	37	7	131910981	131910981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:131910981C>T	ENST00000359827.3	-	8	2883	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E641K			Q9HCM2	PLXA4_HUMAN	plexin A4	641						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGCCGGTCTCCTTTGATTTG	0.567000													100	207					0	0	0.000781405	0	0
FAM71A	149647	broad.mit.edu	37	1	212799806	212799806	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:212799806C>T	ENST00000294829.3	+	1	2018	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	529										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCAGCTCTTTCCTGAGGAACG	0.547000													211	187					0	0	0.000781405	0	0
CLEC2B	9976	broad.mit.edu	37	12	10010159	10010159	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:10010159T>C	ENST00000228438.2	-	3	1084	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E		NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	51	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CCTTCTTCTTTAGAGAAATAA	0.318000													8	37					0	0	0.000157383	0	0
ALMS1	7840	broad.mit.edu	37	2	73675293	73675293	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:73675293C>T	ENST00000264448.6	+	8	1747	c.1636C>T	c.(1636-1638)Cta>Tta	p.L546L	ALMS1_ENST00000377715.1_Silent_p.L546L|ALMS1_ENST00000409009.1_Silent_p.L504L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	546	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGATACTCATCTAACTGAAGA	0.453000													14	28					0	0	0.000308642	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133721	119133721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:119133721G>A	ENST00000264245.4	+	12	3477	c.2945G>A	c.(2944-2946)aGg>aAg	p.R982K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	982					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAAACAGAGAGGAATTCTGAC	0.532000													62	88					0	0	0.000781405	0	0
ADAM28	10863	broad.mit.edu	37	8	24193090	24193090	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:24193090G>A	ENST00000265769.4	+	14	1613	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.K268K|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K248K|ADAM28_ENST00000437154.2_Silent_p.K501K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	501	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATCACGGGAAGGGCCACTGCT	0.522000													9	16					0	0	0.000274275	0	0
SCN10A	6336	broad.mit.edu	37	3	38770082	38770082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:38770082G>A	ENST00000449082.2	-	15	2590	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	864					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGGCATATGGATTTTTGGCC	0.527000													30	68					0	0	0.000409698	0	0
APITD1-CORT	100526739	broad.mit.edu	37	1	10500419	10500419	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:10500419C>T	ENST00000400900.2	+	4	641	c.225C>T	c.(223-225)acC>acT	p.T75T	APITD1-CORT_ENST00000465026.1_3'UTR|APITD1_ENST00000602296.1_Intron|APITD1_ENST00000462462.1_3'UTR|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Silent_p.T75T|APITD1_ENST00000309048.3_Silent_p.T75T			Q8N2Z9	CENPS_HUMAN		75					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding										CGAAAAGAACCACAATTAACA	0.408000													110	263					0	0	0.000781405	0	0
USP17L2	377630	broad.mit.edu	37	8	11995223	11995223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:11995223C>T	ENST00000333796.3	-	1	1363	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	349					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGGCATCATCCATTTTATACC	0.478000													31	10					0	0	0.000279167	0	0
ARSB	411	broad.mit.edu	37	5	78076340	78076340	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:78076340G>A	ENST00000264914.4	-	8	2018	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	494					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GCTTTGTGACGATGTGAGGAT	0.537000													23	95					0	0	0.000295444	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924320	43924320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:43924320C>T	ENST00000329196.5	+	1	2065	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	683						integral to membrane	aspartic-type endopeptidase activity										ACCCAGGCTCCCTTGTGAACT	0.567000													158	302					0	0	0.000781405	0	0
PLCH1	23007	broad.mit.edu	37	3	155200085	155200085	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:155200085G>A	ENST00000460012.1	-	23	3997	c.3640C>T	c.(3640-3642)Ctg>Ttg	p.L1214L	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.L1214L|PLCH1_ENST00000414191.1_Silent_p.L1214L|PLCH1_ENST00000340059.7_Silent_p.L1252L|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1252					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATGAGCACAGGAAGGAAGAC	0.473000													160	246					0	0	0.000781405	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351173	47351173	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:47351173C>T	ENST00000505841.1	-	0	449					NR_002788.2																						TGAATATTTTCAGAATGCTGA	0.478000													15	17					0	0	0.000219431	0	0
FEM1A	55527	broad.mit.edu	37	19	4793084	4793084	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:4793084C>T	ENST00000269856.3	+	1	1357	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	406					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.F406F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGGGCAATTTCGAGCGCTGCA	0.622000													316	520					0	0	0.000781405	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000304887.5_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													3	111					0	0	0.000602214	0	0
KRT71	112802	broad.mit.edu	37	12	52943862	52943862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:52943862C>T	ENST00000267119.5	-	2	676	c.607G>A	c.(607-609)Gac>Aac	p.D203N		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	203	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AGCTCCGAGTCCAGCCTCACC	0.587000													253	330					0	0	0.000781405	0	0
ARID3C	138715	broad.mit.edu	37	9	34625778	34625778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:34625778C>T	ENST00000378909.2	-	2	444	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	118	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCCAGAAATTCCTTCCTCTTG	0.542000													341	570					0	0	0.000781405	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													55	451					0	0	0.000781405	0	0
BRINP2	57795	broad.mit.edu	37	1	177225096	177225096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:177225096G>A	ENST00000361539.4	+	3	623	c.311G>A	c.(310-312)aGg>aAg	p.R104K		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		104						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTCTGGAAAGGAAGGACTTC	0.493000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	91					0	0	0.000229342	0	0
CNTN5	53942	broad.mit.edu	37	11	99690324	99690324	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:99690324A>G	ENST00000524871.1	+	4	395	c.105A>G	c.(103-105)ttA>ttG	p.L35L	CNTN5_ENST00000527185.1_Silent_p.L35L|CNTN5_ENST00000279463.3_Silent_p.L35L|CNTN5_ENST00000528682.1_Silent_p.L35L|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	35					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGCTTTGTTAAGAATTAAGA	0.368000													116	309					0	0	0.000781405	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887912	9887912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:9887912G>A	ENST00000306084.6	+	2	1635	c.1436G>A	c.(1435-1437)tGg>tAg	p.W479*	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Nonsense_Mutation_p.W412*|TXNDC2_ENST00000577697.1_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	479	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCGGCCACGTGGTGTGGGCCC	0.587000													28	60					0	0	0.000147802	0	0
DNAH3	55567	broad.mit.edu	37	16	20986677	20986677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:20986677C>T	ENST00000261383.3	-	51	8136	c.8137G>A	c.(8137-8139)Gaa>Aaa	p.E2713K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2713	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGGCAGTTTCCTCGGAGGTG	0.488000													220	335					0	0	0.000781405	0	0
SCN11A	11280	broad.mit.edu	37	3	38951638	38951638	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:38951638C>T	ENST00000450244.1	-	8	1218	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	SCN11A_ENST00000456224.3_Silent_p.T340T|SCN11A_ENST00000302328.3_Silent_p.T340T|SCN11A_ENST00000444237.2_Silent_p.T340T			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTCAAAATTCGTATAATTAT	0.368000													11	20					0	0	0.000151284	0	0
MEP1B	4225	broad.mit.edu	37	18	29795084	29795084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:29795084G>A	ENST00000269202.6	+	12	1666	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	MEP1B_ENST00000581447.1_Missense_Mutation_p.G540E	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	540	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCTAAAGTGGGAACAGTGGCT	0.408000													86	186					0	0	0.000781405	0	0
DRD5	1816	broad.mit.edu	37	4	9784156	9784156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:9784156C>T	ENST00000304374.2	+	1	899	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	168					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGACCTTGTCCATCCTCATC	0.627000													305	179					0	0	0.000781405	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862602	94862602	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:94862602C>T	ENST00000278505.4	+	2	1480	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	454						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTTGCAAGGACATTGCACTGG	0.527000													79	83					0	0	0.000781405	0	0
GPR97	222487	broad.mit.edu	37	16	57702287	57702287	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:57702287C>T	ENST00000333493.4	+	1	189	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	GPR97_ENST00000450388.3_5'UTR|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	10					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGGGGGCCCTGCTCCTGCT	0.716000													62	92					0	0	0.000781405	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943137	12943137	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12943137T>C	ENST00000235349.5	-	2	149	c.79A>G	c.(79-81)Atg>Gtg	p.M27V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	27										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGTGGACATGGCCAAAGCT	0.577000													7	324					0	0	0.000491102	0	0
HERC4	26091	broad.mit.edu	37	10	69750152	69750152	+	Silent	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:69750152T>G	ENST00000395198.3	-	14	1696	c.1449A>C	c.(1447-1449)gcA>gcC	p.A483A	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Silent_p.A483A|HERC4_ENST00000373700.4_Silent_p.A483A|HERC4_ENST00000277817.6_Silent_p.A373A	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	483					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCAAACTAGCTGCCACCTATA	0.328000													12	20					0	0	0.00010058	0	0
OR4K17	390436	broad.mit.edu	37	14	20586009	20586009	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20586009C>A	ENST00000315543.4	+	1	444	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTTGGTCTCCATGGCTTTTG	0.423000													23	65					9.95505e-16	1.42855e-14	0.000295444	1	0
CLDN11	5010	broad.mit.edu	37	3	170150513	170150513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:170150513C>T	ENST00000064724.3	+	3	795	c.593C>T	c.(592-594)tCc>tTc	p.S198F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000451576.1_Intron	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	198				RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187).	calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGCTCTAGCTCCCCGACTCAT	0.612000													125	202					0	0	0.000781405	0	0
VEGFA	7422	broad.mit.edu	37	6	43745284	43745284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:43745284C>T	ENST00000372067.3	+	3	1231	c.737C>T	c.(736-738)cCt>cTt	p.P246L	VEGFA_ENST00000230480.6_Missense_Mutation_p.P38L|VEGFA_ENST00000324450.6_Missense_Mutation_p.P246L|VEGFA_ENST00000425836.2_Missense_Mutation_p.P246L|VEGFA_ENST00000457104.2_Missense_Mutation_p.P66L|VEGFA_ENST00000413642.3_Missense_Mutation_p.P246L|VEGFA_ENST00000372077.4_Missense_Mutation_p.P66L|VEGFA_ENST00000482630.2_Missense_Mutation_p.P246L|VEGFA_ENST00000523125.1_Missense_Mutation_p.P66L|VEGFA_ENST00000523873.1_Missense_Mutation_p.P66L|VEGFA_ENST00000518689.1_Missense_Mutation_p.P66L|VEGFA_ENST00000523950.1_Missense_Mutation_p.P66L|VEGFA_ENST00000520948.1_Missense_Mutation_p.P66L|VEGFA_ENST00000417285.2_Missense_Mutation_p.P246L|VEGFA_ENST00000518824.1_Missense_Mutation_p.P66L|VEGFA_ENST00000372055.4_Missense_Mutation_p.P246L|VEGFA_ENST00000372064.4_Missense_Mutation_p.P246L	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	66					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CAGGAGTACCCTGATGAGATC	0.562000													196	283					0	0	0.000781405	0	0
ZRANB1	54764	broad.mit.edu	37	10	126670317	126670317	+	Silent	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:126670317T>A	ENST00000359653.4	+	6	1838	c.1467T>A	c.(1465-1467)tcT>tcA	p.S489S	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	489	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CATGGTATTCTCAGAGCTTTG	0.348000													42	81					0	0	0.000781405	0	0
MROH7	374977	broad.mit.edu	37	1	55144429	55144429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:55144429G>A	ENST00000414150.2	+	11	2229	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	MROH7_ENST00000421030.2_Missense_Mutation_p.E651K|MROH7_ENST00000395690.2_Missense_Mutation_p.E651K|MROH7_ENST00000454855.2_Missense_Mutation_p.E169K|MROH7_ENST00000545244.1_Missense_Mutation_p.E219K|MROH7_ENST00000409996.1_Missense_Mutation_p.E219K|MROH7_ENST00000339553.5_Missense_Mutation_p.E651K					maestro heat-like repeat family member 7																		CAGAGATAAGGAAGAGACCAA	0.483000													69	125					0	0	0.000781405	0	0
DDX17	10521	broad.mit.edu	37	22	38894509	38894509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:38894509G>A	ENST00000396821.3	-	4	707	c.608C>T	c.(607-609)cCg>cTg	p.P203L	DDX17_ENST00000381633.3_Missense_Mutation_p.P124L|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	124	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AAGAGCCAACGGAAATCCCTG	0.438000													166	242					0	0	0.000781405	0	0
DHX57	90957	broad.mit.edu	37	2	39095502	39095502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:39095502C>T	ENST00000295373.6	-	2	172	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	16	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GACCCTTTTCCACCTCCTTTG	0.493000													198	444					0	0	0.000781405	0	0
RASAL2	9462	broad.mit.edu	37	1	178427385	178427385	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:178427385C>T	ENST00000448150.3	+	14	3743	c.2925C>T	c.(2923-2925)tcC>tcT	p.S975S	RASAL2_ENST00000367649.3_Silent_p.S986S|RASAL2_ENST00000462775.1_Silent_p.S845S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	845					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGACTTCTCCAGGCGGCACA	0.512000													162	112					0	0	0.000781405	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983084	12983084	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:12983084A>C	ENST00000273221.4	-	2	563	c.347T>G	c.(346-348)cTg>cGg	p.L116R	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	116					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTGTCCTGCAGGTCCGAGGA	0.632000													79	91					0	0	0.000781405	0	0
ARAP1	116985	broad.mit.edu	37	11	72408418	72408418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:72408418G>A	ENST00000359373.5	-	21	3754	c.2903C>T	c.(2902-2904)tCg>tTg	p.S968L	ARAP1_ENST00000393609.3_Missense_Mutation_p.S968L|ARAP1_ENST00000334211.8_Missense_Mutation_p.S723L|ARAP1_ENST00000426523.1_Missense_Mutation_p.S723L|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.S728L|ARAP1_ENST00000455638.2_Missense_Mutation_p.S968L|ARAP1_ENST00000429686.1_Missense_Mutation_p.S662L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	968	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGGGATATCCGAGTCCCCAAG	0.682000													982	1061					0	0	0.000781405	0	0
TMEM109	79073	broad.mit.edu	37	11	60689575	60689575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:60689575G>A	ENST00000227525.3	+	4	1073	c.670G>A	c.(670-672)Gag>Aag	p.E224K	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.E224K	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	224						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						ACGCCAGGTGGAGGAGCTGCG	0.687000													121	111					0	0	0.000781405	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289321	132289321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:132289321C>T	ENST00000467992.2	+	2	1249	c.935C>T	c.(934-936)cCc>cTc	p.P312L	CCDC74A_ENST00000295171.6_Missense_Mutation_p.P210L|CCDC74A_ENST00000409856.3_Missense_Mutation_p.P144L			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	210										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGAGGAGCCCCTACTTCAC	0.592000													138	1103					0	0	0.000781405	0	0
CACNA1I	8911	broad.mit.edu	37	22	39996602	39996602	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:39996602G>A	ENST00000336649.4	+	5	426	c.426G>A	c.(424-426)aaG>aaA	p.K142K	CACNA1I_ENST00000407673.1_Silent_p.K142K|CACNA1I_ENST00000404898.1_Silent_p.K142K|CACNA1I_ENST00000402142.3_Silent_p.K142K|CACNA1I_ENST00000401624.1_Silent_p.K142K|CACNA1I_ENST00000400164.3_Silent_p.K142K			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	142					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTTTTGGCAAGAAGTGCTACC	0.562000													137	218					0	0	0.000781405	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23697670	23697670	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:23697670C>T	ENST00000454117.1	+	2	335	c.255C>T	c.(253-255)ctC>ctT	p.L85L	C1orf213_ENST00000437367.2_Silent_p.L85L|C1orf213_ENST00000458053.1_3'UTR|C1orf213_ENST00000518821.1_Silent_p.L22L|C1orf213_ENST00000335648.3_3'UTR																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAGGACGACTCCCCGGGCTCA	0.582000													82	120					0	0	0.000781405	0	0
TMEM260	54916	broad.mit.edu	37	14	57082683	57082683	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:57082683G>A	ENST00000261556.6	+	8	1001	c.879G>A	c.(877-879)agG>agA	p.R293R	TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Silent_p.R293R|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		CAAATATGAGGACCGAACTCT	0.318000													100	203					0	0	0.000781405	0	0
F5	2153	broad.mit.edu	37	1	169484718	169484718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:169484718C>T	ENST00000367796.3	-	24	6708	c.6507G>A	c.(6505-6507)tgG>tgA	p.W2169*	F5_ENST00000367797.3_Nonsense_Mutation_p.W2164*|F5_ENST00000495481.1_5'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2164	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATGGTTTCCATTCCACTC	0.438000													32	106					0	0	0.000692331	0	0
RP11-80F22.9	0	broad.mit.edu	37	16	34712344	34712344	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:34712344G>A	ENST00000569028.2	-	0	1010																											TTCTTAGCAGGGAAGACATAA	0.567000													10	35					0	0	0.000442599	0	0
SNRPB	6628	broad.mit.edu	37	20	2443366	2443366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2443366G>A	ENST00000339610.6	-	7	819	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	SNRPB_ENST00000381342.2_Missense_Mutation_p.P201S|SNRPB_ENST00000438552.2_Missense_Mutation_p.P201S			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	201					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCATTGGGGGACCCATAGGA	0.572000													157	266					0	0	0.000781405	0	0
CASKIN1	57524	broad.mit.edu	37	16	2228577	2228577	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2228577C>G	ENST00000343516.6	-	20	4362	c.4270G>C	c.(4270-4272)Gac>Cac	p.D1424H		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1424					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TCCAGCTGGTCGGCCAGGTCG	0.711000													86	124					0	0	0.000781405	0	0
GYS2	2998	broad.mit.edu	37	12	21727174	21727174	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:21727174C>T	ENST00000261195.2	-	4	836	c.582G>A	c.(580-582)agG>agA	p.R194R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	194					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TAGGAAGTTTCCTGGCTCGAG	0.418000													13	14					0	0	0.00010058	0	0
SORL1	6653	broad.mit.edu	37	11	121477909	121477909	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:121477909G>A	ENST00000260197.7	+	37	5205	c.5076G>A	c.(5074-5076)agG>agA	p.R1692R	SORL1_ENST00000525532.1_Silent_p.R636R|SORL1_ENST00000527934.1_Silent_p.R307R|SORL1_ENST00000532694.1_Silent_p.R538R|SORL1_ENST00000534286.1_Silent_p.R602R	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1692	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AATACAGCAGGAGTGGTTCCA	0.458000													28	169					0	0	0.000279167	0	0
PLA1A	51365	broad.mit.edu	37	3	119331934	119331934	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:119331934C>T	ENST00000273371.4	+	5	705	c.633C>T	c.(631-633)ctC>ctT	p.L211L	PLA1A_ENST00000495992.1_Silent_p.L195L|PLA1A_ENST00000494440.1_Silent_p.L195L|PLA1A_ENST00000488919.1_Silent_p.L38L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	211					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGATGCCCTCTTCGTGGAAG	0.597000													19	29					0	0	0.000958276	0	0
ZNF136	7695	broad.mit.edu	37	19	12298386	12298386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:12298386G>A	ENST00000343979.4	+	4	1333	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	ZNF136_ENST00000398616.2_Missense_Mutation_p.G332E	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	398					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AAGGTATGTGGGAAACCCTTT	0.383000													82	181					0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141759749	141759749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:141759749G>A	ENST00000475668.2	+	33	4096	c.4042G>A	c.(4042-4044)Gac>Aac	p.D1348N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1348N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1348	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAATGATGGAGACATTGTCTG	0.517000													6	6					0	0	3.59834e-05	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787572	73787572	+	Missense_Mutation	SNP	G	G	A	rs148819747		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:73787572G>A	ENST00000342056.2	+	5	1278	c.880G>A	c.(880-882)Gag>Aag	p.E294K	KCNQ5_ENST00000370398.1_Missense_Mutation_p.E294K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.E294K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E294K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E294K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E294K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E294K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E294K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	294					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.E294K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGCCAATAAAGAGTTTTCTAC	0.313000													14	6					0	0	0.000308642	0	0
INTS2	57508	broad.mit.edu	37	17	59958411	59958411	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:59958411C>T	ENST00000444766.3	-	17	2310	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	INTS2_ENST00000251334.6_Silent_p.L737L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	745					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CATTATTAGTCAGGAGCATTC	0.403000													64	97					0	0	0.000781405	0	0
BIRC6	57448	broad.mit.edu	37	2	32715118	32715118	+	Silent	SNP	T	T	C	rs149077460		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:32715118T>C	ENST00000421745.2	+	43	8240	c.8106T>C	c.(8104-8106)acT>acC	p.T2702T		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2702					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CATCAATAACTAGCTTTCTCA	0.348000													81	89					0	0	0.000781405	0	0
CDH4	1002	broad.mit.edu	37	20	60485496	60485496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:60485496G>A	ENST00000360469.5	+	9	1295	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	CDH4_ENST00000543233.1_Missense_Mutation_p.E329K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	403	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding	p.E403K(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGTCCCCGAAAACCGCGT	0.522000													154	239					0	0	0.000781405	0	0
ETV1	2115	broad.mit.edu	37	7	13971355	13971355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:13971355C>T	ENST00000343495.5	-	8	1258	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	ETV1_ENST00000405218.2_Missense_Mutation_p.E192K|ETV1_ENST00000420159.2_Missense_Mutation_p.E134K|ETV1_ENST00000403685.1_Missense_Mutation_p.E174K|ETV1_ENST00000405358.4_Missense_Mutation_p.E206K|ETV1_ENST00000399357.3_Missense_Mutation_p.E89K|ETV1_ENST00000403527.1_Missense_Mutation_p.E152K|ETV1_ENST00000242066.5_Missense_Mutation_p.E174K|ETV1_ENST00000430479.1_Missense_Mutation_p.E192K|ETV1_ENST00000405192.2_Missense_Mutation_p.E192K|ETV1_ENST00000476720.2_5'UTR			P50549	ETV1_HUMAN	ets variant 1	192					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTACAGGGTTCAGAAAGCTGG	0.468000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								42	69					0	0	0.000781405	0	0
HAUS8	93323	broad.mit.edu	37	19	17163694	17163694	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17163694C>A	ENST00000593360.1	-	9	2705	c.687G>T	c.(685-687)gtG>gtT	p.V229V	HAUS8_ENST00000253669.5_Silent_p.V290V|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Silent_p.V289V			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	290					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GTAAGTCCAGCACCTGCACAT	0.532000											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	195	365					3.15268e-66	4.5603e-65	0.000781405	1	0
GCFC2	6936	broad.mit.edu	37	2	75929358	75929358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:75929358G>A	ENST00000321027.3	-	3	719	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Nonsense_Mutation_p.Q196*|GCFC2_ENST00000470503.1_Nonsense_Mutation_p.Q196*	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	196					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										CTAAGTGTTTGAGGTCTTAGA	0.373000													207	303					0	0	0.000781405	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317818	78317818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:78317818G>A	ENST00000409931.3	-	5	940	c.869C>T	c.(868-870)cCc>cTc	p.P290L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.P290L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	290						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AAAATCAAAGGGGAATCCTGA	0.408000													52	67					0	0	0.000781405	0	0
TUSC3	7991	broad.mit.edu	37	8	15517093	15517093	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:15517093C>T	ENST00000382020.4	+	4	712	c.504C>T	c.(502-504)ctC>ctT	p.L168L	TUSC3_ENST00000506802.1_Silent_p.L168L|TUSC3_ENST00000503731.1_Silent_p.L168L|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Silent_p.L168L	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	168					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTTTTGACCTCCAAAGAATTG	0.383000													35	73					0	0	0.000409698	0	0
MYOM1	8736	broad.mit.edu	37	18	3215125	3215125	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:3215125T>G	ENST00000400569.3	-	2	430	c.97A>C	c.(97-99)Aag>Cag	p.K33Q	MYOM1_ENST00000356443.4_Missense_Mutation_p.K33Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.K33Q|RP13-270P17.2_ENST00000580139.1_RNA			P52179	MYOM1_HUMAN	myomesin 1	33						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGCGTTTCTTCTCCCGCTGG	0.642000													104	285					0	0	0.000781405	0	0
ZNF77	58492	broad.mit.edu	37	19	2936681	2936681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:2936681G>A	ENST00000314531.4	-	3	244	c.152C>T	c.(151-153)aCc>aTc	p.T51I		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCCACTGGTTCTAACATA	0.353000													174	268					0	0	0.000781405	0	0
SPAG17	200162	broad.mit.edu	37	1	118548078	118548078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:118548078C>T	ENST00000336338.5	-	32	4800	c.4735G>A	c.(4735-4737)Gtt>Att	p.V1579I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1579						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACAGATAACCTCTGAAGTA	0.453000													15	31					0	0	0.000422831	0	0
KMT2A	4297	broad.mit.edu	37	11	118373290	118373290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:118373290C>T	ENST00000534358.1	+	27	6706	c.6683C>T	c.(6682-6684)tCc>tTc	p.S2228F	KMT2A_ENST00000354520.4_Missense_Mutation_p.S2187F|KMT2A_ENST00000389506.5_Missense_Mutation_p.S2225F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AATAATGTTTCCTCAGTCTCC	0.468000													78	77					0	0	0.000781405	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032418	142032418	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142032418C>T	ENST00000547918.2	+	0	271																											ATCGGGGCTTCCCCGTGATCG	0.552000													3	10					0	0	0.00024832	0	0
C1orf173	127254	broad.mit.edu	37	1	75038879	75038879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:75038879C>T	ENST00000326665.5	-	14	2733	c.2515G>A	c.(2515-2517)Gca>Aca	p.A839T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	839	Glu-rich.							p.A839T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTCCCTCTGCCCCCCTTTCT	0.557000													23	34					0	0	0.000375601	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs138077672	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3																						TGGGCTTCCTTGAGGGAGGCA	0.522000													4	46					0	0	0.000157383	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6007457G>A	ENST00000332249.4	-	1	758	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000													80	254					0	0	0.000781405	0	0
BUD13	84811	broad.mit.edu	37	11	116633924	116633924	+	Silent	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:116633924A>T	ENST00000260210.4	-	4	404	c.381T>A	c.(379-381)tcT>tcA	p.S127S	BUD13_ENST00000375445.3_Silent_p.S127S	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	127										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCCTCCTAGGAGATGAATCCG	0.527000													883	963					0	0	0.000781405	0	0
STK31	56164	broad.mit.edu	37	7	23811884	23811884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:23811884G>A	ENST00000354639.3	+	15	2347	c.1883G>A	c.(1882-1884)aGt>aAt	p.S628N	STK31_ENST00000355870.3_Missense_Mutation_p.S651N|STK31_ENST00000428484.1_Missense_Mutation_p.S628N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.S651N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	651							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTTGAAAAGAGTAATTTGGAA	0.328000													24	31					0	0	0.000720815	0	0
APBA1	320	broad.mit.edu	37	9	72131545	72131545	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:72131545C>T	ENST00000265381.4	-	2	804	c.582G>A	c.(580-582)caG>caA	p.Q194Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	194					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACACGTGCTCCTGGAGGCCGC	0.692000													93	39					0	0	0.000781405	0	0
CRP	1401	broad.mit.edu	37	1	159683618	159683618	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:159683618G>A	ENST00000255030.5	-	2	475	c.372C>T	c.(370-372)atC>atT	p.I124I	CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000437342.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	124	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGAACTCCACGATCCCTGAGG	0.522000													268	734					0	0	0.000781405	0	0
C8A	731	broad.mit.edu	37	1	57349169	57349169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:57349169G>A	ENST00000361249.3	+	6	766	c.670G>A	c.(670-672)Gga>Aga	p.G224R		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	224	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGCAGATACTGGAATCTCCTC	0.368000													6	13					0	0	3.59834e-05	0	0
MYH15	22989	broad.mit.edu	37	3	108182072	108182072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:108182072C>T	ENST00000273353.3	-	17	1866	c.1810G>A	c.(1810-1812)Ggt>Agt	p.G604S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	604	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCAGCCAACCACTGATATTA	0.378000													19	57					0	0	0.000175454	0	0
WASH4P	374677	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:66940G>A	ENST00000326592.9	-	5	1354	c.696C>T	c.(694-696)agC>agT	p.S232S															p.S232S(1)									GCTCTCTCTTGCTGATGGACA	0.597000													41	190					0	0	0.000781405	0	0
KCNA10	3744	broad.mit.edu	37	1	111060112	111060112	+	Missense_Mutation	SNP	C	C	T	rs144405106	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:111060112C>T	ENST00000369771.2	-	1	1685	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	433						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AATCTTCCCCCCTGGGGTGGT	0.562000													22	59					0	0	0.000229342	0	0
SSU72	29101	broad.mit.edu	37	1	1509893	1509893	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1509893G>T	ENST00000359060.4	-	1	71	c.45C>A	c.(43-45)aaC>aaA	p.N15K	SSU72_ENST00000291386.3_Missense_Mutation_p.N15K			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	15					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCCGGTTCTGGTTGCTCGAGC	0.721000													103	184					4.94481e-55	7.13989e-54	0.000781405	1	0
SULT1C4	27233	broad.mit.edu	37	2	108994820	108994820	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:108994820T>C	ENST00000272452.2	+	1	353	c.27T>C	c.(25-27)ttT>ttC	p.F9F	SULT1C4_ENST00000409309.3_Silent_p.F9F	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	9					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TGGAGGATTTTACATTTGATG	0.438000													132	185					0	0	0.000781405	0	0
MYH11	4629	broad.mit.edu	37	16	15880532	15880532	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:15880532G>A	ENST00000338282.6	-	5	694	c.588C>T	c.(586-588)gcC>gcT	p.A196A	MYH11_ENST00000300036.5_Silent_p.A196A|MYH11_ENST00000576790.1_Silent_p.A196A|MYH11_ENST00000396324.3_Silent_p.A196A|MYH11_ENST00000452625.2_Silent_p.A196A	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	196	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGGCCACCACGGCCAGGTACT	0.537000			T	CBFB	AML								32	52					0	0	0.000814825	0	0
C20orf27	54976	broad.mit.edu	37	20	3740717	3740717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:3740717G>A	ENST00000217195.8	-	2	182	c.31C>T	c.(31-33)Cct>Tct	p.P11S	C20orf27_ENST00000379772.3_Intron	NM_001039140.2	NP_001034229.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	0										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACCACGCCAGGAAGGCACTTA	0.642000													273	469					0	0	0.000781405	0	0
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	RNA	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562000													5	308					0	0	0.000274275	0	0
OR52K1	390036	broad.mit.edu	37	11	4510322	4510322	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4510322T>G	ENST00000307632.3	+	1	214	c.192T>G	c.(190-192)ttT>ttG	p.F64L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTACCTCTTTCTGGCCATGT	0.483000													22	27					0	0	0.000229342	0	0
DSC2	1824	broad.mit.edu	37	18	28666641	28666641	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28666641C>T	ENST00000280904.6	-	7	1283	c.840G>A	c.(838-840)ctG>ctA	p.L280L	DSC2_ENST00000251081.6_Silent_p.L280L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	280	Cadherin 2.				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)			TGGAGTACTTCAGGCGTGTGT	0.473000													45	75					0	0	0.000589545	0	0
NUMA1	4926	broad.mit.edu	37	11	71727188	71727188	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:71727188C>A	ENST00000393695.3	-	15	1692	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.R454L|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	454					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAAGTGGCCCCGCTCAGCAAG	0.582000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	748					0.000442599	0.00615569	0.000442599	1	0
NEB	4703	broad.mit.edu	37	2	152474840	152474840	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:152474840C>T	ENST00000397345.3	-	74	11227	c.11025G>A	c.(11023-11025)acG>acA	p.T3675T	NEB_ENST00000604864.1_Silent_p.T3675T|NEB_ENST00000603639.1_Silent_p.T3675T|NEB_ENST00000427231.2_Silent_p.T3675T|NEB_ENST00000409198.1_Silent_p.T3432T|NEB_ENST00000172853.10_Silent_p.T3432T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3675					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.T3675T(1)|p.T3432T(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCGGAGTGTCCGTTATACTGG	0.423000													40	75					0	0	0.000437636	0	0
AOC1	26	broad.mit.edu	37	7	150554300	150554300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:150554300G>A	ENST00000493429.1	+	4	1326	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	AOC1_ENST00000416793.2_Missense_Mutation_p.E248K|AOC1_ENST00000360937.4_Missense_Mutation_p.E248K|AOC1_ENST00000467291.1_Missense_Mutation_p.E248K					amine oxidase, copper containing 1																		GAGCCCAGAGGAACTGGCTCG	0.637000													200	359					0	0	0.000781405	0	0
MAPK6	5597	broad.mit.edu	37	15	52356190	52356190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:52356190G>A	ENST00000261845.5	+	6	1966	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	387					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AGCTCTGTCCGATGTCACTGA	0.393000													36	52					0	0	0.000491102	0	0
FZD8	8325	broad.mit.edu	37	10	35928828	35928828	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:35928828G>A	ENST00000374694.1	-	1	1534	c.1530C>T	c.(1528-1530)atC>atT	p.I510I		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	510					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGACCGAGCGGATGCGGAAGA	0.637000													71	167					0	0	0.000781405	0	0
SNHG14	104472715	broad.mit.edu	37	15	25232075	25232075	+	RNA	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:25232075T>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA|SNORD108_ENST00000459332.1_RNA	NR_001293.1																						AGGGTTGGCTTAATGATGAGA	0.468000													47	78					0	0	0.000781405	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													4	124					0	0	0.00024832	0	0
PLCXD2	257068	broad.mit.edu	37	3	111394159	111394159	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:111394159G>T	ENST00000393934.3	+	1	637	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	PLCXD2_ENST00000477665.1_Missense_Mutation_p.G23W	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	23					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CAACCCCAGCGGGACAAAGAC	0.577000													10	608					0.000442599	0.00615569	0.000442599	1	0
PLA2G4F	255189	broad.mit.edu	37	15	42436718	42436718	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:42436718G>A	ENST00000397272.3	-	17	2002	c.1911C>T	c.(1909-1911)agC>agT	p.S637S	PLA2G4F_ENST00000382396.4_Silent_p.S635S	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	635	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGAAGTTAAAGCTCTGGGCGG	0.622000													110	176					0	0	0.000781405	0	0
MYO18B	84700	broad.mit.edu	37	22	26423107	26423107	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:26423107C>T	ENST00000335473.7	+	43	7417	c.7167C>T	c.(7165-7167)tcC>tcT	p.S2389S	MYO18B_ENST00000536101.1_Silent_p.S2389S|MYO18B_ENST00000407587.2_Silent_p.S2390S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2389						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTCTGGAGTCCTCTGTGGACG	0.597000													48	78					0	0	0.000781405	0	0
GPCPD1	56261	broad.mit.edu	37	20	5559205	5559205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:5559205G>A	ENST00000379019.4	-	8	738	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	176					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AGTACAGTGGGAGATACCCTA	0.433000													69	129					0	0	0.000781405	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323668	145323668	+	Missense_Mutation	SNP	G	G	A	rs150257348	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:145323668G>A	ENST00000342960.5	+	27	3540	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1169										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAAAGGACGAAGAAGAGGA	0.463000													14	553					0	0	0.000132079	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409727	105409727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105409727G>A	ENST00000333244.5	-	7	12180	c.12061C>T	c.(12061-12063)Cct>Tct	p.P4021S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4021						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGCGGAAGGGGGCTGAACG	0.662000													441	937					0	0	0.000781405	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943144	12943144	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12943144A>G	ENST00000235349.5	-	2	142	c.72T>C	c.(70-72)gcT>gcC	p.A24A		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	24										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGGCCAAAGCTTGGTCCC	0.577000													13	328					0	0	0.000509022	0	0
GRM4	2914	broad.mit.edu	37	6	34029805	34029805	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:34029805C>A	ENST00000374181.3	-	3	906	c.736_splice	c.e3-1	p.G246_splice	GRM4_ENST00000374177.3_Splice_Site_p.G177_splice|GRM4_ENST00000535756.1_Splice_Site_p.G113_splice|GRM4_ENST00000544773.1_Splice_Site_p.G77_splice|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000538487.1_Splice_Site_p.G246_splice|GRM4_ENST00000455714.2_Splice_Site_p.G106_splice	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	246					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCACACGCCCCCTGCAGGAGG	0.647000													10	471					2.17888e-05	0.000309121	0.000442599	1	0
ZNF814	730051	broad.mit.edu	37	19	58384993	58384993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:58384993C>T	ENST00000435989.2	-	3	1999	c.1765G>A	c.(1765-1767)Ggg>Agg	p.G589R	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	589					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G589W(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CTAAGGTGCCCGATTGAACTA	0.453000													5	85					0	0	0.000602214	0	0
VARS	7407	broad.mit.edu	37	6	31749511	31749511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31749511G>A	ENST00000375663.3	-	20	2815	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	792				S -> F (in Ref. 1; CAA41990).	translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGGCCAGAGGAGAACCAGGT	0.602000													631	1033					0	0	0.000781405	0	0
DROSHA	29102	broad.mit.edu	37	5	31526642	31526642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:31526642G>A	ENST00000511367.2	-	4	642	c.398C>T	c.(397-399)cCt>cTt	p.P133L	DROSHA_ENST00000344624.3_Missense_Mutation_p.P133L|DROSHA_ENST00000442743.1_Missense_Mutation_p.P133L|DROSHA_ENST00000513349.1_Missense_Mutation_p.P133L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	133	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGTGCCCCAGGGACTGGGGG	0.597000													17	101					0	0	0.000566183	0	0
FRMPD1	22844	broad.mit.edu	37	9	37737191	37737191	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:37737191C>T	ENST00000539465.1	+	14	2093	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	FRMPD1_ENST00000377765.3_Silent_p.F500F|FRMPD1_ENST00000541302.1_Silent_p.F369F|FRMPD1_ENST00000536622.1_Silent_p.F322F|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	500						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTCCATTTTCCTCTGGCCTG	0.522000													130	204					0	0	0.000781405	0	0
EIF3C	8663	broad.mit.edu	37	16	28734620	28734620	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:28734620C>T	ENST00000331666.6	+	9	1098	c.912C>T	c.(910-912)gtC>gtT	p.V304V	EIF3C_ENST00000566501.1_Silent_p.V304V|EIF3C_ENST00000564243.1_Silent_p.V294V|EIF3C_ENST00000395587.1_Silent_p.V304V|EIF3C_ENST00000566866.1_Silent_p.V304V			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	304						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GGGAAAGGGTCCGGGGCGGAG	0.532000													613	1965					0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38723833	38723833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:38723833G>A	ENST00000359357.3	+	8	1096	c.842G>A	c.(841-843)aGa>aAa	p.R281K	DNAH8_ENST00000449981.2_Missense_Mutation_p.R498K|DNAH8_ENST00000441566.1_Missense_Mutation_p.R281K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCTCAGAGAGAATGACCTCA	0.378000													25	67					0	0	0.000720815	0	0
CACNG8	59283	broad.mit.edu	37	19	54466543	54466543	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54466543C>T	ENST00000270458.2	+	1	250	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	49					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		ACACGCGCGCCCTCATCTGCA	0.706000													128	204					0	0	0.000781405	0	0
EPHB2	2048	broad.mit.edu	37	1	23233372	23233372	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:23233372G>A	ENST00000400191.3	+	11	2076	c.2058G>A	c.(2056-2058)gaG>gaA	p.E686E	EPHB2_ENST00000374627.1_Silent_p.E681E|EPHB2_ENST00000374632.3_Silent_p.E687E|EPHB2_ENST00000374630.3_Silent_p.E686E	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	686	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCCACCTGGAGGGTGTCGTGA	0.592000													86	182					0	0	0.000781405	0	0
OR4A47	403253	broad.mit.edu	37	11	48511177	48511177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:48511177C>T	ENST00000446524.1	+	1	909	c.833C>T	c.(832-834)cCa>cTa	p.P278L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTCATAACCCCAATGCTGAAC	0.398000													9	36					0	0	0.000274275	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821747	5821747	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:5821747C>T	ENST00000381095.3	-	5	1599	c.972G>A	c.(970-972)aaG>aaA	p.K324K	NLGN4X_ENST00000538097.1_Silent_p.K324K|NLGN4X_ENST00000381093.2_Silent_p.K344K|NLGN4X_ENST00000381092.1_Silent_p.K324K|NLGN4X_ENST00000275857.6_Silent_p.K324K	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	324					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGATGAGCTCCTTGTAGTTCT	0.592000													200	88					0	0	0.000781405	0	0
SCN7A	6332	broad.mit.edu	37	2	167304163	167304163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:167304163G>A	ENST00000409855.1	-	11	1472	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	449					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CACATCCAATGATGTGTCTGT	0.363000													23	37					0	0	0.000878237	0	0
TEX35	84066	broad.mit.edu	37	1	178491476	178491476	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:178491476G>A	ENST00000319416.2	+	9	715	c.603G>A	c.(601-603)gaG>gaA	p.E201E	TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Intron	NM_032126.4	NP_115502.2			testis expressed 35																		ttccttcagaggcctcaggcc	0.582000													26	62					0	0	0.000147802	0	0
UBB	7314	broad.mit.edu	37	17	16285329	16285329	+	Silent	SNP	T	T	C	rs16962978		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:16285329T>C	ENST00000302182.3	+	2	500	c.108T>C	c.(106-108)atT>atC	p.I36I	UBB_ENST00000395837.1_Silent_p.I36I|UBB_ENST00000395839.1_Silent_p.I36I|UBB_ENST00000535788.1_Silent_p.I36I|UBB_ENST00000578649.1_Intron	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	36	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGAAGGCATTCCCCCCGACC	0.542000													4	368					0	0	3.59834e-05	0	0
OGDH	4967	broad.mit.edu	37	7	44735718	44735718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:44735718C>T	ENST00000222673.5	+	13	1805	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L	OGDH_ENST00000447398.1_Missense_Mutation_p.P599L|OGDH_ENST00000439616.2_Missense_Mutation_p.P438L|OGDH_ENST00000449767.1_Missense_Mutation_p.P584L|OGDH_ENST00000543843.1_Missense_Mutation_p.P539L|OGDH_ENST00000444676.1_Missense_Mutation_p.P603L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	588					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTGGACTCTCCCTGGCCTGGT	0.443000													93	151					0	0	0.000781405	0	0
SLC14A2	8170	broad.mit.edu	37	18	43252881	43252881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:43252881C>T	ENST00000255226.6	+	17	3062	c.2246C>T	c.(2245-2247)cCc>cTc	p.P749L	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.P749L|SLC14A2_ENST00000589658.1_Missense_Mutation_p.P226L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	749						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAGCCATCCCCGTTGGAATT	0.488000													42	97					0	0	0.000781405	0	0
FOXK2	3607	broad.mit.edu	37	17	80543814	80543814	+	Silent	SNP	C	C	A	rs149135118	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:80543814C>A	ENST00000335255.5	+	7	1488	c.1314C>A	c.(1312-1314)acC>acA	p.T438T		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	438					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TCTTAATCACCGTCCAGCGGC	0.562000													9	569					6.40141e-05	0.000903841	6.40141e-05	1	0
AP1G1	164	broad.mit.edu	37	16	71772996	71772996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:71772996G>A	ENST00000299980.4	-	21	2558	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	AP1G1_ENST00000433195.2_Missense_Mutation_p.S729F|AP1G1_ENST00000393512.3_Missense_Mutation_p.S709F|AP1G1_ENST00000564155.1_Missense_Mutation_p.S131F|AP1G1_ENST00000569748.1_Missense_Mutation_p.S706F|AP1G1_ENST00000423132.2_Missense_Mutation_p.S709F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	706	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGCTGTGATGGAGGGGATGCC	0.398000													173	302					0	0	0.000781405	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566185	155566185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:155566185G>A	ENST00000295101.2	+	2	1250	c.773G>A	c.(772-774)gGg>gAg	p.G258E	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	258					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTAGTACAGGGGCAGATCAA	0.473000													123	222					0	0	0.000781405	0	0
KANK3	256949	broad.mit.edu	37	19	8389897	8389897	+	Missense_Mutation	SNP	C	C	T	rs35345733		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8389897C>T	ENST00000330915.3	-	8	2085	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K	KANK3_ENST00000593649.1_Missense_Mutation_p.E674K	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	674										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCATGTCCTCCTCTTCCTGC	0.632000													276	501					0	0	0.000781405	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:103698526G>A	ENST00000245312.3	-	6	1600	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000													16	27					0	0	0.00074312	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340355	29340355	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:29340355C>T	ENST00000269205.5	-	1	488	c.300G>A	c.(298-300)caG>caA	p.Q100Q	SLC25A52_ENST00000579441.2_Silent_p.Q90Q	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	90					transport	integral to membrane|mitochondrial inner membrane											TAGTTGTCTTCTGCATCAATG	0.488000													289	466					0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54804673	54804673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:54804673G>A	ENST00000306858.7	+	5	1020	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	302										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGCCCTCTGGGAAAATGGCAC	0.428000													15	22					0	0	0.000219431	0	0
CAD	790	broad.mit.edu	37	2	27449415	27449415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:27449415C>T	ENST00000264705.4	+	14	2216	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	CAD_ENST00000403525.1_Missense_Mutation_p.A622V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	685	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GAAGTGAATGCCAGGCTCTCT	0.507000													183	327					0	0	0.000781405	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117387	46117387	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46117387C>A	ENST00000400365.3	+	1	301	c.271C>A	c.(271-273)Cag>Aag	p.Q91K	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	91	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						GTCTAGCTGCCAGCCGGCTTG	0.662000													9	696					0.000673444	0.00928291	0.000673444	1	0
DSC2	1824	broad.mit.edu	37	18	28659912	28659912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28659912C>T	ENST00000280904.6	-	11	2007	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	DSC2_ENST00000251081.6_Missense_Mutation_p.E522K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	522	Cadherin 4.				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)			CCTGTATTTTCATCAATGGTG	0.328000													21	49					0	0	0.000586117	0	0
FAM72D	728833	broad.mit.edu	37	1	143912353	143912353	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:143912353C>A	ENST00000400889.1	-	0	790					NM_207418.2	NP_997301.2	Q6L9T8	FA72D_HUMAN	family with sequence similarity 72, member D											lung(1)	1						AGTAATGCTCCTACTATTTTG	0.408000													20	1632					2.17888e-05	0.000309121	0.000442599	1	0
MYH1	4619	broad.mit.edu	37	17	10405001	10405001	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:10405001C>T	ENST00000226207.5	-	26	3352	c.3257_splice	c.e26-1	p.K1086_splice	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1086						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAAACTCTTTCCTATTAGAAA	0.363000													72	33					0	0	0.000781405	0	0
LY75	4065	broad.mit.edu	37	2	160688299	160688299	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:160688299T>G	ENST00000263636.4	-	28	3869		c.e28-2		LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTTTGGATCTGTTGAATAAA	0.274000													12	29					0	0	6.40141e-05	0	0
S100A10	6281	broad.mit.edu	37	1	151958702	151958702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151958702G>A	ENST00000368811.3	-	2	664	c.5C>T	c.(4-6)cCa>cTa	p.P2L	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Missense_Mutation_p.P2L	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	2					signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATTTGAGATGGCATTTTGGT	0.378000													460	530					0	0	0.000781405	0	0
DNM1L	10059	broad.mit.edu	37	12	32871635	32871635	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:32871635C>T	ENST00000452533.2	+	7	842	c.678C>T	c.(676-678)gcC>gcT	p.A226A	DNM1L_ENST00000358214.5_Silent_p.A239A|DNM1L_ENST00000549701.1_Silent_p.A226A|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Silent_p.A226A|DNM1L_ENST00000266481.6_Silent_p.A226A|DNM1L_ENST00000553257.1_Silent_p.A239A|DNM1L_ENST00000381000.4_Silent_p.A239A	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	226	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTACTGATGCCATGGATGTAT	0.393000													50	32					0	0	0.000781405	0	0
OR4K1	79544	broad.mit.edu	37	14	20404482	20404482	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20404482C>T	ENST00000285600.4	+	1	716	c.657C>T	c.(655-657)acC>acT	p.T219T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTCCTACACCATCATTTTGA	0.443000													26	104					0	0	0.00047179	0	0
DCAF11	80344	broad.mit.edu	37	14	24587637	24587637	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24587637C>T	ENST00000446197.3	+	7	1345	c.618C>T	c.(616-618)ttC>ttT	p.F206F	DCAF11_ENST00000559115.1_Silent_p.F206F|DCAF11_ENST00000396936.1_Silent_p.F106F|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396941.4_Silent_p.F180F	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	206						CUL4 RING ubiquitin ligase complex	protein binding										ATGGCCGTTTCCGTAAATTCA	0.488000													394	679					0	0	0.000781405	0	0
FAM179A	165186	broad.mit.edu	37	2	29240746	29240746	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:29240746G>A	ENST00000379558.4	+	10	1635	c.1284G>A	c.(1282-1284)agG>agA	p.R428R	FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	428							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCATCCTGAGGAAGTGGGCCA	0.692000													67	118					0	0	0.000781405	0	0
FKBP3	2287	broad.mit.edu	37	14	45599954	45599954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:45599954G>A	ENST00000216330.3	-	3	568	c.158C>T	c.(157-159)aCa>aTa	p.T53I	FKBP3_ENST00000396062.3_Missense_Mutation_p.T53I			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	53					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGTTAGCTGTCTTGGCCAC	0.338000													90	177					0	0	0.000781405	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													8	644					0	0	6.40141e-05	0	0
GALM	130589	broad.mit.edu	37	2	38903167	38903167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:38903167G>A	ENST00000272252.5	+	2	556	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	102					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CATTAACAAGGAACCCAACAG	0.498000													97	175					0	0	0.000781405	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231004	2231004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2231004G>A	ENST00000343516.6	-	18	2457	c.2365C>T	c.(2365-2367)Cag>Tag	p.Q789*		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	789	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCAAGGGCCTGGGGAGAGCCT	0.711000													98	190					0	0	0.000781405	0	0
CIT	11113	broad.mit.edu	37	12	120288030	120288030	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:120288030G>T	ENST00000392521.2	-	5	519	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	CIT_ENST00000261833.7_Missense_Mutation_p.P155Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	155	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGGATCCACGGGCTTGTGCT	0.408000													8	453					0.000673444	0.00928291	0.000673444	1	0
CCR3	1232	broad.mit.edu	37	3	46306989	46306989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46306989C>T	ENST00000357422.2	+	4	883	c.340C>T	c.(340-342)Cac>Tac	p.H114Y	CCR3_ENST00000545097.1_Missense_Mutation_p.H135Y|CCR3_ENST00000541018.1_Missense_Mutation_p.H114Y|CCR3_ENST00000395942.2_Missense_Mutation_p.H114Y|CCR3_ENST00000395940.2_Missense_Mutation_p.H114Y			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	114					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGGGTTTTATCACACAGGCTT	0.512000													50	61					0	0	0.000781405	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097853	34097853	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:34097853T>G	ENST00000341394.4	+	5	626	c.437T>G	c.(436-438)tTa>tGa	p.L146*	CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.L65*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.L146*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.L146*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.L146*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	146					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CAGAAACGTTTAAAAACTGTA	0.388000													73	53					0	0	0.000781405	0	0
TGM5	9333	broad.mit.edu	37	15	43552311	43552311	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:43552311C>T	ENST00000220420.5	-	3	382	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	125					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACAGACCCCTGGAAGGAGT	0.612000													217	316					0	0	0.000781405	0	0
STK11IP	114790	broad.mit.edu	37	2	220478553	220478553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220478553G>A	ENST00000456909.1	+	21	2707	c.2617G>A	c.(2617-2619)Ggc>Agc	p.G873S	STK11IP_ENST00000295641.10_Missense_Mutation_p.G884S			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	884					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCCTGGCAGGCCAGAGCCT	0.667000													165	349					0	0	0.000781405	0	0
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657000													9	621					0	0	0.000308642	0	0
CDK17	5128	broad.mit.edu	37	12	96683000	96683000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:96683000G>A	ENST00000261211.3	-	11	1666	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	CDK17_ENST00000542666.1_Missense_Mutation_p.R302W|CDK17_ENST00000543119.2_Missense_Mutation_p.R355W	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	355	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TCAGGTGGCCGGTACCATAGT	0.398000													9	57					0	0	0.000274275	0	0
MARK3	4140	broad.mit.edu	37	14	103946755	103946755	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:103946755G>C	ENST00000429436.2	+	14	2024	c.1514G>C	c.(1513-1515)cGa>cCa	p.R505P	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000553942.1_Missense_Mutation_p.R505P|MARK3_ENST00000303622.9_Missense_Mutation_p.R505P|MARK3_ENST00000440884.3_Missense_Mutation_p.R426P|MARK3_ENST00000216288.7_Missense_Mutation_p.R489P|MARK3_ENST00000416682.2_Missense_Mutation_p.R528P|MARK3_ENST00000335102.5_Missense_Mutation_p.R528P	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	505							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ATGACACGACGAAATACTTAT	0.343000													82	206					0	0	0.000781405	0	0
COL25A1	84570	broad.mit.edu	37	4	109766398	109766398	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:109766398C>G	ENST00000399132.1	-	29	2055	c.1525G>C	c.(1525-1527)Gga>Cga	p.G509R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G482R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G509R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	509						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTTCATTCCATTGGCTCCC	0.433000													3	79					0	0	6.4e-05	0	0
CNOT6L	246175	broad.mit.edu	37	4	78665876	78665876	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:78665876A>G	ENST00000504123.1	-	7	843	c.713T>C	c.(712-714)cTt>cCt	p.L238P	CNOT6L_ENST00000264903.4_Missense_Mutation_p.L238P|CNOT6L_ENST00000506166.1_Intron			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	238					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGTTACCTGAAGACTAATGAT	0.383000													22	20					0	0	0.000295444	0	0
CCNF	899	broad.mit.edu	37	16	2499286	2499286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2499286C>T	ENST00000397066.4	+	12	1310	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	408					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TGTCTAGGTCCCCACTGTGGT	0.652000													234	385					0	0	0.000781405	0	0
COL7A1	1294	broad.mit.edu	37	3	48623787	48623787	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:48623787G>A	ENST00000328333.8	-	26	3635	c.3528C>T	c.(3526-3528)ccC>ccT	p.P1176P	COL7A1_ENST00000454817.1_Silent_p.P1176P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1176	Nonhelical region (NC1).|VWFA 2.				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)		CCTCACGGATGGGGCTGAATA	0.587000													854	1332					0	0	0.000781405	0	0
NLRP5	126206	broad.mit.edu	37	19	56539571	56539571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56539571C>T	ENST00000390649.3	+	7	1972	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCCCGTTCCCCTGGGGGT	0.587000													196	343					0	0	0.000781405	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291749	141291749	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:141291749A>T	ENST00000247452.3	-	3	372	c.25T>A	c.(25-27)Ttc>Atc	p.F9I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	9						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACGTTGCGGAATGGAACGCCT	0.537000										HNSCC(46;0.14)			240	101					0	0	0.000781405	0	0
MGAT3	4248	broad.mit.edu	37	22	39884653	39884653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:39884653C>T	ENST00000341184.6	+	2	1516	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	434					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AAGCTCGTGTCCGCCCAGAAT	0.662000													155	219					0	0	0.000781405	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225604	61225604	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:61225604T>A	ENST00000382768.1	+	2	188	c.188T>A	c.(187-189)tTt>tAt	p.F63Y	SERPINB12_ENST00000269491.1_Missense_Mutation_p.F63Y			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	63					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTCAACGAATTTTCCCAGAAT	0.423000													38	64					0	0	0.000319135	0	0
PCLO	27445	broad.mit.edu	37	7	82579048	82579048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82579048G>A	ENST00000423517.2	-	6	11193	c.10856C>T	c.(10855-10857)tCc>tTc	p.S3619F	PCLO_ENST00000437081.1_Missense_Mutation_p.S339F|PCLO_ENST00000333891.8_Missense_Mutation_p.S3619F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3550					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACTTTGGGGGATTTGGGTGG	0.483000													34	69					0	0	0.00058488	0	0
C9orf171	389799	broad.mit.edu	37	9	135374956	135374956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:135374956C>T	ENST00000343036.2	+	4	649	c.601C>T	c.(601-603)Cct>Tct	p.P201S	C9orf171_ENST00000393216.2_Missense_Mutation_p.P165S|C9orf171_ENST00000393215.3_Missense_Mutation_p.P165S	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	201										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCCCCCTCTCCCTCCAAACAT	0.597000													161	108					0	0	0.000781405	0	0
TRMT112	51504	broad.mit.edu	37	11	64084949	64084949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64084949C>T	ENST00000544844.1	-	1	607	c.50G>A	c.(49-51)gGg>gAg	p.G17E	TRMT112_ENST00000535126.1_Missense_Mutation_p.G6S|TRMT112_ENST00000308774.2_Missense_Mutation_p.G17E|TRMT112_ENST00000539854.1_Missense_Mutation_p.G17E|TRMT112_ENST00000535750.1_5'UTR			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	17	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						GCCACGGGACCCCACCCCCCG	0.652000													30	105					0	0	0.000227799	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471555	61471555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:61471555C>T	ENST00000398019.2	+	8	1154	c.829C>T	c.(829-831)Cct>Tct	p.P277S	SERPINB7_ENST00000546027.1_Missense_Mutation_p.P277S|SERPINB7_ENST00000540675.1_Missense_Mutation_p.P260S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P277S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	277					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGTATTTTTTCCTCAGTTCAA	0.353000													14	33					0	0	0.000219431	0	0
UNC13C	440279	broad.mit.edu	37	15	54841857	54841857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:54841857G>A	ENST00000545554.1	+	27	5845	c.5845G>A	c.(5845-5847)Gct>Act	p.A1949T	UNC13C_ENST00000537900.1_Missense_Mutation_p.A1947T|UNC13C_ENST00000260323.11_Missense_Mutation_p.A1949T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1949	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCATTGCAGCTAAAGATCT	0.343000													30	74					0	0	0.000953801	0	0
CDH23	64072	broad.mit.edu	37	10	73544845	73544845	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:73544845C>T	ENST00000224721.6	+	42	5720	c.5715C>T	c.(5713-5715)ttC>ttT	p.F1905F		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1900	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCCTTCTTCATCAATGCCA	0.597000													125	276					0	0	0.000781405	0	0
PITPNM2	57605	broad.mit.edu	37	12	123476369	123476369	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:123476369G>A	ENST00000280562.5	-	16	2686	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	PITPNM2_ENST00000320201.4_Intron|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000542749.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	812	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGTTTCCAGGAAGCCGTCCC	0.687000													56	157					0	0	0.000781405	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													7	92					0	0	8.12818e-05	0	0
PKP4	8502	broad.mit.edu	37	2	159519537	159519537	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:159519537C>T	ENST00000389757.3	+	14	2465	c.2340C>T	c.(2338-2340)gaC>gaT	p.D780D	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.D780D|PKP4_ENST00000495123.1_3'UTR	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	780					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAGCAAAGACTCTGAGCCAA	0.463000										HNSCC(62;0.18)			41	59					0	0	0.000437636	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803417	185803417	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:185803417C>T	ENST00000302277.6	+	4	3888	c.3294C>T	c.(3292-3294)atC>atT	p.I1098I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1098						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAACCACTATCCATCACACTG	0.532000													48	84					0	0	0.000680045	0	0
LILRP2	79166	broad.mit.edu	37	19	55221543	55221543	+	RNA	SNP	T	T	G	rs45452596		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:55221543T>G	ENST00000413439.1	+	0	1323																											CCTGTGAGGGTCTCCCACGGG	0.662000													4	193					0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9062265	9062265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9062265G>A	ENST00000397910.4	-	3	25384	c.25181C>T	c.(25180-25182)tCc>tTc	p.S8394F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8396	Ser-rich.|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						AGTGGATATGGAAACACTCGT	0.483000													34	37					0	0	0.000491102	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072434	34072434	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:34072434C>T	ENST00000254466.6	-	6	2109	c.2082G>A	c.(2080-2082)ggG>ggA	p.G694G	GAS2L2_ENST00000587565.1_Silent_p.G678G	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	694					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCCCAACTTCCCTTTGAGGC	0.627000													559	935					0	0	0.000781405	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735136	55735136	+	Silent	SNP	G	G	A	rs144396433		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55735136G>A	ENST00000312345.2	-	1	854	c.804C>T	c.(802-804)ttC>ttT	p.F268F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAATGGTGTAGAAAAGAGAAA	0.343000													18	70					0	0	0.000566183	0	0
SALL4	57167	broad.mit.edu	37	20	50406809	50406809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:50406809G>A	ENST00000217086.4	-	2	2324	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	738					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAAGGGGCAGGACCCACTTT	0.597000													99	178					0	0	0.000781405	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228735	57228735	+	Silent	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:57228735A>G	ENST00000396721.2	-	2	302	c.172T>C	c.(172-174)Ttg>Ctg	p.L58L	SDR16C5_ENST00000303749.3_Silent_p.L58L|SDR16C5_ENST00000522671.1_Silent_p.L58L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	58					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GCAAACTGCAAGGCTAAGAGC	0.507000													174	266					0	0	0.000781405	0	0
WASH3P	374666	broad.mit.edu	37	15	102516407	102516407	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:102516407C>T	ENST00000557932.1	+	0	1355																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						AGACTCCATCCCTCCTCTGCC	0.647000													19	207					0	0	0.000184323	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12251980	12251980	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12251980G>A	ENST00000376259.3	+	4	546	c.457_splice	c.e4+1	p.G153_splice	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Splice_Site_p.D153_splice	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	153					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GGCCAGACCAGGTACGGGGTG	0.667000													107	261					0	0	0.000781405	0	0
ZNF148	7707	broad.mit.edu	37	3	124952383	124952383	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:124952383T>A	ENST00000360647.4	-	9	1672	c.1187A>T	c.(1186-1188)aAt>aTt	p.N396I	ZNF148_ENST00000492394.1_Missense_Mutation_p.N396I|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.N396I|ZNF148_ENST00000485866.1_Missense_Mutation_p.N396I|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	396					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCTTACTATTAATTTTTTT	0.378000													22	30					0	0	0.00047179	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717675	142717675	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:142717675T>G	ENST00000381779.4	-	2	1475	c.1250A>C	c.(1249-1251)aAg>aCg	p.K417T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	417						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TACGTCTCCCTTAATCACTGT	0.383000													21	393					0	0	0.000132079	0	0
GCFC2	6936	broad.mit.edu	37	2	75933774	75933774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:75933774G>A	ENST00000321027.3	-	2	402	c.269C>T	c.(268-270)tCc>tTc	p.S90F	GCFC2_ENST00000409857.3_Missense_Mutation_p.S90F|GCFC2_ENST00000541687.1_Missense_Mutation_p.S90F|GCFC2_ENST00000470503.1_Missense_Mutation_p.S90F	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	90					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										AAGGGTTCTGGATTCTAACAG	0.343000													202	333					0	0	0.000781405	0	0
USH2A	7399	broad.mit.edu	37	1	215847603	215847603	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:215847603C>T	ENST00000366943.2	-	63	14036	c.13650G>A	c.(13648-13650)gtG>gtA	p.V4550V	USH2A_ENST00000307340.3_Silent_p.V4550V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4550	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTCCCAGTTCACTAAGATCT	0.443000										HNSCC(13;0.011)			20	74					0	0	0.000958276	0	0
ZNF488	118738	broad.mit.edu	37	10	48371278	48371278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:48371278C>T	ENST00000395702.2	+	2	973	c.746C>T	c.(745-747)cCc>cTc	p.P249L	ZNF488_ENST00000586537.1_Missense_Mutation_p.P142L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	249			P -> S (in dbSNP:rs3814160).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCCCAGGTGCCCCCACCCTCA	0.592000													213	264					0	0	0.000781405	0	0
SCN9A	6335	broad.mit.edu	37	2	167084228	167084228	+	Silent	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:167084228A>T	ENST00000303354.6	-	23	4555	c.4215T>A	c.(4213-4215)acT>acA	p.T1405T	SCN9A_ENST00000409435.1_Silent_p.T1404T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.T1393T|SCN9A_ENST00000375387.4_Silent_p.T1405T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1404						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCCCTTAAAAGTTGCCTTTA	0.274000													7	15					0	0	0.000274275	0	0
M1AP	130951	broad.mit.edu	37	2	74842098	74842098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:74842098G>A	ENST00000290536.5	-	3	535	c.419C>T	c.(418-420)tCc>tTc	p.S140F	M1AP_ENST00000536235.1_Missense_Mutation_p.S140F|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.S140F	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TACCTCCAGGGAGGTATAGGT	0.468000													66	98					0	0	0.000781405	0	0
HAO1	54363	broad.mit.edu	37	20	7886933	7886933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:7886933C>T	ENST00000378789.3	-	4	640	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	197	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAAAATTTTCCTCAGGAGAA	0.353000													16	23					0	0	0.000566183	0	0
LMTK2	22853	broad.mit.edu	37	7	97821333	97821333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:97821333C>T	ENST00000297293.5	+	11	1849	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	519					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GATCCTGGGCCCGGAAAGCAA	0.542000													156	292					0	0	0.000781405	0	0
SRRM4	84530	broad.mit.edu	37	12	119568606	119568606	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:119568606C>T	ENST00000267260.4	+	8	1126	c.738C>T	c.(736-738)ctC>ctT	p.L246L	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	246	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCAACCCCTCCAGATGCTTG	0.622000													31	28					0	0	0.000692331	0	0
C17orf66	256957	broad.mit.edu	37	17	34183756	34183756	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:34183756C>T	ENST00000311880.2	-	12	1354	c.1206G>A	c.(1204-1206)acG>acA	p.T402T	C17orf66_ENST00000592980.1_Silent_p.T362T	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	402							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AGTTCATCATCGTAGGCTTCA	0.567000													13	22					0	0	0.000151284	0	0
MYH7	4625	broad.mit.edu	37	14	23887503	23887503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:23887503G>A	ENST00000355349.3	-	30	4247	c.4085C>T	c.(4084-4086)tCc>tTc	p.S1362F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1362					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGGCCTTGGAAAGGACGCG	0.652000													262	379					0	0	0.000781405	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177636398	177636398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:177636398G>A	ENST00000358344.3	+	6	994	c.737G>A	c.(736-738)gGa>gAa	p.G246E	HNRNPAB_ENST00000504898.1_Missense_Mutation_p.G246E|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.G246E|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.G246E|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.G246E|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.G246E|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.G246E	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	246	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						GGGGGCCGTGGAAACCGCAAC	0.572000													205	115					0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38810519	38810519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:38810519C>T	ENST00000359357.3	+	33	4288	c.4034C>T	c.(4033-4035)tCa>tTa	p.S1345L	DNAH8_ENST00000449981.2_Missense_Mutation_p.S1562L|DNAH8_ENST00000441566.1_Missense_Mutation_p.S1345L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCAGTGAGTCATGTCCTCTA	0.383000													24	35					0	0	0.000375601	0	0
ZAP70	7535	broad.mit.edu	37	2	98354343	98354343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:98354343G>A	ENST00000264972.5	+	12	1821	c.1606G>A	c.(1606-1608)Ggc>Agc	p.G536S	ZAP70_ENST00000451498.2_Missense_Mutation_p.G229S|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.G410S	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	536	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CTTGTCCTACGGCCAGAAGCC	0.627000													546	820					0	0	0.000781405	0	0
TXNL1	9352	broad.mit.edu	37	18	54278309	54278309	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:54278309T>G	ENST00000217515.6	-	7	959	c.755A>C	c.(754-756)cAa>cCa	p.Q252P	TXNL1_ENST00000590954.1_Missense_Mutation_p.Q252P|TXNL1_ENST00000540155.1_Missense_Mutation_p.Q129P	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	252	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CTCTTCACCTTGATTCGACTG	0.289000													15	18					0	0	0.000308642	0	0
SORCS3	22986	broad.mit.edu	37	10	106849544	106849544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:106849544G>A	ENST00000369701.3	+	6	1267	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	347						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCGGTGGCCGGATTGGATAAG	0.587000													33	45					0	0	0.000953801	0	0
OR5K4	403278	broad.mit.edu	37	3	98073395	98073395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:98073395G>A	ENST00000354924.2	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCCAAGGAGGGAAGAGGTAAA	0.353000													19	31					0	0	0.00074312	0	0
ACSL6	23305	broad.mit.edu	37	5	131303687	131303687	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:131303687G>A	ENST00000379264.2	-	16	1650	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	ACSL6_ENST00000431707.1_Silent_p.I469I|ACSL6_ENST00000379240.1_Silent_p.I489I|ACSL6_ENST00000379272.2_Silent_p.I504I|ACSL6_ENST00000543479.1_Silent_p.I489I|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379246.1_Silent_p.I500I|ACSL6_ENST00000544770.1_Silent_p.I398I|ACSL6_ENST00000379244.1_Silent_p.I489I|ACSL6_ENST00000379255.1_Silent_p.I414I|ACSL6_ENST00000296869.4_Silent_p.I514I|ACSL6_ENST00000357096.1_Silent_p.I414I|ACSL6_ENST00000379249.3_Silent_p.I489I	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	489					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAACGAGCTTGATATGATTGC	0.488000													79	63					0	0	0.000781405	0	0
NR2E3	10002	broad.mit.edu	37	15	72109899	72109899	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:72109899G>A	ENST00000563709.1	+	0	99																											TCAGGTTTGGGAAATTGCTCC	0.552000													263	576					0	0	0.000781405	0	0
ZNF280C	55609	broad.mit.edu	37	X	129377802	129377802	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:129377802T>C	ENST00000370978.4	-	4	369	c.216A>G	c.(214-216)aaA>aaG	p.K72K		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	72	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCTTTATTCCTTTTGAAGATG	0.244000													2	9					0	0	6.4e-05	0	0
MDH2	4191	broad.mit.edu	37	7	75695601	75695601	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:75695601A>G	ENST00000315758.5	+	9	984	c.890A>G	c.(889-891)aAg>aGg	p.K297R	MDH2_ENST00000443006.1_Missense_Mutation_p.K190R|MDH2_ENST00000432020.2_Missense_Mutation_p.K255R	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	297					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CCTCAGAAAAAGGGCATCGAG	0.522000													4	521					0	0	0.00024832	0	0
ARMC4	55130	broad.mit.edu	37	10	28228936	28228936	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:28228936C>T	ENST00000305242.5	-	14	2079	c.1986_splice	c.e14-1	p.E663_splice	ARMC4_ENST00000545014.1_Splice_Site_p.E188_splice|ARMC4_ENST00000537576.1_Splice_Site_p.E355_splice	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	663							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CGGTAGTTTTCCTAGGAATAA	0.368000													6	17					0	0	0.000274275	0	0
FAM47A	158724	broad.mit.edu	37	X	34149124	34149124	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:34149124G>A	ENST00000346193.3	-	1	1323	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	424										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTATAGTAGGAGATTGGACA	0.547000													94	29					0	0	0.000781405	0	0
NLRC4	58484	broad.mit.edu	37	2	32475921	32475921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:32475921G>A	ENST00000404025.2	-	5	1500	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	NLRC4_ENST00000360906.5_Missense_Mutation_p.P338S|NLRC4_ENST00000402280.1_Missense_Mutation_p.P338S|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	338	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACAAAGAGAGGGGTCTTCATG	0.478000													48	63					0	0	0.000781405	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943111	12943111	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12943111T>C	ENST00000235349.5	-	2	175	c.105A>G	c.(103-105)acA>acG	p.T35T		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	35										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAAAGTTCTGTGGGCAGCT	0.617000													4	249					0	0	0.00074312	0	0
OR5P2	120065	broad.mit.edu	37	11	7817549	7817549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:7817549C>T	ENST00000329434.2	-	1	971	c.941G>A	c.(940-942)aGt>aAt	p.S314N	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGTTCTACTAAAATAACA	0.373000													47	37					0	0	0.000781405	0	0
CAND2	23066	broad.mit.edu	37	3	12859246	12859246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:12859246G>A	ENST00000456430.2	+	10	2856	c.2815G>A	c.(2815-2817)Gcc>Acc	p.A939T	CAND2_ENST00000295989.5_Missense_Mutation_p.A846T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	939					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGACATCTGGGCCTTGCTGTT	0.667000													447	655					0	0	0.000781405	0	0
FAM183B	340286	broad.mit.edu	37	7	38725323	38725323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:38725323C>T	ENST00000409072.3	-	2	1217	c.283G>A	c.(283-285)Gac>Aac	p.D95N						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GCTTCTGAGTCCCACCCAATT	0.532000													102	196					0	0	0.000781405	0	0
DFNA5	1687	broad.mit.edu	37	7	24742400	24742400	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:24742400G>A	ENST00000545231.1	-	11	1894	c.744C>T	c.(742-744)atC>atT	p.I248I	DFNA5_ENST00000409775.3_Silent_p.I412I|DFNA5_ENST00000342947.3_Silent_p.I412I|DFNA5_ENST00000409970.1_Silent_p.I248I|DFNA5_ENST00000419307.1_Silent_p.I248I			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	412					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GTGTGGGAATGATCTGGAGTT	0.507000													163	253					0	0	0.000781405	0	0
UNC93A	54346	broad.mit.edu	37	6	167721271	167721271	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:167721271G>A	ENST00000230256.3	+	7	1156	c.981G>A	c.(979-981)gcG>gcA	p.A327A	UNC93A_ENST00000366829.2_Silent_p.A285A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	327						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCCAGGCGCGGTGACCCACG	0.627000													111	118					0	0	0.000781405	0	0
TIAM2	26230	broad.mit.edu	37	6	155450878	155450878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:155450878G>A	ENST00000461783.3	+	6	1794	c.521G>A	c.(520-522)aGg>aAg	p.R174K	TIAM2_ENST00000318981.5_Missense_Mutation_p.R174K|TIAM2_ENST00000529824.2_Missense_Mutation_p.R174K|TIAM2_ENST00000456144.1_Missense_Mutation_p.R174K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R174K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	174					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGTGTTTAAGGGTCGAGTTC	0.587000													57	37					0	0	0.000781405	0	0
ECM1	1893	broad.mit.edu	37	1	150484887	150484887	+	Silent	SNP	C	C	T	rs143543113		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:150484887C>T	ENST00000369047.4	+	8	1268	c.1143C>T	c.(1141-1143)caC>caT	p.H381H	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.H256H|ECM1_ENST00000369049.4_Silent_p.H408H	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	381	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCACCACCACTTGTGTTGCC	0.567000													222	684					0	0	0.000781405	0	0
TNKS2	80351	broad.mit.edu	37	10	93614874	93614874	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:93614874G>A	ENST00000371627.4	+	22	3283	c.2904G>A	c.(2902-2904)gtG>gtA	p.V968V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	968	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTCAGTCTGTGGAGGAAGAGG	0.338000													26	40					0	0	0.000147802	0	0
MYH15	22989	broad.mit.edu	37	3	108117529	108117529	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:108117529T>G	ENST00000273353.3	-	36	5204	c.5148A>C	c.(5146-5148)gaA>gaC	p.E1716D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1716						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCAGGAGCTCTTCTTCTGACA	0.527000													81	132					0	0	0.000781405	0	0
ANK1	286	broad.mit.edu	37	8	41581085	41581085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:41581085C>T	ENST00000396942.1	-	8	861	c.778G>A	c.(778-780)Gat>Aat	p.D260N	ANK1_ENST00000347528.4_Missense_Mutation_p.D260N|ANK1_ENST00000396945.1_Missense_Mutation_p.D260N|ANK1_ENST00000379758.2_Missense_Mutation_p.D260N|ANK1_ENST00000265709.8_Missense_Mutation_p.D293N|ANK1_ENST00000289734.7_Missense_Mutation_p.D260N|ANK1_ENST00000352337.4_Missense_Mutation_p.D260N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	260	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTCCCCGATCCAGCAGCAGC	0.652000													250	497					0	0	0.000781405	0	0
ARID2	196528	broad.mit.edu	37	12	46246056	46246056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:46246056C>T	ENST00000334344.6	+	15	4322	c.4150C>T	c.(4150-4152)Cat>Tat	p.H1384Y	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.H1235Y|ARID2_ENST00000444670.1_Missense_Mutation_p.H994Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1384					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACTTCCAATCATGTAGGAAA	0.348000			"""N, S, F"""		hepatocellular carcinoma								7	19					0	0	8.12818e-05	0	0
TMEM116	89894	broad.mit.edu	37	12	112371783	112371783	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:112371783C>A	ENST00000354825.3	-	11	1019	c.364G>T	c.(364-366)Ggc>Tgc	p.G122C	TMEM116_ENST00000437003.2_Missense_Mutation_p.G122C|TMEM116_ENST00000552374.2_Missense_Mutation_p.G214C|TMEM116_ENST00000355445.3_Missense_Mutation_p.G179C|TMEM116_ENST00000550831.3_Missense_Mutation_p.G122C|TMEM116_ENST00000549537.2_Missense_Mutation_p.G28C			Q8NCL8	TM116_HUMAN	transmembrane protein 116	122						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						CCCAGAAAGCCAGTTGACTTC	0.473000													40	48					6.29468e-14	9.0209e-13	0.000953801	1	0
TCTN2	79867	broad.mit.edu	37	12	124191370	124191370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:124191370C>T	ENST00000303372.5	+	16	1995	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S	TCTN2_ENST00000426174.2_Missense_Mutation_p.P622S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	623					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TATTAAAATTCCTGCACAGTT	0.453000													141	169					0	0	0.000781405	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064086	1064086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:1064086C>T	ENST00000264930.5	-	20	2655	c.2612G>A	c.(2611-2613)tGg>tAg	p.W871*		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	871					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCACTTCCTCCACACCTGCAG	0.647000													61	329					0	0	0.000781405	0	0
NOL4	8715	broad.mit.edu	37	18	31803001	31803001	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:31803001C>G	ENST00000261592.5	-	1	514	c.217G>C	c.(217-219)Gga>Cga	p.G73R	NOL4_ENST00000589544.1_Missense_Mutation_p.G73R|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	73						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCGCCGCCTCCCCCGCGGACC	0.622000													195	300					0	0	0.000781405	0	0
SYTL2	54843	broad.mit.edu	37	11	85468696	85468696	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:85468696G>A	ENST00000316356.4	-	2	637	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L|SYTL2_ENST00000524452.1_Silent_p.L25L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	25	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCCCTCTTCAGAGCAGCATCC	0.478000													48	161					0	0	0.000781405	0	0
HERC1	8925	broad.mit.edu	37	15	63908060	63908060	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:63908060G>A	ENST00000443617.2	-	76	14088	c.14001C>T	c.(13999-14001)atC>atT	p.I4667I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4667	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCCACCAGGGATTATAGGAA	0.403000													20	40					0	0	0.000375601	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526055	68526055	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:68526055C>T	ENST00000433211.1	-	9	1422	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.A416A	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	416					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATGAAATATCGCAGCATATT	0.433000													11	27					0	0	6.40141e-05	0	0
LPA	4018	broad.mit.edu	37	6	161020670	161020670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:161020670C>T	ENST00000447678.1	-	21	3269	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E	LPA_ENST00000316300.5_Missense_Mutation_p.G1050E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3558	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCCTGTACCCCGGGGGTTTC	0.433000													35	10					0	0	0.00058488	0	0
PTTG2	10744	broad.mit.edu	37	4	37962566	37962566	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:37962566T>G	ENST00000504686.1	+	1	511	c.511T>G	c.(511-513)Tct>Gct	p.S171A	TBC1D1_ENST00000261439.4_Intron|TBC1D1_ENST00000508802.1_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	171					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						GAAAATGCCCTCTCCACCATG	0.488000													113	252					0	0	0.000781405	0	0
DMBT1	1755	broad.mit.edu	37	10	124392781	124392781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124392781C>T	ENST00000338354.3	+	49	6191	c.6085C>T	c.(6085-6087)Cca>Tca	p.P2029S	DMBT1_ENST00000344338.3_Missense_Mutation_p.P2019S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P2029S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P749S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1401S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1401S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2019S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2029	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGGGAACTATCCAAACAATGC	0.493000													87	224					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855765	228855765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:228855765C>T	ENST00000392056.3	-	11	4956	c.4910G>A	c.(4909-4911)gGg>gAg	p.G1637E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1608E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1637						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTGGGAATCCCCAGTTCAGA	0.483000													9	22					0	0	0.00010058	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657849	34657849	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:34657849G>A	ENST00000314891.6	-	2	345	c.168C>T	c.(166-168)atC>atT	p.I56I	LPCAT4_ENST00000562431.1_5'UTR	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	56					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GAAAGAGGACGATAAAGGCCA	0.557000													223	280					0	0	0.000781405	0	0
CORO2B	10391	broad.mit.edu	37	15	69011130	69011130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:69011130C>T	ENST00000543950.1	+	9	1400	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	CORO2B_ENST00000261861.5_Missense_Mutation_p.S349F|CORO2B_ENST00000540068.1_Missense_Mutation_p.S349F|CORO2B_ENST00000566799.1_Missense_Mutation_p.S354F	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	354					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGCCCATCTCCATGATCGTG	0.627000													102	137					0	0	0.000781405	0	0
STAB1	23166	broad.mit.edu	37	3	52547982	52547982	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52547982C>T	ENST00000321725.6	+	32	3508	c.3432C>T	c.(3430-3432)ttC>ttT	p.F1144F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1144	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAGCCTCTTCCGGGAATTGC	0.657000													445	606					0	0	0.000781405	0	0
SNRK	54861	broad.mit.edu	37	3	43373670	43373670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:43373670G>A	ENST00000296088.7	+	4	903	c.599G>A	c.(598-600)aGt>aAt	p.S200N	SNRK_ENST00000454177.1_Missense_Mutation_p.S200N|SNRK_ENST00000429705.2_Missense_Mutation_p.S200N|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_5'UTR	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	200	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GATATTTGGAGTCTGGGAGTG	0.348000													30	74					0	0	0.000409698	0	0
MUC16	94025	broad.mit.edu	37	19	9066502	9066502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9066502C>T	ENST00000397910.4	-	3	21147	c.20944G>A	c.(20944-20946)Gag>Aag	p.E6982K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6984	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						CTGGAGACCTCAGCAGTAGTA	0.483000													42	77					0	0	0.000228196	0	0
ZBTB34	403341	broad.mit.edu	37	9	129643003	129643003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:129643003C>T	ENST00000319119.4	+	2	1410	c.1325C>T	c.(1324-1326)cCa>cTa	p.P442L	ZBTB34_ENST00000373452.2_Missense_Mutation_p.P438L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						AAGTGCTTTCCATTCCAAGGT	0.532000													82	29					0	0	0.000781405	0	0
PAMR1	25891	broad.mit.edu	37	11	35492367	35492367	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:35492367C>T	ENST00000378880.2	-	5	940		c.e5-1		PAMR1_ENST00000278360.3_Splice_Site|PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000534803.1_Splice_Site|PAMR1_ENST00000532848.1_Splice_Site	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1						proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATGACAAATCTGTGGGTGGA	0.547000													4	14					0	0	0.00024832	0	0
LAMP5	24141	broad.mit.edu	37	20	9497006	9497006	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:9497006G>C	ENST00000246070.2	+	4	965	c.473G>C	c.(472-474)aGt>aCt	p.S158T	LAMP5_ENST00000427562.2_Missense_Mutation_p.S114T	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	158			S -> G (in dbSNP:rs2232266).			integral to membrane											GACGCAGTCAGTGGTGAGTGG	0.557000													197	332					0	0	0.000781405	0	0
MYLK	4638	broad.mit.edu	37	3	123452564	123452564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:123452564C>T	ENST00000360772.3	-	11	1657	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	MYLK_ENST00000346322.5_Missense_Mutation_p.E427K|MYLK_ENST00000359169.1_Missense_Mutation_p.E427K|MYLK_ENST00000360304.3_Missense_Mutation_p.E427K|MYLK_ENST00000475616.1_Missense_Mutation_p.E427K			Q15746	MYLK_HUMAN	myosin light chain kinase	427	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTTGATTTTCCTTGACCTCC	0.507000													103	217					0	0	0.000781405	0	0
FAM50A	9130	broad.mit.edu	37	X	153678616	153678616	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:153678616C>T	ENST00000393600.3	+	12	1070	c.960C>T	c.(958-960)ccC>ccT	p.P320P		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	320					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	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)					ACATCTTTCCCGCCAGCCGCT	0.627000													389	114					0	0	0.000781405	0	0
ACSBG2	81616	broad.mit.edu	37	19	6183239	6183239	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:6183239G>A	ENST00000588304.1	+	10	1574	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	ACSBG2_ENST00000591403.1_Silent_p.S426S|ACSBG2_ENST00000588485.1_Silent_p.S239S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Silent_p.S426S|ACSBG2_ENST00000252669.5_Silent_p.S426S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	426					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGAGCTCGGGACCCCACA	0.547000													49	105					0	0	0.000781405	0	0
FYB	2533	broad.mit.edu	37	5	39153647	39153647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:39153647G>A	ENST00000351578.6	-	3	1385	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	FYB_ENST00000540520.1_Missense_Mutation_p.H409Y|FYB_ENST00000505428.1_Missense_Mutation_p.H399Y|FYB_ENST00000512982.1_Missense_Mutation_p.H399Y|FYB_ENST00000515010.1_Missense_Mutation_p.H399Y	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	399	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGGCCGGATGGGATGGTGGA	0.488000													69	194					0	0	0.000781405	0	0
SH3GL2	6456	broad.mit.edu	37	9	17793433	17793433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:17793433C>T	ENST00000380607.4	+	8	917	c.797C>T	c.(796-798)cCa>cTa	p.P266L	SH3GL2_ENST00000537391.1_Missense_Mutation_p.P219L	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	266					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTGGAGTTTCCAACTGGAGAC	0.473000													22	17					0	0	0.000229342	0	0
MTUS1	57509	broad.mit.edu	37	8	17579395	17579395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:17579395C>T	ENST00000381861.3	-	1	335	c.16G>A	c.(16-18)Gga>Aga	p.G6R	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTGCGAAATCCTCCTGGTACA	0.418000													25	44					0	0	0.000227799	0	0
KMT2C	58508	broad.mit.edu	37	7	151962153	151962153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:151962153C>T	ENST00000355193.2	-	8	1372	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.C385Y					lysine (K)-specific methyltransferase 2C																		GCACTCAGGACATTGCCAACC	0.423000													14	214					0	0	0.000295444	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553918	84553918	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:84553918G>A	ENST00000286744.5	+	10	1250	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	ADAMTSL3_ENST00000567476.1_Silent_p.Q342Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	342						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAGTCATCAGTGGAGACAAA	0.468000													8	26					0	0	0.000274275	0	0
ATP7A	538	broad.mit.edu	37	X	77276522	77276522	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:77276522G>A	ENST00000341514.6	+	14	3017	c.2862G>A	c.(2860-2862)ttG>ttA	p.L954L	ATP7A_ENST00000343533.5_Silent_p.L876L|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	954					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						CCACCCTCTTGGTATGGATTG	0.348000													267	82					0	0	0.000781405	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135361	126135361	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:126135361C>T	ENST00000299308.3	+	7	1769	c.1761C>T	c.(1759-1761)acC>acT	p.T587T	TMEM132B_ENST00000535886.1_Silent_p.T99T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	587						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAGCTGACCTACATGCTGG	0.582000													26	38					0	0	0.000720815	0	0
SCN5A	6331	broad.mit.edu	37	3	38647610	38647610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:38647610C>T	ENST00000413689.1	-	10	1363	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	SCN5A_ENST00000333535.4_Missense_Mutation_p.M390I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M390I|SCN5A_ENST00000425664.1_Missense_Mutation_p.M390I|SCN5A_ENST00000423572.2_Missense_Mutation_p.M390I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M390I|SCN5A_ENST00000451551.2_Missense_Mutation_p.M390I|SCN5A_ENST00000414099.2_Missense_Mutation_p.M390I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M390I|SCN5A_ENST00000449557.2_Missense_Mutation_p.M390I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	390					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGAAGAAGATCATGTAGATCT	0.567000													131	236					0	0	0.000781405	0	0
ADH4	127	broad.mit.edu	37	4	100047829	100047829	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:100047829T>A	ENST00000508393.1	-	9	1256	c.1091A>T	c.(1090-1092)aAa>aTa	p.K364I	ADH4_ENST00000423445.1_Missense_Mutation_p.K364I|ADH4_ENST00000265512.7_Missense_Mutation_p.K345I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.K364I			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	345					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CAGATTGAATTTCTTATTCTT	0.388000													151	80					0	0	0.000781405	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958469	21958469	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:21958469C>T	ENST00000289921.7	+	12	1648	c.1602C>T	c.(1600-1602)acC>acT	p.T534T		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	534										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCAGTGACCGAGATCGTCA	0.483000													138	250					0	0	0.000781405	0	0
CCDC11	220136	broad.mit.edu	37	18	47777856	47777856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:47777856G>A	ENST00000398545.4	-	4	889	c.772C>T	c.(772-774)Ctt>Ttt	p.L258F		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	258										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CCCACCACAAGGCGTGCCTCC	0.542000													149	205					0	0	0.000781405	0	0
WNT7A	7476	broad.mit.edu	37	3	13896034	13896034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:13896034G>A	ENST00000285018.4	-	3	869	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	189					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCTACCTTTCGGCCTGCCTCG	0.587000													538	899					0	0	0.000781405	0	0
DLC1	10395	broad.mit.edu	37	8	13162805	13162805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:13162805G>A	ENST00000276297.4	-	5	1730	c.1321C>T	c.(1321-1323)Caa>Taa	p.Q441*	DLC1_ENST00000316609.5_Nonsense_Mutation_p.Q441*|DLC1_ENST00000511869.1_Nonsense_Mutation_p.Q441*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	441					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAAATACCTTGAATAGCCTGA	0.303000													64	105					0	0	0.000781405	0	0
BCAR3	8412	broad.mit.edu	37	1	94049648	94049648	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:94049648G>A	ENST00000370244.1	-	8	1248	c.960C>T	c.(958-960)gcC>gcT	p.A320A	BCAR3_ENST00000370247.3_Silent_p.A229A|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.A320A|BCAR3_ENST00000539242.1_5'UTR|BCAR3_ENST00000370243.1_Silent_p.A320A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	320					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GATCCAGGCAGGCGGGCTGGC	0.458000													129	209					0	0	0.000781405	0	0
ECI1	1632	broad.mit.edu	37	16	2294496	2294496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2294496G>A	ENST00000301729.4	-	4	399	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	ECI1_ENST00000562238.1_Missense_Mutation_p.P118S|ECI1_ENST00000570258.1_Missense_Mutation_p.P59S	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	118					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						TAGTGGGCGGGGCTCCTCCCA	0.667000													65	121					0	0	0.000781405	0	0
PARD6G	84552	broad.mit.edu	37	18	77917846	77917846	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:77917846G>A	ENST00000353265.3	-	3	1136	c.939C>T	c.(937-939)ccC>ccT	p.P313P	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	313					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CCGGGGTCTGGGGGGGACGTG	0.746000													39	50					0	0	0.000437636	0	0
NOD2	64127	broad.mit.edu	37	16	50765666	50765666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:50765666G>A	ENST00000300589.2	+	12	3164	c.3059G>A	c.(3058-3060)gGg>gAg	p.G1020E		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1020					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)				AGGCTCCGAGGGAACACTTTC	0.483000													89	179					0	0	0.000781405	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154633	9154633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:9154633G>A	ENST00000382496.5	-	12	2113	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	483	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCTCTTCAGGGGGATCTTGAC	0.637000													23	39					0	0	0.00047179	0	0
C18orf8	29919	broad.mit.edu	37	18	21099071	21099071	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:21099071A>T	ENST00000269221.3	+	9	892	c.782A>T	c.(781-783)aAt>aTt	p.N261I	C18orf8_ENST00000590868.1_Missense_Mutation_p.N213I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	261										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTGAAGTTAAATAGGACGGGA	0.418000													79	124					0	0	0.000781405	0	0
RBM5	10181	broad.mit.edu	37	3	50129560	50129560	+	Silent	SNP	G	G	A	rs146767621	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:50129560G>A	ENST00000347869.3	+	3	277	c.102G>A	c.(100-102)cgG>cgA	p.R34R	RBM5_ENST00000469838.1_Silent_p.R34R	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	34					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGCAGGCGGAGGGACTCAG	0.498000													182	280					0	0	0.000781405	0	0
CLASP1	23332	broad.mit.edu	37	2	122104659	122104659	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:122104659G>A	ENST00000263710.4	-	39	4874	c.4485C>T	c.(4483-4485)atC>atT	p.I1495I	CLASP1_ENST00000397587.3_Silent_p.I1435I|CLASP1_ENST00000455322.2_Silent_p.I1451I|CLASP1_ENST00000545861.1_Silent_p.I1202I|CLASP1_ENST00000541377.1_Silent_p.I1434I|CLASP1_ENST00000409078.3_Silent_p.I1428I|CLASP1_ENST00000541859.1_Silent_p.I1212I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1495	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGTCTTCTCCGATTACGGAAT	0.502000													28	45					0	0	0.000339439	0	0
VWA5A	4013	broad.mit.edu	37	11	123993780	123993780	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:123993780A>G	ENST00000456829.2	+	8	1125	c.874A>G	c.(874-876)Atg>Gtg	p.M292V	VWA5A_ENST00000361352.5_Missense_Mutation_p.M292V|VWA5A_ENST00000392748.1_Missense_Mutation_p.M292V|VWA5A_ENST00000360334.4_Missense_Mutation_p.M292V|VWA5A_ENST00000449321.1_Missense_Mutation_p.M292V|VWA5A_ENST00000392744.4_Missense_Mutation_p.M308V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	292	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCGGGAAGTATGCAGAGCCC	0.463000													23	96					0	0	0.000229342	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701399	195701399	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195701399G>A	ENST00000427841.1	-	0	1425					NR_003264.2																						CGTACAGGCCGGGCACAATCT	0.587000													93	518					0	0	0.000781405	0	0
CER1	9350	broad.mit.edu	37	9	14722307	14722307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:14722307C>T	ENST00000380911.3	-	1	408	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	122					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GGAGATTTCTCCATTTTCATT	0.507000													49	72					0	0	0.000781405	0	0
PACS1	55690	broad.mit.edu	37	11	66006668	66006668	+	Silent	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:66006668C>G	ENST00000320580.4	+	21	2382	c.2349C>G	c.(2347-2349)ccC>ccG	p.P783P	PACS1_ENST00000529757.1_Silent_p.P319P	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	783					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CATCACCACCCTCCAGCTCGG	0.632000													188	266					0	0	0.000781405	0	0
USP17L2	377630	broad.mit.edu	37	8	11995798	11995798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:11995798G>A	ENST00000333796.3	-	1	788	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	158					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCATCTTCCTGCTTGCCTCTA	0.527000													4	36					0	0	0.00024832	0	0
SMG5	23381	broad.mit.edu	37	1	156252434	156252434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156252434G>A	ENST00000361813.5	-	1	182	c.38C>T	c.(37-39)cCc>cTc	p.P13L	SMG5_ENST00000368267.4_Missense_Mutation_p.P13L	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	13					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTTTGCTTCGGGCTCGCTGCT	0.701000													199	179					0	0	0.000781405	0	0
TMX4	56255	broad.mit.edu	37	20	7963025	7963025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:7963025G>A	ENST00000246024.2	-	8	1138	c.923C>T	c.(922-924)aCc>aTc	p.T308I		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	308	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TTCCTCCCGGGTCACACCGTC	0.582000													19	35					0	0	0.000229342	0	0
TNN	63923	broad.mit.edu	37	1	175046873	175046873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:175046873G>A	ENST00000239462.4	+	2	432	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	107					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGTGTCCAGGACCTCCTGGC	0.607000													265	261					0	0	0.000781405	0	0
CCDC50	152137	broad.mit.edu	37	3	191093238	191093238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:191093238C>T	ENST00000392456.3	+	6	1426	c.836C>T	c.(835-837)tCc>tTc	p.S279F	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	296						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCACCCAAGTCCTCACAAAAA	0.483000													12	17					0	0	0.000219431	0	0
SLC22A17	51310	broad.mit.edu	37	14	23818588	23818588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:23818588G>A	ENST00000354772.3	-	4	922	c.419C>T	c.(418-420)cCc>cTc	p.P140L	SLC22A17_ENST00000397260.3_Missense_Mutation_p.P29L|SLC22A17_ENST00000206544.8_Missense_Mutation_p.P140L|SLC22A17_ENST00000397267.1_Missense_Mutation_p.P140L|SLC22A17_ENST00000474057.1_5'UTR	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	140					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TACTCCACAGGGGCCCACCAG	0.612000													97	165					0	0	0.000781405	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783481	115783481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:115783481C>T	ENST00000343348.6	-	19	2708	c.1921G>A	c.(1921-1923)Ggc>Agc	p.G641S	SEMA6A_ENST00000510263.1_Missense_Mutation_p.G641S|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G118S|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G658S|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.G68S|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000503865.1_Missense_Mutation_p.G20S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	641					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGTCGTGGCCTTTGAGGTAA	0.537000													27	105					0	0	0.000720815	0	0
SGMS1	259230	broad.mit.edu	37	10	52103386	52103386	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:52103386C>T	ENST00000361781.2	-	7	1448	c.489G>A	c.(487-489)aaG>aaA	p.K163K	SGMS1_ENST00000361543.2_Silent_p.K163K|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	169					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGCACCTCCTTAGGAGGTA	0.478000													38	66					0	0	0.000191422	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580522	35580522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:35580522C>T	ENST00000373330.1	+	11	3265	c.3091C>T	c.(3091-3093)Cga>Tga	p.R1031*	ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.R1031*|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1031						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGATTTTATCGACATTATGC	0.328000													240	419					0	0	0.000781405	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													8	672					0	0	6.40141e-05	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006426	118006426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:118006426C>T	ENST00000310754.4	-	1	310	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	42					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TCTGCTGTTCCCTCGAACACA	0.537000													76	302					0	0	0.000781405	0	0
OR51B5	282763	broad.mit.edu	37	11	5364499	5364499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5364499C>T	ENST00000300773.2	-	1	310	c.256G>A	c.(256-258)Gat>Aat	p.D86N	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCTGTGATCCAGCCAGAGG	0.557000													6	13					0	0	3.59834e-05	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420303	55420303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:55420303C>T	ENST00000242994.3	+	2	458	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	27					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						GGTCTGGGCTCCCAAAATGAG	0.453000													19	36					0	0	0.000132079	0	0
PCBP3	54039	broad.mit.edu	37	21	47333947	47333947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:47333947C>T	ENST00000400304.1	+	7	587	c.587C>T	c.(586-588)gCc>gTc	p.A196V	PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000400310.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	225					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTAAGAGCCGATCCGCTC	0.607000													146	59					0	0	0.000781405	0	0
FBXO7	25793	broad.mit.edu	37	22	32875101	32875101	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:32875101A>G	ENST00000266087.7	+	2	583	c.256A>G	c.(256-258)Aat>Gat	p.N86D	FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000465418.1_3'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	86					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCAGCGCCTAATATACCTTC	0.453000													425	771					0	0	0.000781405	0	0
CDH22	64405	broad.mit.edu	37	20	44815301	44815301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:44815301C>T	ENST00000372262.3	-	9	1989	c.1589G>A	c.(1588-1590)gGc>gAc	p.G530D	CDH22_ENST00000537909.1_Missense_Mutation_p.G530D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	530	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCGGTGCCCGCCTTGGGGCTC	0.587000													132	184					0	0	0.000781405	0	0
CELF4	56853	broad.mit.edu	37	18	34901826	34901826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:34901826C>T	ENST00000420428.2	-	3	783	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	CELF4_ENST00000603232.1_Missense_Mutation_p.V130M|CELF4_ENST00000412753.1_Missense_Mutation_p.V130M|CELF4_ENST00000591287.1_Missense_Mutation_p.V130M|CELF4_ENST00000361795.5_Missense_Mutation_p.V130M|CELF4_ENST00000334919.5_Missense_Mutation_p.V130M|CELF4_ENST00000591282.1_Missense_Mutation_p.V130M|CELF4_ENST00000588597.1_Missense_Mutation_p.V130M|CELF4_ENST00000601019.1_Missense_Mutation_p.V130M	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	130	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCAGGCTTCACCTGGATCGGC	0.647000											OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	108	131					0	0	0.000781405	0	0
MUC2	4583	broad.mit.edu	37	11	1087447	1087447	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:1087447G>A	ENST00000441003.2	+	24	3225	c.3198G>A	c.(3196-3198)gtG>gtA	p.V1066V	MUC2_ENST00000359061.5_Silent_p.V1066V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1066						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCCCCAGGTGGACCCCAAGC	0.672000													97	256					0	0	0.000781405	0	0
CYFIP2	26999	broad.mit.edu	37	5	156723780	156723780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:156723780C>T	ENST00000347377.6	+	5	816	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.Q103*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.Q129*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.Q54*|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.Q129*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	129					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGTATTTTCAGGTGAGTGG	0.498000													141	91					0	0	0.000781405	0	0
CDH16	1014	broad.mit.edu	37	16	66948284	66948284	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:66948284C>T	ENST00000299752.4	-	7	808	c.615G>A	c.(613-615)agG>agA	p.R205R	CDH16_ENST00000394055.3_Silent_p.R205R|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000570262.1_Silent_p.R125R|CDH16_ENST00000565796.1_Silent_p.R205R	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	205	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTGGTAGGTCCTCTCCAGGG	0.617000													128	251					0	0	0.000781405	0	0
FAM47A	158724	broad.mit.edu	37	X	34149162	34149162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:34149162G>A	ENST00000346193.3	-	1	1285	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	412								p.R412C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTTCCAGGCGGAGATGGCAC	0.557000													103	34					0	0	0.000781405	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857458	9857458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:9857458C>T	ENST00000396573.2	-	14	4252	c.3943G>A	c.(3943-3945)Gac>Aac	p.D1315N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1315N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1315N|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1315					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTTCCCTGTCCTTGAGGCTT	0.512000													20	51					0	0	0.000375601	0	0
CROCC	9696	broad.mit.edu	37	1	17277559	17277559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:17277559C>T	ENST00000375541.5	+	20	3017	c.2948C>T	c.(2947-2949)tCt>tTt	p.S983F	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	983					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCCAGGCCTCTCTGCGGGAG	0.622000													113	198					0	0	0.000781405	0	0
TRPV5	56302	broad.mit.edu	37	7	142622658	142622658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142622658C>T	ENST00000265310.1	-	8	1436	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	TRPV5_ENST00000442623.1_Missense_Mutation_p.R363Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	363					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGTGATGTCTCGAGAATGAGT	0.522000													44	92					0	0	0.000781405	0	0
USP35	57558	broad.mit.edu	37	11	77910659	77910659	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:77910659C>T	ENST00000529308.1	+	4	1086	c.825C>T	c.(823-825)tcC>tcT	p.S275S	USP35_ENST00000441408.2_Intron|USP35_ENST00000526425.1_Silent_p.S6S|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	275					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACTGGGTGTCCTGGCCCCTGG	0.547000													561	556					0	0	0.000781405	0	0
SRCAP	10847	broad.mit.edu	37	16	30732539	30732539	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30732539G>T	ENST00000262518.4	+	21	3668	c.3283G>T	c.(3283-3285)Ggg>Tgg	p.G1095W	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1095W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1095	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGTCCTGAGTGGGACCTCACG	0.602000													10	847					0.000673444	0.00928291	0.000673444	1	0
PRRG3	79057	broad.mit.edu	37	X	150869278	150869278	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:150869278G>T	ENST00000370353.3	+	4	859	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L	PRRG3_ENST00000538575.1_Missense_Mutation_p.V157L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	157						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCCCAGGTGGTGCTGGG	0.682000													109	57					9.07701e-75	1.31415e-73	0.000781405	1	0
SP140L	93349	broad.mit.edu	37	2	231253283	231253283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:231253283G>A	ENST00000243810.6	+	10	794	c.794G>A	c.(793-795)aGa>aAa	p.R265K	SP140L_ENST00000444636.1_Missense_Mutation_p.R265K|SP140L_ENST00000396563.4_Missense_Mutation_p.R265K|SP140L_ENST00000415673.2_Missense_Mutation_p.R265K			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	265						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGGAGAAAGAGAGGCAAACCT	0.363000													3	9					0	0	0.00024832	0	0
LRTM1	57408	broad.mit.edu	37	3	54958919	54958919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:54958919G>A	ENST00000273286.5	-	2	493	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L35F	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	111						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCCAGGGAAAGGAGTGAATTC	0.473000													40	77					0	0	0.000374591	0	0
MYOM1	8736	broad.mit.edu	37	18	3116369	3116369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:3116369C>T	ENST00000400569.3	-	21	3596	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	MYOM1_ENST00000356443.4_Missense_Mutation_p.R1088Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.R992Q			P52179	MYOM1_HUMAN	myomesin 1	1088	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGCCCTCGCCACTGGTC	0.522000													24	36					0	0	0.000878237	0	0
PRKG1	5592	broad.mit.edu	37	10	54040672	54040672	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:54040672C>T	ENST00000373980.4	+	13	1944	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	PRKG1_ENST00000401604.2_Silent_p.H494H|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Silent_p.H482H|PRKG1_ENST00000373975.2_Silent_p.H212H|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	494	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCCTAGATCACCGAGGTTATG	0.388000													6	24					0	0	3.59834e-05	0	0
LAS1L	81887	broad.mit.edu	37	X	64744894	64744894	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:64744894G>A	ENST00000374811.3	-	8	1033	c.993C>T	c.(991-993)ttC>ttT	p.F331F	LAS1L_ENST00000374804.5_Silent_p.F289F|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Silent_p.F331F	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	331						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TGGGGACAAGGAAGCCATCAT	0.512000													48	11					0	0	0.000781405	0	0
ARRB2	409	broad.mit.edu	37	17	4621957	4621957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:4621957C>T	ENST00000269260.2	+	10	990	c.757C>T	c.(757-759)Cct>Tct	p.P253S	ARRB2_ENST00000572457.1_Missense_Mutation_p.P61S|ARRB2_ENST00000574954.1_Missense_Mutation_p.P61S|ARRB2_ENST00000412477.3_Missense_Mutation_p.P274S|ARRB2_ENST00000381488.6_Missense_Mutation_p.P238S|ARRB2_ENST00000346341.2_Missense_Mutation_p.P238S|ARRB2_ENST00000575877.1_Missense_Mutation_p.P253S|ARRB2_ENST00000571206.1_Missense_Mutation_p.P61S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	253	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GTACAAGTGTCCTGTGGCTCA	0.557000													459	194					0	0	0.000781405	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171856	146171856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:146171856C>T	ENST00000497985.1	-	7	1074	c.635G>A	c.(634-636)aGa>aAa	p.R212K	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R139K	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	139					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TACATCCTCTCTTTTCTGATT	0.383000													38	45					0	0	0.000228196	0	0
ZNF615	284370	broad.mit.edu	37	19	52505120	52505120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52505120G>A	ENST00000602063.1	-	5	533	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R62*|ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R62*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R67*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R62*|ZNF615_ENST00000597747.1_Nonsense_Mutation_p.R62*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTTCTCCTCGTTCCAATTTG	0.458000													46	168					0	0	0.000781405	0	0
TMEM100	55273	broad.mit.edu	37	17	53798339	53798339	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:53798339G>A	ENST00000575734.1	-	4	901	c.93C>T	c.(91-93)atC>atT	p.I31I	TMEM100_ENST00000424486.2_Silent_p.I31I	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	31						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GGACTGTGGTGATCACAACTT	0.537000													26	66					0	0	0.000147802	0	0
AARD	441376	broad.mit.edu	37	8	117950537	117950537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:117950537G>A	ENST00000378279.3	+	1	100	c.55G>A	c.(55-57)Gga>Aga	p.G19R		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	19																	GGGGCTCCAGGGACTCCCAGG	0.662000													122	211					0	0	0.000781405	0	0
PRDM15	63977	broad.mit.edu	37	21	43256640	43256640	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:43256640A>C	ENST00000422911.1	-	9	1332	c.1231T>G	c.(1231-1233)Tgc>Ggc	p.C411G	PRDM15_ENST00000269844.3_Missense_Mutation_p.C740G|PRDM15_ENST00000398548.1_Missense_Mutation_p.C411G|PRDM15_ENST00000538201.1_Missense_Mutation_p.C374G|PRDM15_ENST00000447207.2_Missense_Mutation_p.C374G			P57071	PRD15_HUMAN	PR domain containing 15	740	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CAGATATTGCACTGGTAAACC	0.597000													394	233					0	0	0.000781405	0	0
GPR87	53836	broad.mit.edu	37	3	151012994	151012994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:151012994C>T	ENST00000260843.4	-	3	504	c.40G>A	c.(40-42)Gag>Aag	p.E14K	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	14						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGTGCAGCTCGTTATCTGTA	0.498000													26	49					0	0	0.000147802	0	0
ZNF562	54811	broad.mit.edu	37	19	9768812	9768812	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9768812C>T	ENST00000448622.1	-	4	277		c.e4-1		ZNF562_ENST00000587392.1_Splice_Site|ZNF562_ENST00000453792.2_Splice_Site|ZNF562_ENST00000453372.2_Splice_Site|ZNF562_ENST00000293648.4_Intron|ZNF562_ENST00000541032.1_Splice_Site|ZNF562_ENST00000537617.1_Intron|ZNF562_ENST00000590155.1_Splice_Site	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TCACTGAATCCTAAGTCATCA	0.453000													35	27					0	0	0.000953801	0	0
LILRA4	23547	broad.mit.edu	37	19	54844919	54844919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54844919G>A	ENST00000291759.4	-	8	1480	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	475						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCTGCACCTTGGGGGGCTTCT	0.547000													176	278					0	0	0.000781405	0	0
SAMD7	344658	broad.mit.edu	37	3	169639003	169639003	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:169639003G>A	ENST00000428432.2	+	4	477	c.86_splice	c.e4-1	p.D30_splice	SAMD7_ENST00000335556.3_Splice_Site_p.D30_splice	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	30										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGTTCTCAGAGATGTATTGCC	0.383000													82	132					0	0	0.000781405	0	0
OASL	8638	broad.mit.edu	37	12	121471316	121471316	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:121471316C>T	ENST00000257570.5	-	2	699	c.429G>A	c.(427-429)agG>agA	p.R143R	OASL_ENST00000339275.5_Silent_p.R143R	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	143					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGCAGTCCCCCTGGTCTGGA	0.627000													216	727					0	0	0.000781405	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													17	368					0	0	0.000184323	0	0
SCML2	10389	broad.mit.edu	37	X	18260653	18260653	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:18260653T>G	ENST00000251900.4	-	14	2039	c.1880A>C	c.(1879-1881)gAc>gCc	p.D627A	SCML2_ENST00000398048.3_Intron	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	627					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGTTGAAGGGTCCTTAGAGAA	0.458000													116	15					0	0	0.000781405	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284006	43284006	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:43284006C>T	ENST00000511537.1	-	0	929					NR_033868.1																						TCCCAAGTTTCATCAGCACTG	0.473000													6	11					0	0	0.000157383	0	0
CFP	5199	broad.mit.edu	37	X	47487623	47487623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:47487623G>A	ENST00000247153.3	-	4	522	c.281C>T	c.(280-282)tCt>tTt	p.S94F	CFP_ENST00000480317.1_5'UTR|CFP_ENST00000377005.2_Missense_Mutation_p.S94F|CFP_ENST00000396992.3_Missense_Mutation_p.S94F	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	94	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGAGCCCTCAGAGCACGTCAC	0.632000													129	23					0	0	0.000781405	0	0
PTPRB	5787	broad.mit.edu	37	12	70954554	70954554	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:70954554C>T	ENST00000334414.6	-	17	4373	c.4329G>A	c.(4327-4329)acG>acA	p.T1443T	PTPRB_ENST00000551525.1_Silent_p.T1442T|PTPRB_ENST00000550358.1_Silent_p.T1355T|PTPRB_ENST00000538708.1_Silent_p.T1135T|PTPRB_ENST00000550857.1_Silent_p.T1135T|PTPRB_ENST00000261266.5_Silent_p.T1225T|PTPRB_ENST00000451516.2_Silent_p.T1135T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1225	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCGCCACTCCGTCAGGTCCT	0.488000													12	24					0	0	6.40141e-05	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278205	7278205	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:7278205G>A	ENST00000436587.2	+	3	763	c.540G>A	c.(538-540)agG>agA	p.R180R	C1GALT1_ENST00000223122.2_Silent_p.R180R|C1GALT1_ENST00000402468.3_Silent_p.R180R	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	180					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ACAATTTGAGGTGGCTTCTTT	0.378000													59	79					0	0	0.000781405	0	0
CALN1	83698	broad.mit.edu	37	7	71488686	71488686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:71488686G>A	ENST00000395275.2	-	5	845	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	CALN1_ENST00000412588.1_Missense_Mutation_p.R153C|CALN1_ENST00000431984.1_Missense_Mutation_p.R111C|CALN1_ENST00000405452.2_Missense_Mutation_p.R111C|CALN1_ENST00000395276.2_Missense_Mutation_p.R111C|CALN1_ENST00000329008.5_Missense_Mutation_p.R111C	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	111						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AAACCATCGCGACCTTCTGAA	0.418000													141	221					0	0	0.000781405	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802647	185802647	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:185802647T>C	ENST00000302277.6	+	4	3118	c.2524T>C	c.(2524-2526)Tta>Cta	p.L842L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	842						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAATTCTTCCTTAAATCCTCT	0.353000													44	59					0	0	0.000680045	0	0
C10orf129	142827	broad.mit.edu	37	10	96971703	96971703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:96971703C>T	ENST00000341686.3	+	6	949	c.824C>T	c.(823-825)tCc>tTc	p.S275F	C10orf129_ENST00000394005.3_Missense_Mutation_p.S275F|C10orf129_ENST00000430183.1_Missense_Mutation_p.S120F	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	275					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGATCTTTATCCCTGAGCGCT	0.468000													17	33					0	0	0.000958276	0	0
RYR2	6262	broad.mit.edu	37	1	237947744	237947744	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:237947744C>T	ENST00000366574.2	+	90	13049	c.12732C>T	c.(12730-12732)gcC>gcT	p.A4244A	RYR2_ENST00000360064.6_Silent_p.A4250A|RYR2_ENST00000542537.1_Silent_p.A4228A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4244					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGGTCGGCCCTGTTTGCGC	0.502000													14	15					0	0	0.000219431	0	0
ARID1B	57492	broad.mit.edu	37	6	157521970	157521970	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:157521970G>A	ENST00000346085.5	+	18	4243	c.4242G>A	c.(4240-4242)ccG>ccA	p.P1414P	ARID1B_ENST00000275248.4_Silent_p.P1396P|ARID1B_ENST00000367148.1_Silent_p.P1454P|ARID1B_ENST00000350026.5_Silent_p.P1401P	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1401					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTCGGGCCCGGACCGCAGGC	0.637000													109	75					0	0	0.000781405	0	0
DROSHA	29102	broad.mit.edu	37	5	31526643	31526643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:31526643G>A	ENST00000511367.2	-	4	641	c.397C>T	c.(397-399)Cct>Tct	p.P133S	DROSHA_ENST00000344624.3_Missense_Mutation_p.P133S|DROSHA_ENST00000442743.1_Missense_Mutation_p.P133S|DROSHA_ENST00000513349.1_Missense_Mutation_p.P133S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	133	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGTGCCCCAGGGACTGGGGGG	0.602000													16	101					0	0	0.000422831	0	0
QDPR	5860	broad.mit.edu	37	4	17503480	17503480	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:17503480G>T	ENST00000281243.5	-	4	477	c.298C>A	c.(298-300)Ctc>Atc	p.L100I	QDPR_ENST00000508623.1_Missense_Mutation_p.L100I|QDPR_ENST00000513615.1_Missense_Mutation_p.L100I|QDPR_ENST00000428702.2_Missense_Mutation_p.L69I	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	100					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TTCTTAAAGAGAGCTGAGTGA	0.522000													200	153					4.13848e-90	6.00228e-89	0.000781405	1	0
DPYD	1806	broad.mit.edu	37	1	97981408	97981408	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:97981408G>A	ENST00000370192.3	-	13	1714	c.1614C>T	c.(1612-1614)gcC>gcT	p.A538A		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	538					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACTTCAATCCGGCCATTTCTA	0.453000													9	17					0	0	0.000274275	0	0
PON1	5444	broad.mit.edu	37	7	94928408	94928408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:94928408G>A	ENST00000222381.3	-	9	1147	c.916C>T	c.(916-918)Cga>Tga	p.R306*	PON1_ENST00000542556.1_Nonsense_Mutation_p.R306*	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	306					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TTCTGGATTCGAAGCACCTGT	0.383000													52	51					0	0	0.000781405	0	0
DNAJB9	4189	broad.mit.edu	37	7	108213754	108213754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:108213754G>A	ENST00000249356.3	+	3	1175	c.629G>A	c.(628-630)aGa>aAa	p.R210K	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	210					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						ACTCAACGAAGAGGAAATATG	0.378000													180	335					0	0	0.000781405	0	0
PAPOLA	10914	broad.mit.edu	37	14	96998708	96998708	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:96998708C>G	ENST00000216277.8	+	8	868	c.648C>G	c.(646-648)aaC>aaG	p.N216K	PAPOLA_ENST00000557320.1_Missense_Mutation_p.N216K|PAPOLA_ENST00000392990.2_Missense_Mutation_p.N216K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	216				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TAGTACCAAACATTGACAACT	0.348000													3	31					0	0	6.4e-05	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtctgcagcagctggacacac	0.652000													5	433					0	0	0.000409698	0	0
KMT2B	9757	broad.mit.edu	37	19	36213929	36213929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:36213929C>T	ENST00000420124.1	+	6	2755	c.2755C>T	c.(2755-2757)Ccg>Tcg	p.P919S	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.P919S																							TGAGAGTGTCCCGTCACGGTC	0.647000													93	140					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9077717	9077717	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9077717T>C	ENST00000397910.4	-	3	9932	c.9729A>G	c.(9727-9729)gaA>gaG	p.E3243E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3244	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						GGGTGACTGGTTCCACTGTGG	0.527000													63	93					0	0	0.000781405	0	0
KSR2	283455	broad.mit.edu	37	12	117977675	117977675	+	Silent	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:117977675A>T	ENST00000425217.1	-	10	1503	c.1449T>A	c.(1447-1449)ccT>ccA	p.P483P	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.P209P|KSR2_ENST00000339824.5_Silent_p.P512P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	512					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGCTGGTAAGGGACAGGGA	0.637000													32	140					0	0	0.000319135	0	0
HTR3E	285242	broad.mit.edu	37	3	183823977	183823977	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:183823977C>T	ENST00000415389.2	+	8	1453	c.987C>T	c.(985-987)atC>atT	p.I329I	HTR3E_ENST00000436361.2_Silent_p.I329I|HTR3E_ENST00000440596.2_Silent_p.I355I|HTR3E_ENST00000425359.2_Silent_p.I314I|HTR3E_ENST00000335304.2_Silent_p.I344I	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	329						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCATCTTCATCACCCACCTGC	0.667000													138	283					0	0	0.000781405	0	0
MEGF6	1953	broad.mit.edu	37	1	3431121	3431121	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:3431121G>A	ENST00000356575.4	-	7	1072	c.846C>T	c.(844-846)gcC>gcT	p.A282A	MEGF6_ENST00000294599.4_Silent_p.A177A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	282	EGF-like 4.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TACCTTCACAGGCCTTGCCGT	0.687000													43	72					0	0	0.000781405	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891764	2891764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:2891764C>T	ENST00000254528.3	+	4	1798	c.1639C>T	c.(1639-1641)Caa>Taa	p.Q547*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	547					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGACAAAGTTCAAGTTGTTGA	0.552000													172	312					0	0	0.000781405	0	0
KCNC2	3747	broad.mit.edu	37	12	75444548	75444548	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:75444548G>T	ENST00000549446.1	-	3	1917	c.1237C>A	c.(1237-1239)Cct>Act	p.P413T	KCNC2_ENST00000550433.1_Missense_Mutation_p.P413T|KCNC2_ENST00000298972.1_Missense_Mutation_p.P413T|KCNC2_ENST00000341669.3_Missense_Mutation_p.P413T|KCNC2_ENST00000350228.2_Missense_Mutation_p.P413T|KCNC2_ENST00000540018.1_Missense_Mutation_p.P413T|KCNC2_ENST00000548513.1_Missense_Mutation_p.P413T|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.P413T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	413					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CTAGCTGAAGGGTCGTTAGGT	0.458000													9	7					7.48243e-07	1.06666e-05	0.000442599	1	0
MBNL1	4154	broad.mit.edu	37	3	152163105	152163105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:152163105G>A	ENST00000282486.6	+	5	2426	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	MBNL1_ENST00000463374.1_Missense_Mutation_p.R195Q|MBNL1_ENST00000498502.1_Missense_Mutation_p.R195Q|MBNL1_ENST00000485910.1_Missense_Mutation_p.R127Q|MBNL1_ENST00000357472.3_Missense_Mutation_p.R195Q|MBNL1_ENST00000324196.5_Missense_Mutation_p.R195Q|MBNL1_ENST00000492948.1_Missense_Mutation_p.R195Q|MBNL1_ENST00000493459.1_Missense_Mutation_p.R138Q|MBNL1_ENST00000324210.5_Missense_Mutation_p.R195Q|MBNL1_ENST00000282488.7_Missense_Mutation_p.R127Q|MBNL1_ENST00000545754.1_Missense_Mutation_p.R127Q|MBNL1_ENST00000485509.1_Missense_Mutation_p.R195Q|MBNL1_ENST00000355460.2_Missense_Mutation_p.R195Q			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	195					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATTGCAACCGAGGAGAAAAT	0.413000													34	61					0	0	0.000409698	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616142	173616142	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:173616142G>A	ENST00000333279.2	-	3	399	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	129										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CACAATGTAAGAGTGTGTACC	0.408000													44	22					0	0	0.000781405	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175364	207175364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:207175364G>A	ENST00000374423.3	+	5	6498	c.6112G>A	c.(6112-6114)Gat>Aat	p.D2038N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2038							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTGGGATAATGATATTCGGTT	0.358000													11	12					0	0	0.000673444	0	0
ATG2A	23130	broad.mit.edu	37	11	64669436	64669436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64669436G>A	ENST00000421419.2	-	29	4237	c.4123C>T	c.(4123-4125)Ccg>Tcg	p.P1375S	ATG2A_ENST00000377264.3_Missense_Mutation_p.P1373S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1373							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACGCACCGGGATGCCCAGG	0.607000													205	294					0	0	0.000781405	0	0
TRIM27	5987	broad.mit.edu	37	6	28887961	28887961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:28887961G>A	ENST00000377199.3	-	3	931	c.575C>T	c.(574-576)tCc>tTc	p.S192F	TRIM27_ENST00000377194.3_Missense_Mutation_p.S192F|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	192					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTCCTTTAAGGAGTGATACAG	0.502000			T	RET	papillary thyroid								455	731					0	0	0.000781405	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529668	6529668	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:6529668C>T	ENST00000377748.1	-	18	2597	c.2100G>A	c.(2098-2100)agG>agA	p.R700R	PLEKHG5_ENST00000544978.1_Silent_p.R623R|PLEKHG5_ENST00000537245.1_Silent_p.R702R|PLEKHG5_ENST00000340850.5_Silent_p.R623R|PLEKHG5_ENST00000377725.1_Silent_p.R623R|PLEKHG5_ENST00000377732.1_Silent_p.R660R|PLEKHG5_ENST00000400913.1_Silent_p.R623R|PLEKHG5_ENST00000377740.3_Silent_p.R700R|PLEKHG5_ENST00000535355.1_Silent_p.R692R|PLEKHG5_ENST00000377737.2_Silent_p.R623R|PLEKHG5_ENST00000377728.3_Silent_p.R623R|PLEKHG5_ENST00000400915.3_Silent_p.R679R	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	679	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGACCCTGGTCCTCTCTGCCT	0.612000													312	510					0	0	0.000781405	0	0
C1orf65	164127	broad.mit.edu	37	1	223567632	223567632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:223567632G>A	ENST00000366875.3	+	1	918	c.815G>A	c.(814-816)aGg>aAg	p.R272K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	272										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAGGCCCAGAGGATACGGGAG	0.642000													201	153					0	0	0.000781405	0	0
PRLR	5618	broad.mit.edu	37	5	35065776	35065776	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:35065776G>A	ENST00000382002.5	-	10	1710	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.S327S|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Silent_p.S327S|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	428					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTGGTAAGAGGATCTGGGGT	0.493000													58	97					0	0	0.000781405	0	0
C10orf76	79591	broad.mit.edu	37	10	103755071	103755071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:103755071G>A	ENST00000370033.4	-	16	1311	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	398						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATACATGTAAGGATAATCAGA	0.418000													68	87					0	0	0.000781405	0	0
MYCT1	80177	broad.mit.edu	37	6	153019227	153019227	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:153019227T>A	ENST00000367245.5	+	1	198	c.190T>A	c.(190-192)Ttt>Att	p.F64I	MYCT1_ENST00000529453.1_Missense_Mutation_p.F64I	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	64						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GCCAGAAAACTTTTGGGGTAA	0.313000													18	22					0	0	0.00074312	0	0
BZW2	28969	broad.mit.edu	37	7	16725628	16725628	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:16725628C>T	ENST00000433922.2	+	6	682	c.504C>T	c.(502-504)atC>atT	p.I168I	BZW2_ENST00000405202.1_Silent_p.I92I|BZW2_ENST00000452975.2_Intron|BZW2_ENST00000258761.3_Silent_p.I168I	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	168					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCGCCACCATCCTCACCAGTC	0.493000													9	12					0	0	0.000673444	0	0
AREL1	9870	broad.mit.edu	37	14	75151289	75151289	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:75151289G>A	ENST00000356357.4	-	4	626	c.111C>T	c.(109-111)gaC>gaT	p.D37D	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GGCGCTCGCGGTCCTCATTCT	0.527000													35	44					0	0	0.000692331	0	0
TMEM234	56063	broad.mit.edu	37	1	32682473	32682473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:32682473C>T	ENST00000309777.6	-	5	406	c.404G>A	c.(403-405)gGg>gAg	p.G135E	TMEM234_ENST00000545122.1_Intron|TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000344461.3_Intron	NM_019118.3	NP_061991.3	Q8WY98	TM234_HUMAN	transmembrane protein 234	142						integral to membrane				kidney(2)|lung(3)	5						AGACTGTTGCCCCTGGGTCTT	0.557000													159	242					0	0	0.000781405	0	0
SPATA2L	124044	broad.mit.edu	37	16	89763814	89763814	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:89763814G>A	ENST00000289805.5	-	3	1271	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	401										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCGCCGCTGGGCGTCGCCAA	0.697000													102	158					0	0	0.000781405	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935899	82935899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:82935899C>T	ENST00000260047.6	+	6	1381	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	ANKRD42_ENST00000531895.1_Missense_Mutation_p.H197Y|ANKRD42_ENST00000533342.1_Missense_Mutation_p.H197Y|ANKRD42_ENST00000393392.2_Missense_Mutation_p.H169Y			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	169										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCCTCTAGTTCACTTAGCAGC	0.328000													85	65					0	0	0.000781405	0	0
ERN1	2081	broad.mit.edu	37	17	62131659	62131659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:62131659C>T	ENST00000433197.2	-	15	1999	c.1904G>A	c.(1903-1905)cGg>cAg	p.R635Q		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	635	Protein kinase.		R -> W (in a gastric adenocarcinoma sample; somatic mutation).		activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTGGAATTGCCGGTCCTTCTC	0.483000													50	96					0	0	0.000781405	0	0
TFEC	22797	broad.mit.edu	37	7	115580925	115580925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:115580925C>T	ENST00000265440.7	-	8	904	c.724G>A	c.(724-726)Gat>Aat	p.D242N	TFEC_ENST00000320239.7_Missense_Mutation_p.D213N|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.D175N	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GCACCTAAATCAACCGTGCCA	0.453000													68	104					0	0	0.000781405	0	0
XKR5	389610	broad.mit.edu	37	8	6690347	6690347	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:6690347G>A	ENST00000518724.1	-	0	284							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CAAGAACCCGGGCAGGAGGAC	0.602000													175	299					0	0	0.000781405	0	0
TMEM198	130612	broad.mit.edu	37	2	220412289	220412289	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220412289C>T	ENST00000344458.2	+	4	813	c.228C>T	c.(226-228)atC>atT	p.I76I	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Silent_p.I76I			Q66K66	TM198_HUMAN	transmembrane protein 198	76	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGTGGTCATCTTCCTCCTCT	0.632000											OREG0003985	type=REGULATORY REGION|Gene=AK123175|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	748	1735					0	0	0.000781405	0	0
MFSD7	84179	broad.mit.edu	37	4	676052	676052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:676052G>A	ENST00000322224.4	-	10	1688	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	MFSD7_ENST00000347950.5_Missense_Mutation_p.R341C|MFSD7_ENST00000404286.2_Missense_Mutation_p.R460C|MFSD7_ENST00000515118.1_Missense_Mutation_p.R363C|MFSD7_ENST00000503156.1_Silent_p.P381P			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	460					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						ACGGCGTTACGGGTGGAGGGG	0.711000													22	100					0	0	0.000270559	0	0
PRKG2	5593	broad.mit.edu	37	4	82126170	82126170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:82126170G>A	ENST00000395578.1	-	2	148	c.32C>T	c.(31-33)tCt>tTt	p.S11F	PRKG2_ENST00000418486.2_Missense_Mutation_p.S11F|PRKG2_ENST00000264399.1_Missense_Mutation_p.S11F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	11					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGGGTGCTTAGAATGTTTAGG	0.498000													63	51					0	0	0.000781405	0	0
HADHB	3032	broad.mit.edu	37	2	26477303	26477303	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:26477303A>T	ENST00000317799.5	+	3	174	c.70A>T	c.(70-72)Aga>Tga	p.R24*	HADHB_ENST00000537713.1_Nonsense_Mutation_p.R24*|HADHB_ENST00000405867.3_Nonsense_Mutation_p.R24*|HADHB_ENST00000545822.1_5'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	24					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGCCATAAGACCTCTGAG	0.333000													69	174					0	0	0.000781405	0	0
BPIFC	254240	broad.mit.edu	37	22	32843213	32843213	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:32843213G>A	ENST00000397452.1	-	4	470	c.360C>T	c.(358-360)ttC>ttT	p.F120F	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Silent_p.F120F			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	120						extracellular region	lipopolysaccharide binding|phospholipid binding										GTGGAGACTCGAACCCCCAGT	0.453000													54	123					0	0	0.000781405	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675112	40675112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:40675112C>T	ENST00000416151.2	+	1	191	c.76C>T	c.(76-78)Cca>Tca	p.P26S	KNSTRN_ENST00000249776.8_Missense_Mutation_p.P26S|KNSTRN_ENST00000448395.2_Missense_Mutation_p.P26S	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CGATTCCCACCCACTTCCGCC	0.567000													284	402					0	0	0.000781405	0	0
KDM5B	10765	broad.mit.edu	37	1	202701055	202701055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:202701055G>A	ENST00000367265.3	-	24	5086	c.3922C>T	c.(3922-3924)Cct>Tct	p.P1308S	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1344S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1308					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTTGTGCCAGGAGGTTGAGAT	0.428000													91	205					0	0	0.000781405	0	0
LIG1	3978	broad.mit.edu	37	19	48643362	48643362	+	Missense_Mutation	SNP	G	G	A	rs111507847		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:48643362G>A	ENST00000263274.7	-	12	1372	c.953C>T	c.(952-954)tCc>tTc	p.S318F	LIG1_ENST00000427526.2_Missense_Mutation_p.S287F|LIG1_ENST00000536218.1_Missense_Mutation_p.S250F	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	318					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGCCACCACGGAGCGCAGCAA	0.642000								Nucleotide excision repair (NER)					170	309					0	0	0.000781405	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474529	84474529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:84474529G>A	ENST00000416219.2	+	14	1365	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	ATP2C2_ENST00000262429.4_Missense_Mutation_p.E426K|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	426					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTCATTAAGGAATTTTCCAA	0.502000													84	188					0	0	0.000781405	0	0
EXO5	64789	broad.mit.edu	37	1	40980611	40980611	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:40980611T>G	ENST00000372703.1	+	2	1469	c.395T>G	c.(394-396)gTg>gGg	p.V132G	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.V132G|EXO5_ENST00000358527.2_Missense_Mutation_p.V132G					exonuclease 5																		CATGATCTTGTGACTGTCCCA	0.483000													160	300					0	0	0.000781405	0	0
HADHB	3032	broad.mit.edu	37	2	26477304	26477304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:26477304G>A	ENST00000317799.5	+	3	175	c.71G>A	c.(70-72)aGa>aAa	p.R24K	HADHB_ENST00000537713.1_Missense_Mutation_p.R24K|HADHB_ENST00000405867.3_Missense_Mutation_p.R24K|HADHB_ENST00000545822.1_5'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	24					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCCATAAGACCTCTGAGC	0.333000													68	173					0	0	0.000781405	0	0
CSMD3	114788	broad.mit.edu	37	8	113237040	113237040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:113237040C>T	ENST00000297405.5	-	71	11328	c.11084G>A	c.(11083-11085)cGa>cAa	p.R3695Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3655Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3526Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3625Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3695						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGATCAAATCGTACCGCCTT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			59	135					0	0	0.000781405	0	0
NLRP10	338322	broad.mit.edu	37	11	7981382	7981382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:7981382C>T	ENST00000328600.2	-	2	1938	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	593							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATTTCTTTTCATTTGAATGT	0.368000													52	91					0	0	0.000781405	0	0
HDAC3	8841	broad.mit.edu	37	5	141008152	141008152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:141008152G>A	ENST00000305264.3	-	8	744	c.665C>T	c.(664-666)cCc>cTc	p.P222L		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	222	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	ATCCCGCAGGGGCACGTTCAG	0.537000													209	103					0	0	0.000781405	0	0
SLC5A8	160728	broad.mit.edu	37	12	101573822	101573822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:101573822C>T	ENST00000536262.2	-	10	1776	c.1218G>A	c.(1216-1218)atG>atA	p.M406I		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	406					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACAAAGCTCCCATAAGTGACG	0.453000													21	110					0	0	0.000586117	0	0
LCOR	84458	broad.mit.edu	37	10	98715083	98715083	+	Nonsense_Mutation	SNP	C	C	T	rs150929680		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:98715083C>T	ENST00000540664.1	+	8	1249	c.706C>T	c.(706-708)Caa>Taa	p.Q236*	LCOR_ENST00000356016.3_Nonsense_Mutation_p.Q236*|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Nonsense_Mutation_p.Q236*|LCOR_ENST00000371097.4_Nonsense_Mutation_p.Q236*	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AATGGCACTTCAAGCAAAACA	0.438000													52	123					0	0	0.000781405	0	0
FHDC1	85462	broad.mit.edu	37	4	153897706	153897706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:153897706G>A	ENST00000511601.1	+	12	3451	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1088Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1088					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACTTTGAGGCGAGCCAGCAGT	0.682000													261	76					0	0	0.000781405	0	0
CTSG	1511	broad.mit.edu	37	14	25043610	25043610	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:25043610G>A	ENST00000216336.2	-	4	471	c.435C>T	c.(433-435)gcC>gcT	p.A145A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	145	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGCCCCAGCCGGCCACAGTGC	0.612000													79	170					0	0	0.000781405	0	0
EPN1	29924	broad.mit.edu	37	19	56206590	56206590	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56206590C>A	ENST00000411543.2	+	11	2404	c.1857C>A	c.(1855-1857)ctC>ctA	p.L619L	EPN1_ENST00000085079.7_Silent_p.L507L|EPN1_ENST00000270460.6_Silent_p.L533L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	533					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TGAACCAGCTCCGTCTCAGTC	0.701000													135	171					2.66858e-58	3.85835e-57	0.000781405	1	0
AKR1A1	10327	broad.mit.edu	37	1	46034623	46034623	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:46034623C>T	ENST00000372070.3	+	8	1524	c.777C>T	c.(775-777)atC>atT	p.I259I	AKR1A1_ENST00000351829.4_Silent_p.I259I	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	259					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GGAAAGTGATCTGCATCCCCA	0.453000													181	280					0	0	0.000781405	0	0
AGFG1	3267	broad.mit.edu	37	2	228389553	228389553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:228389553G>A	ENST00000310078.7	+	5	876	c.616G>A	c.(616-618)Gac>Aac	p.D206N	AGFG1_ENST00000409315.1_Missense_Mutation_p.D206N|AGFG1_ENST00000409171.1_Missense_Mutation_p.D206N|AGFG1_ENST00000409979.2_Missense_Mutation_p.D206N|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000373671.3_Missense_Mutation_p.D206N	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	206					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTCGGCTCAGACATCTTTGC	0.438000													24	43					0	0	0.00047179	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956657	16956657	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16956657G>A	ENST00000412962.1	-	0	294																											GGGGATCACAGAGTCTAGCGG	0.637000													49	495					0	0	0.000781405	0	0
HOOK1	51361	broad.mit.edu	37	1	60299103	60299103	+	Silent	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:60299103A>C	ENST00000371208.3	+	5	557	c.300A>C	c.(298-300)gcA>gcC	p.A100A	HOOK1_ENST00000395561.2_Silent_p.A58A|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	100	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTTCAGAAGCACTTATCCCTG	0.363000													19	25					0	0	0.000132079	0	0
AARS	16	broad.mit.edu	37	16	70292955	70292955	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:70292955G>A	ENST00000261772.8	-	14	2063	c.1920C>T	c.(1918-1920)gcC>gcT	p.A640A	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	640					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TGGCTCCCTTGGCAGTAAAGT	0.542000													435	750					0	0	0.000781405	0	0
KCNH7	90134	broad.mit.edu	37	2	163393558	163393558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:163393558G>A	ENST00000332142.5	-	3	439	c.340C>T	c.(340-342)Cca>Tca	p.P114S	KCNH7_ENST00000328032.4_Missense_Mutation_p.P114S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	114	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTTTCACTGGAATTATGTGA	0.353000													27	35					0	0	0.000720815	0	0
MAPK3	5595	broad.mit.edu	37	16	30128045	30128045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30128045C>T	ENST00000484663.1	-	7	1875	c.742G>A	c.(742-744)Gag>Aag	p.E248K	MAPK3_ENST00000263025.4_Missense_Mutation_p.E362K|MAPK3_ENST00000395202.1_Missense_Mutation_p.E318K|MAPK3_ENST00000322266.5_Missense_Mutation_p.E318K|MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000395200.1_Missense_Mutation_p.E294K			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	362	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	p.E362*(1)								Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	AAGATGAGCTCCTTCAGCCGC	0.637000													391	501					0	0	0.000781405	0	0
OR4C15	81309	broad.mit.edu	37	11	55322738	55322738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55322738C>T	ENST00000314644.2	+	1	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTGCTTTTTCCCTTGACAAA	0.403000										HNSCC(20;0.049)			32	37					0	0	0.000491102	0	0
COL18A1	80781	broad.mit.edu	37	21	46912603	46912603	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46912603C>T	ENST00000359759.4	+	23	3456	c.3435C>T	c.(3433-3435)ggC>ggT	p.G1145G	COL18A1_ENST00000355480.5_Silent_p.G910G|COL18A1_ENST00000400337.2_Silent_p.G730G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1145	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TTCCCCAGGGCCGGCCGGGTT	0.701000													352	175					0	0	0.000781405	0	0
LMO7	4008	broad.mit.edu	37	13	76381890	76381890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:76381890G>A	ENST00000357063.3	+	11	2887	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	LMO7_ENST00000321797.8_Missense_Mutation_p.D258N|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.D543N|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.D258N			Q8WWI1	LMO7_HUMAN	LIM domain 7	543						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTCTGAGCAAGATGATTCTGT	0.388000													20	43					0	0	0.000586117	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622284	106622284	+	RNA	SNP	G	G	A	rs112834475	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:106622284G>A	ENST00000390604.2	-	0	120																											AATATCCTTAGTTCTCCATGA	0.433000													130	187					0	0	0.000781405	0	0
RIMBP2	23504	broad.mit.edu	37	12	130935833	130935833	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:130935833G>A	ENST00000261655.4	-	5	523	c.360C>T	c.(358-360)ccC>ccT	p.P120P	RIMBP2_ENST00000536002.1_Silent_p.P28P|RIMBP2_ENST00000535703.1_Silent_p.P28P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	120						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTGCGGAAGGGGCCGGATAT	0.547000													143	186					0	0	0.000781405	0	0
VPS13A	23230	broad.mit.edu	37	9	79932605	79932605	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:79932605G>A	ENST00000360280.3	+	40	5207	c.4947G>A	c.(4945-4947)ctG>ctA	p.L1649L	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.L1649L|VPS13A_ENST00000357409.5_Silent_p.L1649L|VPS13A_ENST00000376636.3_Silent_p.L1610L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1649					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAAAATCCCTGACACTAAAGG	0.303000													6	1					0	0	8.12818e-05	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451475	25451475	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:25451475G>A	ENST00000424208.1	+	0	2384				SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGCTCAATAGGATTATGCTGA	0.478000													551	953					0	0	0.000781405	0	0
COPA	1314	broad.mit.edu	37	1	160260464	160260464	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160260464G>A	ENST00000241704.7	-	32	3662	c.3433C>T	c.(3433-3435)Ctg>Ttg	p.L1145L	COPA_ENST00000368069.3_Silent_p.L1154L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1145					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGCAGACAGGATTTTTCGG	0.493000													151	492					0	0	0.000781405	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762826	92762826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:92762826G>A	ENST00000318238.4	-	5	3675	c.2459C>T	c.(2458-2460)tCc>tTc	p.S820F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S820F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S820F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTAAAACGGAATGGATGGC	0.378000													18	35					0	0	0.000566183	0	0
RP1	6101	broad.mit.edu	37	8	55538048	55538048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:55538048G>A	ENST00000220676.1	+	4	1754	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	536					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E536K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGAAAAAAGGAAAACAGTCT	0.338000													86	136					0	0	0.000781405	0	0
OR51D1	390038	broad.mit.edu	37	11	4661414	4661414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4661414G>A	ENST00000357605.2	+	1	470	c.394G>A	c.(394-396)Gct>Act	p.A132T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGGCCATGGCTTTTGACCG	0.562000													25	42					0	0	0.000375601	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901693	54901693	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:54901693C>T	ENST00000293373.6	+	4	442	c.363_splice	c.e4+1	p.I121_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.I71_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	121					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATTTTGATATCGTAAGAACCT	0.438000													23	110					0	0	0.000586117	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181055	81181055	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:81181055C>T	ENST00000525539.1	-	0	5035				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CACTGAGTCCCAGCCCAAGGC	0.552000													181	316					0	0	0.000781405	0	0
PDE1A	5136	broad.mit.edu	37	2	183129038	183129038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:183129038C>T	ENST00000435564.1	-	2	405	c.205G>A	c.(205-207)Gat>Aat	p.D69N	PDE1A_ENST00000358139.2_Missense_Mutation_p.D69N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D53N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D69N|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.D69N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D53N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D69N	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	69					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTTGTTTCATCGATATAAACT	0.388000													8	42					0	0	0.000157383	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629200	1629200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:1629200G>A	ENST00000399685.1	-	1	493	c.416C>T	c.(415-417)tCa>tTa	p.S139L		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	139	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCACAGCCTGAGGAGCAGCA	0.627000													254	892					0	0	0.000781405	0	0
USP11	8237	broad.mit.edu	37	X	47104264	47104264	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:47104264T>C	ENST00000377107.2	+	15	2381	c.2027T>C	c.(2026-2028)cTg>cCg	p.L676P	USP11_ENST00000218348.3_Missense_Mutation_p.L719P			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	719					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTGTTCACCCTGCAGACGGTG	0.602000													4	260					0	0	0.00024832	0	0
ADCY1	107	broad.mit.edu	37	7	45750222	45750222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:45750222G>A	ENST00000297323.7	+	19	3050	c.3028G>A	c.(3028-3030)Gat>Aat	p.D1010N		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1010					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAGTCGGATGGATAGCACAGG	0.582000													132	203					0	0	0.000781405	0	0
VWA3B	200403	broad.mit.edu	37	2	98920243	98920243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:98920243C>T	ENST00000477737.1	+	26	3703	c.3499C>T	c.(3499-3501)Cca>Tca	p.P1167S	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1167										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAGTCACCCCCAATTCCTGA	0.373000													37	80					0	0	0.000374591	0	0
ZNF16	7564	broad.mit.edu	37	8	146157959	146157959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:146157959C>T	ENST00000276816.4	-	4	400	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E72K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCTTGTCTTCAGTCCTGGTG	0.433000													60	130					0	0	0.000781405	0	0
FAM65B	9750	broad.mit.edu	37	6	24875982	24875982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:24875982G>A	ENST00000259698.4	-	2	213	c.38C>T	c.(37-39)cCc>cTc	p.P13L	FAM65B_ENST00000510784.2_Missense_Mutation_p.P47L|FAM65B_ENST00000540914.1_Missense_Mutation_p.P13L|FAM65B_ENST00000378023.4_Missense_Mutation_p.P13L|FAM65B_ENST00000538035.1_Missense_Mutation_p.P42L	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	13				P -> A (in Ref. 1; AAC51134).	cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GATCCCATTGGGCCCTCCAGG	0.527000													8	18					0	0	6.40141e-05	0	0
OR5F1	338674	broad.mit.edu	37	11	55762055	55762055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55762055C>T	ENST00000278409.1	-	1	46	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTCTGCTAATCCCAATAGGAC	0.348000													43	58					0	0	0.000781405	0	0
EPN1	29924	broad.mit.edu	37	19	56206591	56206591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56206591C>T	ENST00000411543.2	+	11	2405	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	EPN1_ENST00000085079.7_Missense_Mutation_p.R508C|EPN1_ENST00000270460.6_Missense_Mutation_p.R534C	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	534					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GAACCAGCTCCGTCTCAGTCC	0.701000													129	174					0	0	0.000781405	0	0
OR6V1	346517	broad.mit.edu	37	7	142749774	142749774	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142749774C>T	ENST00000418316.1	+	1	358	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTTCCTCATCCTGACAGACAT	0.577000													41	89					0	0	0.000270559	0	0
ABCG4	64137	broad.mit.edu	37	11	119027056	119027056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:119027056C>T	ENST00000307417.3	+	7	1068	c.704C>T	c.(703-705)tCt>tTt	p.S235F	ABCG4_ENST00000449422.2_Missense_Mutation_p.S235F|ABCG4_ENST00000531739.1_Missense_Mutation_p.S235F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	235	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GATAGCGCCTCTTGTTTCCAA	0.602000													262	794					0	0	0.000781405	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3763391	3763391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:3763391G>A	ENST00000440314.2	-	10	1506	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	EFCAB4B_ENST00000252322.1_Nonsense_Mutation_p.Q345*|EFCAB4B_ENST00000444507.1_Nonsense_Mutation_p.Q345*	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	345					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCCTTCTCTTGGTGGAGTTTG	0.607000													80	93					0	0	0.000781405	0	0
PRDM9	56979	broad.mit.edu	37	5	23527858	23527858	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:23527858C>T	ENST00000296682.3	+	11	2843	c.2661C>T	c.(2659-2661)ccC>ccT	p.P887P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	887					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCCCTACGTCTGCA	0.522000										HNSCC(3;0.000094)			16	9					0	0	0.000422831	0	0
OR5V1	81696	broad.mit.edu	37	6	29323164	29323164	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29323164T>A	ENST00000377154.1	-	4	1108	c.809A>T	c.(808-810)aAa>aTa	p.K270I	OR5V1_ENST00000543825.1_Missense_Mutation_p.K270I			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAACCTATCTTTCTTTAATGA	0.418000													57	122					0	0	0.000781405	0	0
AKNA	80709	broad.mit.edu	37	9	117108961	117108961	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:117108961G>T	ENST00000307564.4	-	17	3663	c.3502C>A	c.(3502-3504)Cga>Aga	p.R1168R	AKNA_ENST00000223791.3_Silent_p.R628R|AKNA_ENST00000374088.3_Silent_p.R1168R|AKNA_ENST00000374079.4_Silent_p.R113R|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Silent_p.R1087R	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGGACAGTCGGAGCACCTCC	0.562000													157	114					7.14909e-86	1.03595e-84	0.000781405	1	0
GDF2	2658	broad.mit.edu	37	10	48413663	48413663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:48413663G>A	ENST00000249598.1	-	2	1364	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	402					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTAGAGGACGGAGATGGGGCT	0.597000													55	95					0	0	0.000781405	0	0
XAGE3	170626	broad.mit.edu	37	X	52893806	52893806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:52893806C>T	ENST00000346279.3	-	4	381	c.311G>A	c.(310-312)gGa>gAa	p.G104E	XAGE3_ENST00000375491.3_Missense_Mutation_p.G104E	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	104										kidney(1)|large_intestine(1)|lung(2)	4						TAGCATACCTCCTTCTGGCAT	0.368000													101	38					0	0	0.000781405	0	0
CXorf36	79742	broad.mit.edu	37	X	45059964	45059964	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:45059964G>A	ENST00000398000.2	-	1	182	c.108C>T	c.(106-108)tcC>tcT	p.S36S	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.S36S|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	36						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GAGAAGAAAGGGAAGAAGCTG	0.572000													81	14					0	0	0.000781405	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095822	178095822	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:178095822C>T	ENST00000397062.3	-	5	2063	c.1509G>A	c.(1507-1509)agG>agA	p.R503R	NFE2L2_ENST00000464747.1_Silent_p.R487R|NFE2L2_ENST00000397063.4_Silent_p.R487R|NFE2L2_ENST00000446151.2_Silent_p.R480R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	503					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			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)			TCTTACCCCTCCTACGTATAT	0.353000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			63	137					0	0	0.000781405	0	0
SCN7A	6332	broad.mit.edu	37	2	167327137	167327137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:167327137G>A	ENST00000409855.1	-	6	778	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	218					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATTTAAAGGAATAATTTTT	0.323000													11	20					0	0	0.00010058	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874621	88874621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:88874621G>A	ENST00000303236.3	-	13	2681	c.2380C>T	c.(2380-2382)Cct>Tct	p.P794S	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P643S|EIF2AK3_ENST00000470706.1_Intron	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	794	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CTTACATAAGGAGAAGCTTCA	0.443000													170	240					0	0	0.000781405	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068486	57068486	+	Silent	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:57068486A>C	ENST00000532437.1	-	9	5312	c.5001T>G	c.(4999-5001)gcT>gcG	p.A1667A	TNKS1BP1_ENST00000358252.3_Silent_p.A1667A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1667	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCCTCCTCAGCTGAGCGAT	0.592000													105	120					0	0	0.000781405	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	148					0	0	0.000274275	0	0
DDX51	317781	broad.mit.edu	37	12	132624299	132624299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:132624299G>A	ENST00000397333.3	-	14	1893	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	619	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GTTAGCATTCGGAGGAATCTC	0.607000													241	270					0	0	0.000781405	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535569	110535569	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:110535569T>G	ENST00000378402.5	+	76	12542	c.12438T>G	c.(12436-12438)ttT>ttG	p.F4146L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4146					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATTCCGTTTAGCAGCTGTT	0.413000										HNSCC(38;0.096)			39	63					0	0	0.000319135	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444253	5444253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5444253C>T	ENST00000300778.4	+	1	913	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCACTGGTCCATGTTATCAT	0.473000													231	149					0	0	0.000781405	0	0
OSMR	9180	broad.mit.edu	37	5	38924674	38924674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:38924674G>A	ENST00000274276.3	+	14	2423	c.2021G>A	c.(2020-2022)cGa>cAa	p.R674Q		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	674	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGCCACCCACGATTTGAAAAG	0.358000													52	50					0	0	0.000781405	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394968.1_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000													13	31					0	0	0.00010058	0	0
SS18L1	26039	broad.mit.edu	37	20	60737912	60737912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:60737912G>A	ENST00000331758.3	+	5	507	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	SS18L1_ENST00000370848.4_Missense_Mutation_p.G164S|SS18L1_ENST00000421564.1_Missense_Mutation_p.G161S|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	161	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CGCCTCGCAGGGCGTCCCCAT	0.647000			T	SSX1	synovial sarcoma								100	201					0	0	0.000781405	0	0
CLPS	1208	broad.mit.edu	37	6	35763000	35763000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:35763000C>T	ENST00000259938.2	-	3	284	c.262G>A	c.(262-264)Gga>Aga	p.G88R		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	88					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GTCTTGTCTCCCTCACAGGTC	0.557000													183	509					0	0	0.000781405	0	0
PKP3	11187	broad.mit.edu	37	11	397181	397181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:397181G>A	ENST00000331563.2	+	3	756	c.680G>A	c.(679-681)gGg>gAg	p.G227E		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	227					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCGGGCAGGGGGGCTGGAC	0.711000													145	139					0	0	0.000781405	0	0
LCP1	3936	broad.mit.edu	37	13	46708262	46708262	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:46708262C>T	ENST00000398576.2	-	17	2014	c.1626_splice	c.e17+1	p.K542_splice	LCP1_ENST00000435666.2_Splice_Site_p.K111_splice|LCP1_ENST00000323076.2_Splice_Site_p.K542_splice			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	542	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGAATTTTACCTTGAAACTAG	0.393000			T	BCL6	NHL								28	20					0	0	0.000279167	0	0
HDAC7	51564	broad.mit.edu	37	12	48191260	48191260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:48191260C>T	ENST00000080059.7	-	6	483	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	HDAC7_ENST00000427332.2_Missense_Mutation_p.E123K|HDAC7_ENST00000354334.3_Missense_Mutation_p.E162K|HDAC7_ENST00000380610.4_Missense_Mutation_p.E179K|HDAC7_ENST00000552960.1_Missense_Mutation_p.E145K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	123	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GTGGCTCCTTCCGTCTCCAGG	0.642000													266	292					0	0	0.000781405	0	0
FDPS	2224	broad.mit.edu	37	1	155279920	155279920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:155279920C>T	ENST00000356657.6	+	3	425	c.263C>T	c.(262-264)tCc>tTc	p.S88F	RP11-21N7.2_ENST00000429648.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.S88F|FDPS_ENST00000447866.1_Missense_Mutation_p.S22F|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	88					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CAGCACTTCTCCCAGATCGTT	0.502000													213	554					0	0	0.000781405	0	0
FOLH1	2346	broad.mit.edu	37	11	49207377	49207377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:49207377C>T	ENST00000340334.7	-	7	993	c.625G>A	c.(625-627)Gga>Aga	p.G209R	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000256999.2_Missense_Mutation_p.G224R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G209R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G224R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	224					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGAATGACTCCTTTGGCCCCT	0.453000													28	103					0	0	0.000279167	0	0
CR2	1380	broad.mit.edu	37	1	207642195	207642195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:207642195C>T	ENST00000367057.3	+	4	874	c.685C>T	c.(685-687)Cct>Tct	p.P229S	CR2_ENST00000367059.3_Missense_Mutation_p.P229S|CR2_ENST00000458541.2_Missense_Mutation_p.P229S|CR2_ENST00000367058.3_Missense_Mutation_p.P229S|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	229	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTAAAGGAGCCTCCAATTCT	0.413000													94	73					0	0	0.000781405	0	0
OR2G2	81470	broad.mit.edu	37	1	247752384	247752384	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:247752384C>T	ENST00000320065.1	+	1	723	c.723C>T	c.(721-723)ttC>ttT	p.F241F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAAAGCATTCGGGACCTGCT	0.502000													33	23					0	0	0.000279167	0	0
KIF26A	26153	broad.mit.edu	37	14	104643503	104643503	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:104643503C>G	ENST00000315264.7	+	11	4339	c.3961C>G	c.(3961-3963)Cgg>Ggg	p.R1321G	KIF26A_ENST00000423312.2_Missense_Mutation_p.R1460G			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1460					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCGGCCTCCCCGGGCTGTACC	0.711000													4	268					0	0	0.000274275	0	0
MRVI1	10335	broad.mit.edu	37	11	10647749	10647749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:10647749C>T	ENST00000547195.1	-	8	1359	c.859G>A	c.(859-861)Gct>Act	p.A287T	MRVI1_ENST00000545852.1_Missense_Mutation_p.A63T|MRVI1_ENST00000423302.2_Missense_Mutation_p.A378T|MRVI1_ENST00000552103.1_Missense_Mutation_p.A287T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A370T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A287T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A369T|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.A63T|MRVI1_ENST00000436272.1_Missense_Mutation_p.A351T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A63T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A63T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	351					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAAGCTCAGCTTTGGAGCCA	0.692000													66	82					0	0	0.000781405	0	0
SV2A	9900	broad.mit.edu	37	1	149884980	149884980	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:149884980T>C	ENST00000369146.3	-	2	903	c.413A>G	c.(412-414)gAg>gGg	p.E138G	SV2A_ENST00000369145.1_Missense_Mutation_p.E138G	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	138					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCGTTGTGCCTCCCCCCGGCC	0.637000													5	636					0	0	0.000274275	0	0
ZNF365	22891	broad.mit.edu	37	10	64135994	64135994	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:64135994G>A	ENST00000395254.3	+	2	322	c.42G>A	c.(40-42)caG>caA	p.Q14Q	ZNF365_ENST00000410046.3_Silent_p.Q14Q|ZNF365_ENST00000395255.3_Silent_p.Q14Q|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCCCTGGCAGGAGTCCTTTG	0.493000													226	398					0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57767199	57767199	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:57767199G>A	ENST00000371030.2	+	1	1125	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	375						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)					AGTCCGAGGGGGAgggcggcc	0.761000													71	106					0	0	0.000781405	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518303	113518303	+	Silent	SNP	C	C	T	rs150965727		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:113518303C>T	ENST00000284601.3	-	4	2912	c.2844G>A	c.(2842-2844)acG>acA	p.T948T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	948					glycogen metabolic process	integral to membrane		p.T948T(3)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTGATTTCGTAGAAATAG	0.378000													22	33					0	0	0.000175454	0	0
OASL	8638	broad.mit.edu	37	12	121471317	121471317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:121471317C>T	ENST00000257570.5	-	2	698	c.428G>A	c.(427-429)aGg>aAg	p.R143K	OASL_ENST00000339275.5_Missense_Mutation_p.R143K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	143					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCAGTCCCCCTGGTCTGGAT	0.622000													212	732					0	0	0.000781405	0	0
C5orf45	51149	broad.mit.edu	37	5	179264663	179264663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:179264663G>A	ENST00000292586.6	-	7	850	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000518219.1_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.P120S|C5orf45_ENST00000376931.2_Missense_Mutation_p.P199S|SQSTM1_ENST00000389805.4_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	254										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GCTGGCCTGGGGTCCCTCTGA	0.587000													260	146					0	0	0.000781405	0	0
SYN3	8224	broad.mit.edu	37	22	33402357	33402357	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:33402357G>A	ENST00000358763.2	-	2	533	c.291C>T	c.(289-291)atC>atT	p.I97I	SYN3_ENST00000332840.5_Silent_p.I97I	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	97	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGCATCATCGATCACCAACA	0.542000													174	271					0	0	0.000781405	0	0
MCF2L	23263	broad.mit.edu	37	13	113679023	113679023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:113679023C>T	ENST00000397030.1	+	3	365	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	MCF2L_ENST00000442652.2_Missense_Mutation_p.P107S|MCF2L_ENST00000375604.2_Missense_Mutation_p.P134S|MCF2L_ENST00000535094.2_Missense_Mutation_p.P77S|MCF2L_ENST00000434480.2_Missense_Mutation_p.P83S|MCF2L_ENST00000375601.3_Missense_Mutation_p.P81S|MCF2L_ENST00000423482.2_Missense_Mutation_p.P75S|MCF2L_ENST00000375597.4_Missense_Mutation_p.P75S|MCF2L_ENST00000375608.3_Missense_Mutation_p.P107S|MCF2L_ENST00000397024.1_Missense_Mutation_p.P75S|MCF2L_ENST00000421756.1_Missense_Mutation_p.P81S			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	107	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGCGAGATTCCGGACAAGGA	0.622000													242	432					0	0	0.000781405	0	0
SRCAP	10847	broad.mit.edu	37	16	30748993	30748993	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30748993C>A	ENST00000262518.4	+	34	8017	c.7632C>A	c.(7630-7632)ccC>ccA	p.P2544P	SRCAP_ENST00000344771.4_Silent_p.P2386P|SRCAP_ENST00000395059.2_Silent_p.P2482P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2544	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTAATCTCCCCTTGGGCTTGA	0.562000													10	940					0.000673444	0.00928291	0.000673444	1	0
CPT1C	126129	broad.mit.edu	37	19	50209263	50209263	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:50209263C>T	ENST00000392518.4	+	11	1434	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	CPT1C_ENST00000598293.1_Silent_p.S354S|CPT1C_ENST00000323446.5_Silent_p.S354S|CPT1C_ENST00000405931.2_Silent_p.S343S|CPT1C_ENST00000354199.5_Silent_p.S354S	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	354					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCTGCTTTCCCCGAGAGCCC	0.612000													254	402					0	0	0.000781405	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													12	583					0	0	6.40141e-05	0	0
SEPT9	10801	broad.mit.edu	37	17	75471799	75471799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:75471799C>T	ENST00000427180.1	+	1	475	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000427674.2_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	0					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AAGTCTTCGCCGGGGCAAGGG	0.652000													174	262					0	0	0.000781405	0	0
HMCN1	83872	broad.mit.edu	37	1	186107027	186107027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:186107027C>T	ENST00000271588.4	+	89	14076	c.13847C>T	c.(13846-13848)cCa>cTa	p.P4616L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4616L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4616	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCAATAATCCATCAGTTCAG	0.493000													31	63					0	0	0.000227799	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269448	100269448	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:100269448G>A	ENST00000545021.1	-	4	1207	c.393C>T	c.(391-393)atC>atT	p.I131I	LYSMD4_ENST00000409796.1_Silent_p.I257I|LYSMD4_ENST00000332728.4_Silent_p.I257I|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Silent_p.I258I			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	257					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AGCCATTGGGGATGACAGTTG	0.488000													395	626					0	0	0.000781405	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461449	76461449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:76461449C>T	ENST00000307431.8	+	5	873	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P167L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P139L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P163L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	164	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAATGGAACCCCAAGGGCAGA	0.408000													17	23					0	0	0.000422831	0	0
ZNF568	374900	broad.mit.edu	37	19	37440439	37440439	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:37440439C>T	ENST00000415168.1	+	5	568	c.192C>T	c.(190-192)atC>atT	p.I64I	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Silent_p.I128I	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	128	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAACAGATCAAGAAGCAAC	0.323000													24	46					0	0	0.000375601	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229602	8229602	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:8229602G>A	ENST00000539824.1	+	12	2327	c.1953G>A	c.(1951-1953)ctG>ctA	p.L651L	SH3TC1_ENST00000245105.3_Silent_p.L727L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	727							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACCTGGTGCTGAGCTGTGTCA	0.667000													141	634					0	0	0.000781405	0	0
GPR26	2849	broad.mit.edu	37	10	125447574	125447574	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:125447574C>T	ENST00000284674.1	+	3	965	c.912C>T	c.(910-912)agC>agT	p.S304S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	304					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				ACCGCAAAAGCTGCAAGGAGA	0.587000													105	257					0	0	0.000781405	0	0
NOC4L	79050	broad.mit.edu	37	12	132629495	132629495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:132629495C>T	ENST00000330579.1	+	2	255	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S		NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	72					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GGGCCAGCTGCCCTCTGAGGA	0.637000													33	91					0	0	0.00058488	0	0
TRIM6	117854	broad.mit.edu	37	11	5624743	5624743	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5624743C>G	ENST00000380097.3	+	2	527	c.285C>G	c.(283-285)aaC>aaG	p.N95K	TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000278302.5_Missense_Mutation_p.N67K|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.N95K|TRIM6_ENST00000380107.1_Missense_Mutation_p.N67K|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000507320.1_Intron	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCCAGGGAACCTGCGGCCTA	0.562000													53	154					0	0	0.000781405	0	0
PRDM14	63978	broad.mit.edu	37	8	70978537	70978537	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:70978537T>A	ENST00000276594.2	-	5	1317	c.1116A>T	c.(1114-1116)aaA>aaT	p.K372N		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TATCCAGAAATTTCTCATAGC	0.512000													229	332					0	0	0.000781405	0	0
NAALADL1	10004	broad.mit.edu	37	11	64812753	64812753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64812753G>A	ENST00000358658.3	-	18	2240	c.2213C>T	c.(2212-2214)gCt>gTt	p.A738V	NAALADL1_ENST00000356632.3_Missense_Mutation_p.A703V|NAALADL1_ENST00000526799.1_Missense_Mutation_p.A85V|NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.A789V|NAALADL1_ENST00000355721.3_Missense_Mutation_p.A697V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	738					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCAGAGGTCAGCCACAGGCCT	0.592000													47	136					0	0	0.000781405	0	0
FAP	2191	broad.mit.edu	37	2	163031387	163031387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:163031387C>T	ENST00000188790.4	-	22	2166	c.1959G>A	c.(1957-1959)tgG>tgA	p.W653*	FAP_ENST00000443424.1_Nonsense_Mutation_p.W628*	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	653					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CGTAATATTCCCAGCTGGAGA	0.398000													11	20					0	0	6.40141e-05	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128616	55128616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:55128616G>A	ENST00000370862.3	+	4	1094	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	253					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R253Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCTGGTGTCGACAGGTATAT	0.368000													4	7					0	0	0.00024832	0	0
OR56A4	120793	broad.mit.edu	37	11	6024169	6024169	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6024169G>A	ENST00000330728.4	-	1	255	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGAAGCAGATGAGGAGGA	0.532000													72	66					0	0	0.000781405	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134934	233134934	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:233134934C>T	ENST00000258229.8	-	31	5754	c.5520G>A	c.(5518-5520)ggG>ggA	p.G1840G	PCNXL2_ENST00000344698.2_Silent_p.G492G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1840						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)				GCCTGTGTGTCCCTAGGTAGG	0.502000													140	101					0	0	0.000781405	0	0
MPP6	51678	broad.mit.edu	37	7	24705247	24705247	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:24705247C>A	ENST00000396475.2	+	8	1123	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	MPP6_ENST00000409761.1_Missense_Mutation_p.P163Q|MPP6_ENST00000222644.4_Missense_Mutation_p.P275Q	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	275	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GGTCTCATTCCAAGCCAGTTC	0.413000													13	17					3.27435e-08	4.67393e-07	0.000219431	1	0
NSMAF	8439	broad.mit.edu	37	8	59499059	59499059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:59499059G>A	ENST00000038176.3	-	28	2616	c.2404C>T	c.(2404-2406)Cca>Tca	p.P802S	NSMAF_ENST00000427130.2_Missense_Mutation_p.P833S	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	802					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GAATGGCATGGAATCTGGTGC	0.388000													56	84					0	0	0.000781405	0	0
XKR4	114786	broad.mit.edu	37	8	56436754	56436754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:56436754C>T	ENST00000327381.5	+	3	2021	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	641						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCCCTTATTCAGGAGCGGTT	0.483000													82	134					0	0	0.000781405	0	0
PTENP1	11191	broad.mit.edu	37	9	33675973	33675973	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:33675973G>A	ENST00000532280.1	-	0	1524					NR_023917.1																						TGAATTGGAGGAATACATCTT	0.443000													218	389					0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	121994865	121994865	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121994865C>T	ENST00000498619.1	+	5	2022	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	CASR_ENST00000296154.5_Silent_p.I528I|CASR_ENST00000490131.1_Silent_p.I528I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	528					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGAGAAAATCCTGTGGAGTG	0.527000													116	161					0	0	0.000781405	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955414	18955414	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:18955414C>T	ENST00000302797.3	-	1	1142	c.918G>A	c.(916-918)ggG>ggA	p.G306G		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	306					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGGAAGCTGCCCTCCACCTT	0.567000													99	101					0	0	0.000781405	0	0
TENM4	26011	broad.mit.edu	37	11	78482078	78482078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:78482078G>A	ENST00000278550.7	-	18	2960	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGTCTCCATGGAAGTGTCACA	0.612000													8	5					0	0	0.000157383	0	0
FER1L6	654463	broad.mit.edu	37	8	124992923	124992923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:124992923G>A	ENST00000522917.1	+	11	1488	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	FER1L6_ENST00000399018.1_Missense_Mutation_p.D428N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	428						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCTTCCAAGGACAAAGACTC	0.453000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	45					0	0	0.000781405	0	0
FYCO1	79443	broad.mit.edu	37	3	46023136	46023136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46023136C>T	ENST00000296137.2	-	3	293	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	FYCO1_ENST00000535325.1_Missense_Mutation_p.E30K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	30					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCCCCTGCTTCCTGAAATTCT	0.388000													183	296					0	0	0.000781405	0	0
C19orf35	374872	broad.mit.edu	37	19	2278609	2278609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:2278609C>T	ENST00000342063.3	-	3	679	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	196										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		TGCCAGGCGTCCTCGTGCGCG	0.667000													177	325					0	0	0.000781405	0	0
PSKH2	85481	broad.mit.edu	37	8	87076749	87076749	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:87076749C>T	ENST00000276616.2	-	2	371	c.297G>A	c.(295-297)agG>agA	p.R99R	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	99	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTCTACCTTCCCTCTCTCTGG	0.502000													170	299					0	0	0.000781405	0	0
CCDC40	55036	broad.mit.edu	37	17	78058622	78058622	+	Silent	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:78058622A>C	ENST00000397545.4	+	13	2097	c.2070A>C	c.(2068-2070)gcA>gcC	p.A690A	CCDC40_ENST00000374877.3_Silent_p.A690A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	690					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCTGGACGCACACCAGAAGA	0.532000													114	208					0	0	0.000781405	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627001	43627001	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:43627001C>T	ENST00000332857.6	-	4	1714	c.1686G>A	c.(1684-1686)caG>caA	p.Q562Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TAAAGACGTCCTGAGATTTTT	0.488000													303	136					0	0	0.000781405	0	0
CACHD1	57685	broad.mit.edu	37	1	65130324	65130324	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:65130324C>T	ENST00000371073.2	+	15	2238	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S	CACHD1_ENST00000290039.5_Silent_p.S695S|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	746					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATCCTGGTTCCCTCATGGACA	0.458000													48	129					0	0	0.000781405	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883016	4883016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:4883016G>A	ENST00000361571.5	-	8	2009	c.1598C>T	c.(1597-1599)aCc>aTc	p.T533I	CAMTA2_ENST00000414043.3_Missense_Mutation_p.T557I|CAMTA2_ENST00000381311.5_Missense_Mutation_p.T536I|CAMTA2_ENST00000348066.3_Missense_Mutation_p.T534I|CAMTA2_ENST00000572543.1_Missense_Mutation_p.T539I|CAMTA2_ENST00000358183.4_Missense_Mutation_p.T534I	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	534					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTCTGTGATGGTGCTAAGAGC	0.532000													374	242					0	0	0.000781405	0	0
PROL1	58503	broad.mit.edu	37	4	71275649	71275649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71275649G>A	ENST00000399575.2	+	3	778	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	202	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AGCATCTACTGAAAATACTAC	0.483000													77	345					0	0	0.000781405	0	0
C3	718	broad.mit.edu	37	19	6697806	6697806	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:6697806C>T	ENST00000245907.6	-	20	2533		c.e20-1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACACAGATCCCTGCTCGGGCA	0.577000													36	72					0	0	0.000319135	0	0
PLCL2	23228	broad.mit.edu	37	3	17053498	17053498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:17053498G>A	ENST00000418129.2	+	2	2747	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E	PLCL2_ENST00000396755.2_Missense_Mutation_p.G761E|PLCL2_ENST00000432376.1_Missense_Mutation_p.G761E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	887	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGAGGAGGAGGAAAGCCTCAT	0.478000													24	28					0	0	0.00047179	0	0
SYCE1	93426	broad.mit.edu	37	10	135369180	135369180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:135369180C>T	ENST00000368517.3	-	11	781	c.643G>A	c.(643-645)Gag>Aag	p.E215K	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.E215K|SYCE1_ENST00000343131.5_Missense_Mutation_p.E251K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	251					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGGAGCTCCTCAGCCTTCCTG	0.652000													73	162					0	0	0.000781405	0	0
KIF2C	11004	broad.mit.edu	37	1	45227596	45227596	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:45227596G>A	ENST00000372217.1	+	16	1881	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Silent_p.T523T|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372224.4_Silent_p.T564T|KIF2C_ENST00000372222.3_Silent_p.T451T			Q99661	KIF2C_HUMAN	kinesin family member 2C	564	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AGATTGCCACGATCTCACCAG	0.512000													151	272					0	0	0.000781405	0	0
BAP1	8314	broad.mit.edu	37	3	52443604	52443604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52443604C>T	ENST00000460680.1	-	3	559	c.88G>A	c.(88-90)Gag>Aag	p.E30K	BAP1_ENST00000296288.5_Missense_Mutation_p.E30K	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	30					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TAGATCTCCTCCACTTGCACC	0.617000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							797	1341					0	0	0.000781405	0	0
UBE2W	55284	broad.mit.edu	37	8	74782503	74782503	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:74782503C>T	ENST00000602969.1	-	2	101		c.e2+1		RP11-463D19.2_ENST00000358757.5_Intron|UBE2W_ENST00000602593.1_Intron|UBE2W_ENST00000453587.2_Intron|UBE2W_ENST00000419880.3_Splice_Site|UBE2W_ENST00000517608.1_Intron	NM_001001481.1	NP_001001481.2	Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)						protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			CACACACTTACTGGAAACCAT	0.338000													17	35					0	0	0.000566183	0	0
SIN3A	25942	broad.mit.edu	37	15	75722576	75722576	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:75722576G>A	ENST00000394947.3	-	2	455	c.141C>T	c.(139-141)acC>acT	p.T47T	SIN3A_ENST00000567289.1_Silent_p.T47T|SIN3A_ENST00000394949.4_Silent_p.T47T|SIN3A_ENST00000360439.4_Silent_p.T47T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	47					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTGACTGCATGGTCTCAGACA	0.557000													53	63					0	0	0.000781405	0	0
HVCN1	84329	broad.mit.edu	37	12	111089095	111089095	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:111089095G>A	ENST00000356742.5	-	5	1323	c.570C>T	c.(568-570)ttC>ttT	p.F190F	HVCN1_ENST00000242607.8_Silent_p.F190F|HVCN1_ENST00000439744.2_Silent_p.F170F|HVCN1_ENST00000548312.1_Silent_p.F190F			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	190					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.F190F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGTGCTCCTGGAACAGGAGGA	0.557000													39	85					0	0	0.000953801	0	0
SOX14	8403	broad.mit.edu	37	3	137483785	137483785	+	Silent	SNP	G	G	A	rs145435950		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:137483785G>A	ENST00000306087.1	+	1	207	c.159G>A	c.(157-159)gaG>gaA	p.E53E		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	53					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCGAGGCAGAGAAGCGGCCAT	0.602000													74	340					0	0	0.000781405	0	0
CALCR	799	broad.mit.edu	37	7	93090138	93090138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:93090138C>T	ENST00000359558.2	-	10	1044	c.745G>A	c.(745-747)Gac>Aac	p.D249N	CALCR_ENST00000360249.4_Missense_Mutation_p.D231N|CALCR_ENST00000421592.1_Missense_Mutation_p.D231N|CALCR_ENST00000394441.1_Missense_Mutation_p.D215N|CALCR_ENST00000426151.1_Missense_Mutation_p.D215N	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	231					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTTACCGGGTCCCTTCGCACG	0.383000													9	15					0	0	0.000442599	0	0
GFER	2671	broad.mit.edu	37	16	2035892	2035892	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2035892C>A	ENST00000248114.6	+	3	487	c.481C>A	c.(481-483)Cgc>Agc	p.R161S	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.R86S|GFER_ENST00000569451.1_Missense_Mutation_p.P95Q	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	161	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	p.R161S(1)		endometrium(1)|large_intestine(1)|lung(3)	5						CCCAGACACCCGCACCCGGGC	0.597000													16	1376					0.000422831	0.00590348	0.000422831	1	0
SAMD7	344658	broad.mit.edu	37	3	169656145	169656145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:169656145C>T	ENST00000428432.2	+	9	1581	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	SAMD7_ENST00000335556.3_Missense_Mutation_p.L398F	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	398										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGAAAACTCTTTCATTTCC	0.333000													66	115					0	0	0.000781405	0	0
NUMA1	4926	broad.mit.edu	37	11	71715117	71715117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:71715117C>T	ENST00000393695.3	-	26	6483	c.6152G>A	c.(6151-6153)aGc>aAc	p.S2051N	NUMA1_ENST00000358965.6_Missense_Mutation_p.S2037N|NUMA1_ENST00000351960.6_Missense_Mutation_p.S915N	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2051					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTTGAGGATGCTGAAGGCCAT	0.627000			T	RARA	APL								448	502					0	0	0.000781405	0	0
ACACA	31	broad.mit.edu	37	17	35563735	35563735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:35563735G>A	ENST00000353139.5	-	32	4391	c.3910C>T	c.(3910-3912)Cct>Tct	p.P1304S	ACACA_ENST00000394406.2_Missense_Mutation_p.P1267S|ACACA_ENST00000360679.3_Missense_Mutation_p.P1209S|ACACA_ENST00000335166.5_Missense_Mutation_p.P1189S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1267					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGCCTCAGGGAATGTGGGA	0.463000													39	55					0	0	0.000509022	0	0
C10orf71	118461	broad.mit.edu	37	10	50531756	50531756	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:50531756A>T	ENST00000374144.3	+	3	1454	c.1166A>T	c.(1165-1167)aAa>aTa	p.K389I	C10orf71_ENST00000323868.4_Missense_Mutation_p.K389I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	389										endometrium(1)	1						ACTGGCAAAAAAGGGAAAGAA	0.478000													230	382					0	0	0.000781405	0	0
NOL4	8715	broad.mit.edu	37	18	31803000	31803000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:31803000C>T	ENST00000261592.5	-	1	515	c.218G>A	c.(217-219)gGa>gAa	p.G73E	NOL4_ENST00000589544.1_Missense_Mutation_p.G73E|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	73						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCCGCCGCCTCCCCCGCGGAC	0.622000													196	294					0	0	0.000781405	0	0
SMURF1	57154	broad.mit.edu	37	7	98643359	98643359	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:98643359G>A	ENST00000361125.1	-	12	1615	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	AC004893.11_ENST00000482799.2_RNA|SMURF1_ENST00000361368.2_Silent_p.F406F|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	432	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CTTCCCCACGGAATTTCACCA	0.468000													167	331					0	0	0.000781405	0	0
TOX	9760	broad.mit.edu	37	8	59764150	59764150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:59764150C>T	ENST00000361421.1	-	4	846	c.626G>A	c.(625-627)gGa>gAa	p.G209E		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	209						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGACTTGCTTCCAGGTGGAGA	0.458000													9	27					0	0	0.00010058	0	0
HOXB6	3216	broad.mit.edu	37	17	46673892	46673892	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:46673892C>T	ENST00000484302.2	-	3	1180	c.558G>A	c.(556-558)acG>acA	p.T186T	HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB6_ENST00000225648.3_Silent_p.T186T|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000465846.2_RNA			P17509	HXB6_HUMAN	homeobox B6	186					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCTGCCTCTCCGTCAGGCACA	0.582000													635	1145					0	0	0.000781405	0	0
OTOF	9381	broad.mit.edu	37	2	26706495	26706495	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:26706495C>T	ENST00000272371.2	-	13	1353	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	OTOF_ENST00000403946.3_Silent_p.G409G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	409	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGGGGCACCCCCTCGGGGA	0.607000													84	174					0	0	0.000781405	0	0
C8orf44	56260	broad.mit.edu	37	8	67592170	67592170	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:67592170C>A	ENST00000519561.1	+	3	612	c.461C>A	c.(460-462)tCt>tAt	p.S154Y	C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44-SGK3_ENST00000519289.1_5'UTR|C8orf44_ENST00000390159.3_Missense_Mutation_p.S154Y|C8orf44_ENST00000518860.1_3'UTR	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	154										endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTTCTGTTCTCTAACCTTGGA	0.438000													41	88					5.04308e-16	7.23999e-15	0.000228196	1	0
NEB	4703	broad.mit.edu	37	2	152522801	152522801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:152522801G>A	ENST00000397345.3	-	41	5036	c.4834C>T	c.(4834-4836)Cgt>Tgt	p.R1612C	NEB_ENST00000604864.1_Missense_Mutation_p.R1612C|NEB_ENST00000603639.1_Missense_Mutation_p.R1612C|NEB_ENST00000427231.2_Missense_Mutation_p.R1612C|NEB_ENST00000409198.1_Missense_Mutation_p.R1612C|NEB_ENST00000172853.10_Missense_Mutation_p.R1612C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1612					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTACTCACGATCAGACTGG	0.473000													118	199					0	0	0.000781405	0	0
CACNG5	27091	broad.mit.edu	37	17	64880637	64880637	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:64880637C>T	ENST00000533854.1	+	5	666	c.429C>T	c.(427-429)ctC>ctT	p.L143L	CACNG5_ENST00000169565.3_Silent_p.L143L|CACNG5_ENST00000307139.3_Silent_p.L143L			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	143					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AACCAGGCCTCTCTCTCGTGG	0.567000													58	89					0	0	0.000781405	0	0
SYPL2	284612	broad.mit.edu	37	1	110022024	110022024	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:110022024C>T	ENST00000369872.3	+	6	889	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	SYPL2_ENST00000401021.3_Silent_p.L161L	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	225	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CAACTTCTTCCTGTGGGCCGG	0.572000													1146	1955					0	0	0.000781405	0	0
ECI1	1632	broad.mit.edu	37	16	2294497	2294497	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2294497G>A	ENST00000301729.4	-	4	398	c.351C>T	c.(349-351)agC>agT	p.S117S	ECI1_ENST00000562238.1_Silent_p.S117S|ECI1_ENST00000570258.1_Silent_p.S58S	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	117					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						AGTGGGCGGGGCTCCTCCCAC	0.667000													65	118					0	0	0.000781405	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582627	64582627	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:64582627A>G	ENST00000498707.1	-	27	4400	c.4058T>C	c.(4057-4059)gTt>gCt	p.V1353A	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1325A	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1353	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGACATACAACAACACGCCG	0.498000													97	166					0	0	0.000781405	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103027349	103027349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:103027349C>T	ENST00000375735.2	+	26	4121	c.3977C>T	c.(3976-3978)tCa>tTa	p.S1326L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S1326L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1326	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATAAAGTATCAATTTGGGAA	0.348000													28	15					0	0	0.000878237	0	0
RBM42	79171	broad.mit.edu	37	19	36125257	36125257	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:36125257C>T	ENST00000262633.4	+	8	1222	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	RBM42_ENST00000360475.4_Silent_p.L344L|RBM42_ENST00000589871.1_Silent_p.L351L|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Silent_p.L319L|RBM42_ENST00000589559.1_Silent_p.L344L|RBM42_ENST00000588161.1_Silent_p.L343L	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	373	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCCCAGCCTGCTGGAGTG	0.627000													178	324					0	0	0.000781405	0	0
ZEB1	6935	broad.mit.edu	37	10	31810320	31810320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:31810320C>T	ENST00000446923.2	+	7	2400	c.2009C>T	c.(2008-2010)tCc>tTc	p.S670F	ZEB1_ENST00000320985.10_Missense_Mutation_p.S686F|ZEB1_ENST00000560721.2_Missense_Mutation_p.S666F|ZEB1_ENST00000542815.3_Missense_Mutation_p.S619F|ZEB1_ENST00000361642.5_Missense_Mutation_p.S687F|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	686					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGACTAACTCCCCAGTTTTA	0.443000													6	15					0	0	3.59834e-05	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386417	41386417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41386417C>T	ENST00000301146.4	-	3	1001	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.G103S	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	154						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGAGGAAGCCCGACTCCTCC	0.677000													110	345					0	0	0.000781405	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	153					0	0	0.000274275	0	0
DSP	1832	broad.mit.edu	37	6	7583110	7583110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:7583110C>T	ENST00000379802.3	+	24	5956	c.5615C>T	c.(5614-5616)tCc>tTc	p.S1872F	DSP_ENST00000418664.2_Missense_Mutation_p.S1273F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1872	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTCAATATTCCCGCAAGGAG	0.453000													168	281					0	0	0.000781405	0	0
FAT1	2195	broad.mit.edu	37	4	187525728	187525728	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:187525728C>T	ENST00000441802.2	-	18	10560	c.10350_splice	c.e18-1	p.E3451_splice		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3451	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCTTATTTTCCTGCACAAGA	0.378000										HNSCC(5;0.00058)			47	13					0	0	0.000680045	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529669	6529669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:6529669C>T	ENST00000377748.1	-	18	2596	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R623K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R702K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R623K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R623K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R660K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R623K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.R700K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R692K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R623K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R623K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R679K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	679	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GACCCTGGTCCTCTCTGCCTT	0.612000													312	511					0	0	0.000781405	0	0
FBN1	2200	broad.mit.edu	37	15	48789529	48789529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:48789529G>A	ENST00000316623.5	-	19	2682	c.2227C>T	c.(2227-2229)Cgt>Tgt	p.R743C		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	743	EGF-like 11; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGGTCCCACGAAGGTTTTCA	0.353000													58	59					0	0	0.000781405	0	0
SYCP2	10388	broad.mit.edu	37	20	58475246	58475246	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:58475246A>T	ENST00000357552.3	-	18	1576	c.1351T>A	c.(1351-1353)Tca>Aca	p.S451T	SYCP2_ENST00000371001.2_Missense_Mutation_p.S451T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	451					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATATTTTGAAGGTTTAGCA	0.358000													32	52					0	0	0.000279167	0	0
FOLH1	2346	broad.mit.edu	37	11	49178313	49178313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:49178313G>A	ENST00000340334.7	-	16	1902	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*	FOLH1_ENST00000343844.4_Nonsense_Mutation_p.R219*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.R527*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.R512*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.R527*	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	527	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATTCCAAGTCGTTGGAAGAAC	0.303000													22	85					0	0	0.000184323	0	0
HTR2C	3358	broad.mit.edu	37	X	114141940	114141940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:114141940C>T	ENST00000276198.1	+	6	2067	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	HTR2C_ENST00000371951.1_Missense_Mutation_p.P447S|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	447					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCAGTAAATCCCTCCAGTGT	0.413000													25	9					0	0	0.000878237	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951033	119951033	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:119951033A>T	ENST00000307142.4	+	4	1299	c.1103A>T	c.(1102-1104)cAa>cTa	p.Q368L	SYNPO2_ENST00000434046.2_Missense_Mutation_p.Q368L|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.Q368L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	368						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAGAAAAACAAGTGAAGGAA	0.433000													144	120					0	0	0.000781405	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15126324	15126324	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:15126324G>A	ENST00000253699.3	-	8	1129	c.516C>T	c.(514-516)atC>atT	p.I172I	ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Silent_p.I172I|ZFYVE20_ENST00000476527.2_Silent_p.I172I	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	172	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGCGGTTCCGGATGCTGAACT	0.532000													118	170					0	0	0.000781405	0	0
LCP2	3937	broad.mit.edu	37	5	169720331	169720331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:169720331C>T	ENST00000046794.5	-	2	739	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	42	SAM.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CGAGCCCCATCGATGTGGTAC	0.517000													10	6					0	0	6.40141e-05	0	0
PTPRS	5802	broad.mit.edu	37	19	5231452	5231452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:5231452G>A	ENST00000372412.4	-	14	2260	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	PTPRS_ENST00000357368.4_Missense_Mutation_p.P675L|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.P662L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P671L|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.P662L|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000587303.1_Missense_Mutation_p.P675L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	675	Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGTGGTCGGGGGGATGCCGTT	0.672000													142	268					0	0	0.000781405	0	0
NPHS1	4868	broad.mit.edu	37	19	36333054	36333054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:36333054C>T	ENST00000378910.5	-	19	2634	c.2635G>A	c.(2635-2637)Ggg>Agg	p.G879R	NPHS1_ENST00000353632.6_Missense_Mutation_p.G879R	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	879	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAGGGACCCCGTTTTTTGTC	0.617000													91	130					0	0	0.000781405	0	0
CDR2L	30850	broad.mit.edu	37	17	72998256	72998256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:72998256G>A	ENST00000337231.5	+	4	851	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	147												all_lung(278;0.226)					AGTGCTCCGGGAGAAGCGGGA	0.642000													61	85					0	0	0.000781405	0	0
LAMB2	3913	broad.mit.edu	37	3	49159008	49159008	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:49159008C>A	ENST00000418109.1	-	32	5282	c.5118G>T	c.(5116-5118)ctG>ctT	p.L1706L	LAMB2_ENST00000305544.4_Silent_p.L1706L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1706	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGATCACCCAGAGGACCGC	0.612000													13	562					0.00010058	0.00141583	0.00010058	1	0
NR1H3	10062	broad.mit.edu	37	11	47290146	47290146	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:47290146C>A	ENST00000467728.1	+	9	2481	c.1243C>A	c.(1243-1245)Cgg>Agg	p.R415R	NR1H3_ENST00000395397.3_Silent_p.R370R|NR1H3_ENST00000405853.3_Silent_p.R355R|NR1H3_ENST00000405576.1_Silent_p.R310R|NR1H3_ENST00000407404.1_Silent_p.R355R|NR1H3_ENST00000481889.2_Silent_p.R434R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_Silent_p.R264R|NR1H3_ENST00000441012.2_Silent_p.R415R			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	415	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGTGAGCCTCCGGACCCTGAG	0.572000													12	885					0.000151284	0.00212865	0.000151284	1	0
BAI3	577	broad.mit.edu	37	6	69684752	69684752	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:69684752C>A	ENST00000370598.1	+	9	2444	c.1623C>A	c.(1621-1623)gcC>gcA	p.A541A		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	541					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCCTGAATGCCACAGGTACAG	0.453000													4	28					3.59834e-05	0.000509835	3.59834e-05	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140802553	140802553	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:140802553T>A	ENST00000398587.2	+	1	1792	c.1759T>A	c.(1759-1761)Tac>Aac	p.Y587N	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.Y587N|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACCTGGCTACCTGGTGAC	0.647000													455	246					0	0	0.000781405	0	0
OR4N2	390429	broad.mit.edu	37	14	20296159	20296159	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20296159C>T	ENST00000315947.1	+	1	552	c.552C>T	c.(550-552)gtC>gtT	p.V184V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCCACAGGTCATCAAGCTGG	0.542000													37	145					0	0	0.000319135	0	0
AOAH	313	broad.mit.edu	37	7	36657925	36657925	+	Silent	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:36657925T>A	ENST00000431169.1	-	10	1029	c.729A>T	c.(727-729)ccA>ccT	p.P243P	AOAH_ENST00000258749.5_Silent_p.P243P|AOAH_ENST00000535891.1_Silent_p.P211P	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	243					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTTCTCATATGGAACTCCAT	0.328000													30	47					0	0	0.000228196	0	0
ZNF527	84503	broad.mit.edu	37	19	37880001	37880001	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:37880001G>A	ENST00000436120.2	+	5	1157	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACATCAGAGGATCCACACTG	0.438000													51	74					0	0	0.000781405	0	0
HEATR3	55027	broad.mit.edu	37	16	50112882	50112882	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:50112882C>A	ENST00000299192.7	+	7	1185	c.994C>A	c.(994-996)Cat>Aat	p.H332N	HEATR3_ENST00000285767.4_Missense_Mutation_p.H246N	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	332							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGGAATTTCTCATAAAAGAAG	0.353000													79	157					5.68823e-23	8.17702e-22	0.000781405	1	0
BMP3	651	broad.mit.edu	37	4	81952627	81952627	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:81952627C>T	ENST00000282701.2	+	1	509	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	63					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGCTGCGGCTCTATGACAGGT	0.692000													65	260					0	0	0.000781405	0	0
PEF1	553115	broad.mit.edu	37	1	32101024	32101024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:32101024G>A	ENST00000373703.4	-	2	146	c.124C>T	c.(124-126)Cct>Tct	p.P42S	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Missense_Mutation_p.P42S	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	42	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCACCACCAGGGGGTAGCCCA	0.647000													64	113					0	0	0.000781405	0	0
ZRANB1	54764	broad.mit.edu	37	10	126670318	126670318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:126670318C>T	ENST00000359653.4	+	6	1839	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	490	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		ATGGTATTCTCAGAGCTTTGG	0.343000													42	80					0	0	0.000781405	0	0
ITGAL	3683	broad.mit.edu	37	16	30495178	30495178	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30495178C>T	ENST00000356798.6	+	8	933	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.A168A|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	251	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGCTGGGGGCCCGGCCAGATG	0.582000													361	466					0	0	0.000781405	0	0
SS18L1	26039	broad.mit.edu	37	20	60734000	60734000	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:60734000T>C	ENST00000370848.4	+	1	155		c.e1+2		SS18L1_ENST00000331758.3_Intron|SS18L1_ENST00000421564.1_Intron			O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1						chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCACGGAGGTCAGATATGTC	0.627000			T	SSX1	synovial sarcoma								10	1262					0	0	0.000673444	0	0
TMEM182	130827	broad.mit.edu	37	2	103414377	103414377	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:103414377C>T	ENST00000412401.2	+	4	592	c.387C>T	c.(385-387)atC>atT	p.I129I	TMEM182_ENST00000409528.1_Silent_p.I33I|TMEM182_ENST00000409173.1_Silent_p.I86I|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	129						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTGTAGTCATCGCAAGCTTTT	0.498000													131	207					0	0	0.000781405	0	0
NLRP11	204801	broad.mit.edu	37	19	56321645	56321645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56321645G>A	ENST00000443188.1	-	5	1041	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	NLRP11_ENST00000589824.2_Missense_Mutation_p.H111Y|NLRP11_ENST00000592953.1_Missense_Mutation_p.H12Y|NLRP11_ENST00000360133.3_Missense_Mutation_p.H111Y|NLRP11_ENST00000589093.1_Missense_Mutation_p.H111Y	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	111							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCAAAAGTGTGACTTTCCCAT	0.383000													28	61					0	0	0.000227799	0	0
ZNF697	90874	broad.mit.edu	37	1	120165658	120165658	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:120165658G>A	ENST00000421812.2	-	3	1427	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GGCACACGTAGGGCCGCTCAC	0.667000													32	72					0	0	0.000953801	0	0
XIRP2	129446	broad.mit.edu	37	2	168067285	168067285	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:168067285A>C	ENST00000409195.1	+	4	692	c.603A>C	c.(601-603)gaA>gaC	p.E201D	XIRP2_ENST00000409043.1_Missense_Mutation_p.E201D|XIRP2_ENST00000420519.1_Missense_Mutation_p.E234D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E201D|XIRP2_ENST00000409728.1_Missense_Mutation_p.E234D|XIRP2_ENST00000409756.2_Missense_Mutation_p.E201D|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000409273.1_5'UTR	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	26					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATTTGCAGAAGACAGTGCTG	0.532000													186	281					0	0	0.000781405	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914857	61914857	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61914857G>A	ENST00000448276.2	-	2	610	c.345C>T	c.(343-345)ttC>ttT	p.F115F	SMARCD2_ENST00000323347.10_Silent_p.F67F|SMARCD2_ENST00000225742.9_Silent_p.F40F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	115	Pro-rich.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GGCGTTTTCGGAATGGATCCA	0.637000													410	729					0	0	0.000781405	0	0
SLX4	84464	broad.mit.edu	37	16	3640521	3640521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3640521G>A	ENST00000294008.3	-	12	3758	c.3118C>T	c.(3118-3120)Ccc>Tcc	p.P1040S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1040	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCGCCCTGGGGAGGCCCCAAT	0.662000								Direct reversal of damage					419	563					0	0	0.000781405	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189689	50189689	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:50189689G>C	ENST00000335999.6	-	8	2155	c.1954C>G	c.(1954-1956)Cga>Gga	p.R652G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	648										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TCCCCAGGTCGCCGTCCTGAC	0.662000													30	87					0	0	0.000184323	0	0
ACACB	32	broad.mit.edu	37	12	109644522	109644522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:109644522C>T	ENST00000338432.7	+	20	3040	c.2921C>T	c.(2920-2922)cCg>cTg	p.P974L	ACACB_ENST00000377854.5_Missense_Mutation_p.P974L|ACACB_ENST00000377848.3_Missense_Mutation_p.P974L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	974					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGGCTGAACCGTTCACAGGA	0.567000													194	932					0	0	0.000781405	0	0
S100PBP	64766	broad.mit.edu	37	1	33291714	33291714	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:33291714G>T	ENST00000373475.5	+	3	268	c.14G>T	c.(13-15)cGg>cTg	p.R5L	S100PBP_ENST00000398243.3_Missense_Mutation_p.R5L|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.R5L	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	5						nucleus	calcium-dependent protein binding	p.R5L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ATGTGCTCACGGGTGCCCTCT	0.448000													9	620					0.000673444	0.00928291	0.000673444	1	0
ZNF213	7760	broad.mit.edu	37	16	3188445	3188445	+	Missense_Mutation	SNP	C	C	A	rs7194765	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3188445C>A	ENST00000416391.2	+	2	248	c.26C>A	c.(25-27)cCg>cAg	p.P9Q	ZNF213_ENST00000396878.3_Silent_p.P142P|ZNF213_ENST00000576416.1_Silent_p.P142P|ZNF213_ENST00000574902.1_Silent_p.P142P			O14771	ZN213_HUMAN	zinc finger protein 213	0					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGCGGAACCCGAGGCTGCAG	0.682000													10	813					0.000673444	0.00928291	0.000673444	1	0
LLGL2	3993	broad.mit.edu	37	17	73559867	73559867	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:73559867C>T	ENST00000392550.3	+	9	978	c.861C>T	c.(859-861)ctC>ctT	p.L287L	LLGL2_ENST00000167462.5_Silent_p.L287L|LLGL2_ENST00000375227.4_Silent_p.L287L|LLGL2_ENST00000578363.1_Silent_p.L287L|LLGL2_ENST00000577200.1_Silent_p.L287L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	287					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.L287L(1)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAGAATCCTCTGGCTGACCA	0.542000													306	495					0	0	0.000781405	0	0
UNC79	57578	broad.mit.edu	37	14	94044276	94044276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:94044276C>T	ENST00000553484.1	+	18	2454	c.2300C>T	c.(2299-2301)cCt>cTt	p.P767L	UNC79_ENST00000555664.1_Missense_Mutation_p.P767L|UNC79_ENST00000393151.2_Missense_Mutation_p.P767L|UNC79_ENST00000256339.4_Missense_Mutation_p.P590L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	767						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTCGGAGTCCTTTGCGTAGT	0.438000													71	120					0	0	0.000781405	0	0
KDM4A	9682	broad.mit.edu	37	1	44149375	44149375	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:44149375T>A	ENST00000372396.3	+	12	1889	c.1755T>A	c.(1753-1755)ttT>ttA	p.F585L		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	585					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AATACATGTTTTCCCTAGAAG	0.468000													75	118					0	0	0.000781405	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1																						AGCTGAATCATGCAGAATTTG	0.408000													4	131					0	0	8.12818e-05	0	0
TNIP2	79155	broad.mit.edu	37	4	2749475	2749475	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:2749475C>T	ENST00000510267.1	-	2	580	c.153G>A	c.(151-153)ctG>ctA	p.L51L	TNIP2_ENST00000503235.1_Silent_p.L158L|TNIP2_ENST00000315423.7_Silent_p.L158L	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	158						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGTGGCGGTCAGCGTCCTCC	0.637000													1104	731					0	0	0.000781405	0	0
FAT2	2196	broad.mit.edu	37	5	150929003	150929003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150929003C>T	ENST00000261800.5	-	8	4654	c.4642G>A	c.(4642-4644)Gga>Aga	p.G1548R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1548	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGGTTTCCATCCTCCACA	0.552000													39	22					0	0	0.000374591	0	0
RTF1	23168	broad.mit.edu	37	15	41772833	41772833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:41772833C>T	ENST00000389629.4	+	18	2093	c.2081C>T	c.(2080-2082)cCa>cTa	p.P694L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	694					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATGGGGCTCCAAGGAGATCT	0.552000													166	325					0	0	0.000781405	0	0
PRG4	10216	broad.mit.edu	37	1	186276588	186276588	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:186276588T>C	ENST00000445192.2	+	7	1782	c.1737T>C	c.(1735-1737)acT>acC	p.T579T	PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367483.4_Silent_p.T538T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	579	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T579T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCCCCAACTACCCCCAAGG	0.647000													25	415					0	0	0.000147802	0	0
STAT1	6772	broad.mit.edu	37	2	191874645	191874645	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:191874645C>G	ENST00000361099.3	-	3	472	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	STAT1_ENST00000540176.1_Missense_Mutation_p.E29Q|STAT1_ENST00000392322.3_Missense_Mutation_p.E29Q|STAT1_ENST00000392323.2_Missense_Mutation_p.E31Q|STAT1_ENST00000409465.1_Missense_Mutation_p.E29Q	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	29					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGTCTGATTTCCATGGGAAAA	0.413000													336	522					0	0	0.000781405	0	0
C10orf113	387638	broad.mit.edu	37	10	21435362	21435362	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:21435362G>A	ENST00000529198.1	-	1	126	c.76C>T	c.(76-78)Cta>Tta	p.L26L	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Silent_p.L16L|C10orf113_ENST00000534331.1_Silent_p.L26L	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	26										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATATAAGCTAGAGGACAGCCA	0.378000													17	61					0	0	0.000422831	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447494	74447494	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:74447494G>A	ENST00000339953.5	-	4	658	c.537C>T	c.(535-537)gtC>gtT	p.V179V		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	179	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTAGGCACAGACAAAGGCTT	0.612000													11	1255					0	0	0.000227799	0	0
CD163L1	283316	broad.mit.edu	37	12	7528442	7528442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:7528442C>T	ENST00000313599.3	-	10	2597	c.2540G>A	c.(2539-2541)gGa>gAa	p.G847E	CD163L1_ENST00000396630.1_Missense_Mutation_p.G847E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G857E|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	847	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.G847V(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAGTGATCTCCCACAGAAAG	0.463000													82	88					0	0	0.000781405	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268125	103268125	+	Silent	SNP	C	C	T	rs138729092	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:103268125C>T	ENST00000217926.5	-	1	134	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	36					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CCTCAGAGGTCGTCTCAGAGG	0.627000													147	227					0	0	0.000781405	0	0
ZNF462	58499	broad.mit.edu	37	9	109689499	109689499	+	Silent	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:109689499A>C	ENST00000277225.5	+	3	3595	c.3306A>C	c.(3304-3306)ccA>ccC	p.P1102P	ZNF462_ENST00000457913.1_Silent_p.P1102P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACCCCCCCCACAACCCCCGC	0.527000													6	154					0	0	0.000566183	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666168	133666168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:133666168C>T	ENST00000310926.4	-	9	1500	c.1227G>A	c.(1225-1227)atG>atA	p.M409I	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.M333I	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	409					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CACAAAGGATCATGGAGATGG	0.507000													79	145					0	0	0.000781405	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131106	150131106	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:150131106C>T	ENST00000369124.4	+	6	896	c.618C>T	c.(616-618)agC>agT	p.S206S	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Silent_p.S23S|PLEKHO1_ENST00000025469.6_Silent_p.S172S	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	206	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGCTGAGAGCTTTCGGGTTG	0.617000													411	330					0	0	0.000781405	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396178	1396178	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1396178C>T	ENST00000378785.2	+	10	1856	c.861C>T	c.(859-861)gcC>gcT	p.A287A		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	287							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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)		TCGACTGGGCCATCAATGCCT	0.622000													71	100					0	0	0.000781405	0	0
RIMS1	22999	broad.mit.edu	37	6	72955546	72955546	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:72955546C>G	ENST00000264839.7	+	11	2110	c.2110C>G	c.(2110-2112)Cac>Gac	p.H704D	RIMS1_ENST00000522291.1_Missense_Mutation_p.H704D|RIMS1_ENST00000518273.1_Missense_Mutation_p.H704D|RIMS1_ENST00000517827.1_Missense_Mutation_p.H163D|RIMS1_ENST00000523963.1_Missense_Mutation_p.H178D|RIMS1_ENST00000521978.1_Missense_Mutation_p.H704D|RIMS1_ENST00000348717.5_Missense_Mutation_p.H704D|RIMS1_ENST00000520567.1_Missense_Mutation_p.H704D|RIMS1_ENST00000517960.1_Missense_Mutation_p.H704D|RIMS1_ENST00000491071.2_Missense_Mutation_p.H704D|RIMS1_ENST00000401910.3_Missense_Mutation_p.H178D|RIMS1_ENST00000425662.2_Missense_Mutation_p.H97D			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	704					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGAGAGCTCCCACCCTCCACT	0.363000													3	18					0	0	0.000602214	0	0
ABCB11	8647	broad.mit.edu	37	2	169792784	169792784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:169792784C>T	ENST00000263817.6	-	22	2894	c.2770G>A	c.(2770-2772)Gga>Aga	p.G924R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	924	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAGGCAAATCCTGTCAACATC	0.493000													12	31					0	0	0.000219431	0	0
ADNP2	22850	broad.mit.edu	37	18	77894694	77894694	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:77894694C>T	ENST00000262198.4	+	4	1853	c.1398C>T	c.(1396-1398)atC>atT	p.I466I		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	466					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGGGGTTATCCCTGGGCAAA	0.612000													166	270					0	0	0.000781405	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87329745	87329745	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:87329745A>G	ENST00000338056.3	+	4	709	c.298A>G	c.(298-300)Acc>Gcc	p.T100A	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T83A|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T83A	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	100	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGGTCAAGTAACCTGGTTTGG	0.338000													20	27					0	0	0.000958276	0	0
MIR3654	100500804	broad.mit.edu	37	11	62346323	62346323	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62346323C>T	ENST00000496634.2	-	5	915	c.870G>A	c.(868-870)ccG>ccA	p.P290P	TUT1_ENST00000308436.7_Silent_p.P328P|TUT1_ENST00000476907.1_Silent_p.P290P																NS(1)	1						AGGCAGAGTCCGGAGTTTGGG	0.617000													167	173					0	0	0.000781405	0	0
MAP3K11	4296	broad.mit.edu	37	11	65367187	65367187	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:65367187G>A	ENST00000309100.3	-	9	2369	c.1884C>T	c.(1882-1884)ccC>ccT	p.P628P	MAP3K11_ENST00000530153.1_Silent_p.P371P|MAP3K11_ENST00000532507.1_Silent_p.P44P|MAP3K11_ENST00000534432.1_5'UTR	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	628	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGCGCTCTGCGGGGACAGGCC	0.726000													31	103					0	0	0.000191422	0	0
MYH11	4629	broad.mit.edu	37	16	15870018	15870018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:15870018G>A	ENST00000338282.6	-	8	912	c.806C>T	c.(805-807)tCa>tTa	p.S269L	MYH11_ENST00000300036.5_Missense_Mutation_p.S269L|MYH11_ENST00000576790.1_Missense_Mutation_p.S269L|MYH11_ENST00000396324.3_Missense_Mutation_p.S276L|MYH11_ENST00000452625.2_Missense_Mutation_p.S276L	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	269	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AATTGCCCGTGATTTTTCTAG	0.493000			T	CBFB	AML								139	265					0	0	0.000781405	0	0
SPATS1	221409	broad.mit.edu	37	6	44320496	44320496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:44320496G>A	ENST00000288390.2	+	2	520	c.173G>A	c.(172-174)gGa>gAa	p.G58E	SPATS1_ENST00000323108.8_Missense_Mutation_p.G58E			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	58										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAATCTAAGGGATGTTTTGCC	0.433000													70	102					0	0	0.000781405	0	0
LY75	4065	broad.mit.edu	37	2	160706970	160706970	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:160706970T>C	ENST00000263636.4	-	22	2919	c.2892A>G	c.(2890-2892)ctA>ctG	p.L964L	LY75_ENST00000554112.1_Silent_p.L964L|LY75_ENST00000553424.1_Silent_p.L964L|LY75-CD302_ENST00000504764.1_Silent_p.L964L|LY75-CD302_ENST00000505052.1_Silent_p.L964L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTTTGATCTTTAGAAAACACT	0.433000													12	23					0	0	0.000151284	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622000													12	829					0	0	0.000566183	0	0
PCSK5	5125	broad.mit.edu	37	9	78803528	78803528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:78803528G>A	ENST00000545128.1	+	18	2855	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PCSK5_ENST00000376752.4_Missense_Mutation_p.D773N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	773	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCCTGTGAAGATGGACGGTA	0.532000													17	16					0	0	0.000132079	0	0
TNN	63923	broad.mit.edu	37	1	175087881	175087881	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:175087881G>A	ENST00000239462.4	+	11	2684	c.2571G>A	c.(2569-2571)ccG>ccA	p.P857P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	857	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTGAGGCCGGGCATGGAGT	0.587000													155	118					0	0	0.000781405	0	0
CHST6	4166	broad.mit.edu	37	16	75512732	75512732	+	Missense_Mutation	SNP	G	G	A	rs144301922		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:75512732G>A	ENST00000332272.4	-	3	1174	c.995C>T	c.(994-996)gCc>gTc	p.A332V	CHST6_ENST00000390664.2_Missense_Mutation_p.A332V|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	332					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGGCGCCAGGCCTGGGAGAC	0.642000													273	395					0	0	0.000781405	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890670	23890670	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:23890670C>T	ENST00000532292.1	-	1	505	c.411G>A	c.(409-411)aaG>aaA	p.K137K		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCCTGCGCTCCTTCGAGGAGG	0.592000													168	192					0	0	0.000781405	0	0
MIR320A	407037	broad.mit.edu	37	8	22102546	22102546	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:22102546G>A	ENST00000385302.1	-	0	10					NR_029714.1																						GAAGGCGGAGGGGAGCGAAGC	0.652000													268	461					0	0	0.000781405	0	0
CASKIN1	57524	broad.mit.edu	37	16	2234978	2234978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2234978G>A	ENST00000343516.6	-	13	1390	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	CASKIN1_ENST00000564289.1_5'UTR	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	433	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGGCTTGGCGGGGCTGTCCCC	0.662000													294	422					0	0	0.000781405	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444322	84444322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:84444322G>A	ENST00000416219.2	+	6	555	c.466G>A	c.(466-468)Gag>Aag	p.E156K	ATP2C2_ENST00000262429.4_Missense_Mutation_p.E156K|ATP2C2_ENST00000420010.2_Intron			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	156					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTACAGGTCGGAGAAATCTCT	0.542000													107	166					0	0	0.000781405	0	0
SPTB	6710	broad.mit.edu	37	14	65262071	65262071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:65262071C>T	ENST00000389722.3	-	11	1681	c.1628G>A	c.(1627-1629)tGg>tAg	p.W543*	SPTB_ENST00000542895.1_Nonsense_Mutation_p.W543*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.W543*|SPTB_ENST00000556626.1_Nonsense_Mutation_p.W543*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.W543*	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	543					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCATCCATCCAGTCGATGCT	0.632000													80	122					0	0	0.000781405	0	0
NBEA	26960	broad.mit.edu	37	13	35630155	35630155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:35630155G>A	ENST00000540320.1	+	7	1515	c.981G>A	c.(979-981)atG>atA	p.M327I	NBEA_ENST00000310336.4_Missense_Mutation_p.M327I|NBEA_ENST00000379939.2_Missense_Mutation_p.M327I|NBEA_ENST00000400445.3_Missense_Mutation_p.M327I			Q8NFP9	NBEA_HUMAN	neurobeachin	327						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		aGTGGTACATGATCAGCATTG	0.313000													4	23					0	0	0.00024832	0	0
PBRM1	55193	broad.mit.edu	37	3	52620639	52620639	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52620639A>T	ENST00000356770.4	-	19	3095	c.3093T>A	c.(3091-3093)taT>taA	p.Y1031*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y1063*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y1038*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y1038*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Y1063*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y1078*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y1063*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y1078*			Q86U86	PB1_HUMAN	polybromo 1	1063	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTGGCAGAATACCGTGATT	0.458000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								58	82					0	0	0.000781405	0	0
FOXP4	116113	broad.mit.edu	37	6	41565545	41565545	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41565545C>T	ENST00000373060.1	+	16	2210	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	FOXP4_ENST00000373063.3_Silent_p.P571P|FOXP4_ENST00000373057.3_Silent_p.P582P|FOXP4_ENST00000307972.4_Silent_p.P584P|FOXP4_ENST00000409208.1_Silent_p.P572P	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	584					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCAGCTTCCCCCTCCTCAACA	0.687000											OREG0004068	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	62	110					0	0	0.000781405	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373394	86373394	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:86373394C>T	ENST00000604798.1	-	8	2314	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	MGAT4C_ENST00000552808.2_Silent_p.G370G|MGAT4C_ENST00000549405.2_Silent_p.G370G|MGAT4C_ENST00000548651.1_Silent_p.G370G|MGAT4C_ENST00000332156.1_Silent_p.G370G|MGAT4C_ENST00000393205.2_Silent_p.G399G			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	370					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGGTGGTTTCCCCCAAAAGT	0.353000													11	28					0	0	0.000673444	0	0
SRCAP	10847	broad.mit.edu	37	16	30749203	30749203	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30749203C>T	ENST00000262518.4	+	34	8227	c.7842C>T	c.(7840-7842)ggC>ggT	p.G2614G	SRCAP_ENST00000344771.4_Silent_p.G2456G|SRCAP_ENST00000395059.2_Silent_p.G2552G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2614	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGAGGCTGGCAGCATCCCCA	0.572000													284	445					0	0	0.000781405	0	0
OR51A2	401667	broad.mit.edu	37	11	4976213	4976213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4976213G>A	ENST00000380371.1	-	1	730	c.731C>T	c.(730-732)tCa>tTa	p.S244L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.478000													35	192					0	0	0.000814825	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476894	77476894	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:77476894A>C	ENST00000296043.6	+	2	1254	c.301A>C	c.(301-303)Acc>Ccc	p.T101P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	101	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATCCTACAAGACCCTCAGGCT	0.587000													53	48					0	0	0.000781405	0	0
MLLT6	4302	broad.mit.edu	37	17	36876005	36876005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:36876005C>T	ENST00000325718.7	+	14	2103	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	671					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCGCAGGTCCCCCATCAGC	0.682000			T	MLL	AL								126	215					0	0	0.000781405	0	0
OR4C15	81309	broad.mit.edu	37	11	55322224	55322224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55322224G>A	ENST00000314644.2	+	1	442	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CATCTCTTTTGAAGGCTGCAT	0.483000										HNSCC(20;0.049)			12	48					0	0	0.000219431	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240729	39240729	+	Missense_Mutation	SNP	A	A	G	rs148949542	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:39240729A>G	ENST00000391417.4	+	1	271	c.271A>G	c.(271-273)Atg>Gtg	p.M91V		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgtatgtccagctg	0.677000													5	314					0	0	0.000184323	0	0
IER5	51278	broad.mit.edu	37	1	181058213	181058213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:181058213G>A	ENST00000367577.4	+	1	576	c.175G>A	c.(175-177)Ggt>Agt	p.G59S		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	59										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CTACCTGGCCGGTCCCGCTGG	0.776000													36	66					0	0	0.00058488	0	0
RGS22	26166	broad.mit.edu	37	8	101018276	101018276	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:101018276A>G	ENST00000360863.6	-	16	2617	c.2423T>C	c.(2422-2424)tTg>tCg	p.L808S	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L796S|RGS22_ENST00000523287.1_Missense_Mutation_p.L627S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	808					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTCTTTATGCAAAGCCTGTAG	0.383000													19	26					0	0	0.000295444	0	0
TGM6	343641	broad.mit.edu	37	20	2411208	2411208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2411208G>A	ENST00000202625.2	+	11	1856	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	TGM6_ENST00000381423.1_Missense_Mutation_p.E599K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	599					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTCTGGTGGAGAAGGACAT	0.493000													39	65					0	0	0.000509022	0	0
OR51B5	282763	broad.mit.edu	37	11	5364578	5364578	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5364578G>A	ENST00000300773.2	-	1	231	c.177C>T	c.(175-177)ttC>ttT	p.F59F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCAGAAAGAAGTACATGG	0.507000													14	16					0	0	0.000219431	0	0
AP3B2	8120	broad.mit.edu	37	15	83349745	83349745	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:83349745G>A	ENST00000261722.3	-	7	822	c.615C>T	c.(613-615)gcC>gcT	p.A205A	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.A205A|AP3B2_ENST00000535348.1_Silent_p.A173A	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	205					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCCTCAAAGGCCATCACCA	0.612000													132	336					0	0	0.000781405	0	0
CCDC153	283152	broad.mit.edu	37	11	119061483	119061483	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:119061483T>C	ENST00000503566.2	-	5	415	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	CCDC153_ENST00000415318.1_Missense_Mutation_p.Q139R			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	139										lung(3)|stomach(1)	4						AGCCAGGGCCTGGTCCCGCTC	0.612000													6	451					0	0	3.59834e-05	0	0
NF1	4763	broad.mit.edu	37	17	29685550	29685550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:29685550C>T	ENST00000358273.4	+	55	8406	c.8023C>T	c.(8023-8025)Cca>Tca	p.P2675S	NF1_ENST00000356175.3_Missense_Mutation_p.P2654S|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.P468S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2675					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGCCAAGATCCAAATTTGTT	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	59					0	0	0.000229342	0	0
PTPRN	5798	broad.mit.edu	37	2	220166329	220166329	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220166329C>T	ENST00000295718.2	-	7	1347	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	PTPRN_ENST00000409251.3_Silent_p.K369K|PTPRN_ENST00000423636.2_Silent_p.K279K|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	369					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TTCCTGCACCCTTGGGCAGTA	0.627000													381	569					0	0	0.000781405	0	0
CEP128	145508	broad.mit.edu	37	14	81227856	81227856	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:81227856G>A	ENST00000555265.1	-	17	2853	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S	CEP128_ENST00000281129.3_Silent_p.S826S			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	826						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CACCAAGAATGGATTCCTGTT	0.393000													125	217					0	0	0.000781405	0	0
DNAAF1	123872	broad.mit.edu	37	16	84209740	84209740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:84209740G>A	ENST00000378553.5	+	11	2024	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	634					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GAGGGACTTGGAAATCCGAAA	0.517000													109	136					0	0	0.000781405	0	0
PPP2R4	5524	broad.mit.edu	37	9	131885396	131885396	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:131885396C>T	ENST00000337738.1	+	3	462	c.195C>T	c.(193-195)acC>acT	p.T65T	PPP2R4_ENST00000393370.2_Silent_p.T65T|PPP2R4_ENST00000348141.5_Silent_p.T71T|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000355007.3_Silent_p.T65T|PPP2R4_ENST00000358994.4_Silent_p.T65T|PPP2R4_ENST00000452489.2_Silent_p.T65T|PPP2R4_ENST00000357197.4_Intron	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	65					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGAAGCTGACCTTCGAGTACA	0.547000													299	174					0	0	0.000781405	0	0
TRIM27	5987	broad.mit.edu	37	6	28887960	28887960	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:28887960G>A	ENST00000377199.3	-	3	932	c.576C>T	c.(574-576)tcC>tcT	p.S192S	TRIM27_ENST00000377194.3_Silent_p.S192S|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	192					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GCTCCTTTAAGGAGTGATACA	0.502000			T	RET	papillary thyroid								456	737					0	0	0.000781405	0	0
COL7A1	1294	broad.mit.edu	37	3	48612535	48612535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:48612535G>A	ENST00000328333.8	-	75	6348	c.6241C>T	c.(6241-6243)Cct>Tct	p.P2081S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2049S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2081	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)		GGGGTTCCAGGGAGTCCAGGA	0.647000													302	411					0	0	0.000781405	0	0
SMARCA4	6597	broad.mit.edu	37	19	11118581	11118581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11118581G>A	ENST00000358026.2	+	14	2289	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	SMARCA4_ENST00000450717.3_Missense_Mutation_p.E669K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E669K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E669K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E669K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E669K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E669K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E669K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E669K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	669	Poly-Glu.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGGTAGGAGGAGGAGGAAGA	0.582000			"""F, N, Mis"""		NSCLC								96	194					0	0	0.000781405	0	0
KCNA2	3737	broad.mit.edu	37	1	111146754	111146754	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:111146754G>A	ENST00000485317.1	-	3	1324	c.651C>T	c.(649-651)tcC>tcT	p.S217S	KCNA2_ENST00000316361.4_Silent_p.S217S|KCNA2_ENST00000369770.3_Silent_p.S217S|KCNA2_ENST00000440270.1_Silent_p.S217S|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	217						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGTCTGTGAAGGAAGTGGACT	0.502000													232	400					0	0	0.000781405	0	0
ZHX3	23051	broad.mit.edu	37	20	39831811	39831811	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:39831811G>A	ENST00000309060.3	-	4	2161	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	ZHX3_ENST00000540170.1_Silent_p.V582V|ZHX3_ENST00000560361.1_Silent_p.V582V|ZHX3_ENST00000559234.1_Silent_p.V582V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.V582V|ZHX3_ENST00000432768.2_Silent_p.V582V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	582					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTACCTCAGGGACCTTGGACG	0.532000													114	194					0	0	0.000781405	0	0
CLCN1	1180	broad.mit.edu	37	7	143047569	143047569	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:143047569G>A	ENST00000343257.2	+	21	2595	c.2508_splice	c.e21+1	p.K836_splice		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	836	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCTGCACAAGGTGAGTCTTT	0.567000													166	295					0	0	0.000781405	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495027	96495027	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:96495027G>A	ENST00000285979.6	+	9	1498	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	CYP2C18_ENST00000339022.5_Silent_p.R374R|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CAGGAAAACGGATGTGTATGG	0.403000													11	16					0	0	0.000673444	0	0
ANO1	55107	broad.mit.edu	37	11	70003090	70003090	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:70003090C>G	ENST00000355303.5	+	16	1846	c.1541C>G	c.(1540-1542)cCa>cGa	p.P514R	ANO1_ENST00000531349.1_Missense_Mutation_p.P223R|ANO1_ENST00000530676.1_Missense_Mutation_p.P368R|ANO1_ENST00000538023.1_Missense_Mutation_p.P514R|ANO1_ENST00000398543.2_Missense_Mutation_p.P368R|ANO1_ENST00000316296.5_Missense_Mutation_p.P456R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	514					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GATCGGTTCCCAGCCTACCTC	0.488000													4	188					0	0	3.59834e-05	0	0
VEGFB	7423	broad.mit.edu	37	11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64005040A>C	ENST00000309422.2	+	6	855	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706000													16	73					0	0	0.000781405	0	0
DNAH17	8632	broad.mit.edu	37	17	76499039	76499039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:76499039C>T	ENST00000389840.5	-	32	5123	c.4999G>A	c.(4999-5001)Gaa>Aaa	p.E1667K	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E1668K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGGGATTTCGTGCCGGAGG	0.647000													134	186					0	0	0.000781405	0	0
LPIN1	23175	broad.mit.edu	37	2	11922502	11922502	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:11922502T>A	ENST00000256720.2	+	7	1118	c.1025T>A	c.(1024-1026)tTt>tAt	p.F342Y	LPIN1_ENST00000396098.1_Missense_Mutation_p.F384Y|LPIN1_ENST00000449576.2_Missense_Mutation_p.F427Y|LPIN1_ENST00000425416.2_Missense_Mutation_p.F348Y|LPIN1_ENST00000396099.1_Missense_Mutation_p.F384Y|LPIN1_ENST00000396097.1_Missense_Mutation_p.F72Y	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	342					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAAATGCAGTTTGTGAATGAA	0.527000													260	331					0	0	0.000781405	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238388	21238388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:21238388G>A	ENST00000326783.3	+	2	177	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	27					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ACAGAGCAAAGAAGTTTCTTG	0.468000													50	67					0	0	0.000781405	0	0
ZNF627	199692	broad.mit.edu	37	19	11728690	11728690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11728690C>T	ENST00000361113.5	+	4	1580	c.1372C>T	c.(1372-1374)Cca>Tca	p.P458S	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTCAGTTGTCCCAGTTCTTTC	0.418000													67	141					0	0	0.000781405	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386214	56386214	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:56386214G>A	ENST00000355701.3	-	22	5289	c.4419C>T	c.(4417-4419)tcC>tcT	p.S1473S	BZRAP1_ENST00000343736.4_Silent_p.S1473S|BZRAP1_ENST00000268893.6_Silent_p.S1413S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1473						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)					AGCACCTCCGGGAAGGGCCCA	0.662000													208	262					0	0	0.000781405	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965684	102965684	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:102965684G>A	ENST00000233954.1	+	10	1534	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	421	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GCATTTATGGGAGAGATATGC	0.418000													98	150					0	0	0.000781405	0	0
TEAD2	8463	broad.mit.edu	37	19	49850485	49850485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49850485G>A	ENST00000377214.4	-	8	1242	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	TEAD2_ENST00000598810.1_Missense_Mutation_p.R295C|TEAD2_ENST00000593945.1_Missense_Mutation_p.R295C|TEAD2_ENST00000311227.2_Missense_Mutation_p.R291C|TEAD2_ENST00000539846.1_Missense_Mutation_p.R163C|TEAD2_ENST00000601519.1_Missense_Mutation_p.R294C			Q15562	TEAD2_HUMAN	TEA domain family member 2	291	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGGGGGCCACGATCATATAGC	0.577000													819	1326					0	0	0.000781405	0	0
TMEM198	130612	broad.mit.edu	37	2	220412290	220412290	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220412290T>G	ENST00000344458.2	+	4	814	c.229T>G	c.(229-231)Ttc>Gtc	p.F77V	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.F77V			Q66K66	TM198_HUMAN	transmembrane protein 198	77	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTGGTCATCTTCCTCCTCTG	0.632000											OREG0003985	type=REGULATORY REGION|Gene=AK123175|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	728	1735					0	0	0.000781405	0	0
TMEFF2	23671	broad.mit.edu	37	2	192815178	192815178	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:192815178C>T	ENST00000392314.1	-	10	1432	c.1041G>A	c.(1039-1041)taG>taA	p.*347*	TMEFF2_ENST00000272771.5_Intron|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	0						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ATGCTATTACCTAAAGTTTGG	0.348000													47	58					0	0	0.000781405	0	0
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:48413860G>A	ENST00000249598.1	-	2	1167	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	336					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607000													139	311					0	0	0.000781405	0	0
NNT	23530	broad.mit.edu	37	5	43619149	43619149	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:43619149C>T	ENST00000264663.5	+	5	836	c.615C>T	c.(613-615)gtC>gtT	p.V205V	NNT_ENST00000512996.2_Silent_p.V74V|NNT_ENST00000344920.4_Silent_p.V205V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	205					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AGGCTGTTGTCCTAGCAGCAA	0.313000													23	102					0	0	0.000295444	0	0
ROBO2	6092	broad.mit.edu	37	3	75986736	75986736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:75986736G>A	ENST00000487694.3	+	2	371	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGTCATCAGGGGAATGGACAA	0.448000													5	126					0	0	3.59834e-05	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914405	147914405	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:147914405G>A	ENST00000361727.3	+	19	3552	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G	CNTNAP2_ENST00000538075.1_Silent_p.G71G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1012					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGAAGAAGGGATGTGGCTAC	0.488000										HNSCC(39;0.1)			44	90					0	0	0.000437636	0	0
ACAN	176	broad.mit.edu	37	15	89381943	89381943	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:89381943G>A	ENST00000439576.2	+	3	494	c.120G>A	c.(118-120)agG>agA	p.R40R	ACAN_ENST00000352105.7_Silent_p.R40R|ACAN_ENST00000558207.1_Silent_p.R40R|ACAN_ENST00000561243.1_Silent_p.R40R|ACAN_ENST00000559004.1_Silent_p.R40R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	40					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCCGCTGAGGGTCCTCCTGG	0.607000													255	476					0	0	0.000781405	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43817695	43817695	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:43817695C>T	ENST00000553158.1	-	29	4316	c.4317G>A	c.(4315-4317)agG>agA	p.R1439R	ADAMTS20_ENST00000395541.2_Silent_p.R557R|ADAMTS20_ENST00000389420.3_Intron			P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	0	TSP type-1 11.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGATGATGGTCCTTTGAGGCA	0.323000													3	8					0	0	6.4e-05	0	0
LRP1	4035	broad.mit.edu	37	12	57548035	57548035	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:57548035T>G	ENST00000243077.3	+	7	1352	c.886T>G	c.(886-888)Ttt>Gtt	p.F296V	LRP1_ENST00000554174.1_Missense_Mutation_p.F296V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	296					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAACTTCTACTTTGTGGATGA	0.512000													135	529					0	0	0.000781405	0	0
FAM129A	116496	broad.mit.edu	37	1	184801032	184801032	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:184801032C>T	ENST00000367511.3	-	6	859	c.666G>A	c.(664-666)caG>caA	p.Q222Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	222					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GACCCTTCTCCTGTCGGAAGA	0.408000													40	107					0	0	0.000781405	0	0
MYO7B	4648	broad.mit.edu	37	2	128381890	128381890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:128381890G>A	ENST00000389524.4	+	29	4017	c.3964G>A	c.(3964-3966)Gag>Aag	p.E1322K	MYO7B_ENST00000409816.2_Missense_Mutation_p.E1322K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1322K|MYO7B_ENST00000409090.1_Missense_Mutation_p.E175K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1322	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTACAGCTTCGAGAAGGTGAG	0.592000													30	41					0	0	0.000279167	0	0
CTAGE9	643854	broad.mit.edu	37	6	132029987	132029987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:132029987G>A	ENST00000314099.8	-	1	2219	c.2171C>T	c.(2170-2172)cCt>cTt	p.P724L	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	724	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						TCCTGGAGGAGGTGGGGGGAA	0.512000													293	338					0	0	0.000781405	0	0
RBM26	64062	broad.mit.edu	37	13	79911254	79911254	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:79911254G>T	ENST00000438737.2	-	19	3156	c.2716C>A	c.(2716-2718)Ctt>Att	p.L906I	RBM26_ENST00000438724.1_Missense_Mutation_p.L882I|RBM26_ENST00000267229.7_Missense_Mutation_p.L879I			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	906	RRM 2.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TGAGGAAGAAGATCTTCTCTA	0.463000													28	61					7.26314e-15	1.0418e-13	0.000184323	1	0
RTP3	83597	broad.mit.edu	37	3	46541994	46541994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46541994G>A	ENST00000296142.3	+	2	876	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	102					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ACCTCTGTTTGAGGACCCTGA	0.468000													417	579					0	0	0.000781405	0	0
FARP2	9855	broad.mit.edu	37	2	242430592	242430592	+	Missense_Mutation	SNP	C	C	A	rs147732224		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:242430592C>A	ENST00000264042.3	+	23	2791	c.2621C>A	c.(2620-2622)cCc>cAc	p.P874H		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	874					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACTCGTCCCCCCAGTGAGTGC	0.597000													15	960					2.31682e-05	0.000328405	0.000308642	1	0
NFE2L1	4779	broad.mit.edu	37	17	46135824	46135824	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:46135824C>T	ENST00000362042.3	+	6	1756	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	NFE2L1_ENST00000357480.5_Silent_p.P350P|NFE2L1_ENST00000361665.3_Silent_p.P369P|NFE2L1_ENST00000536222.1_Silent_p.P224P|NFE2L1_ENST00000582155.1_Silent_p.P192P|NFE2L1_ENST00000585291.1_Silent_p.P350P|NFE2L1_ENST00000583378.1_Silent_p.P181P	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	380					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCAGCCCCGAGGTGGAAA	0.607000													350	540					0	0	0.000781405	0	0
COMT	1312	broad.mit.edu	37	22	19951785	19951785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:19951785G>A	ENST00000361682.6	+	5	960	c.578G>A	c.(577-579)tGg>tAg	p.W193*	COMT_ENST00000449653.1_Nonsense_Mutation_p.W143*|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000403710.1_Nonsense_Mutation_p.W193*|COMT_ENST00000403184.1_Nonsense_Mutation_p.W193*|COMT_ENST00000407537.1_Nonsense_Mutation_p.W143*|COMT_ENST00000406520.3_Nonsense_Mutation_p.W193*	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	193					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CTCGACCACTGGAAGGACCGG	0.587000													249	395					0	0	0.000781405	0	0
PDE7B	27115	broad.mit.edu	37	6	136502373	136502373	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:136502373G>A	ENST00000308191.6	+	11	1260	c.957G>A	c.(955-957)ttG>ttA	p.L319L	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	319	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AGATCGCCTTGAAGTGTGCTG	0.463000													183	116					0	0	0.000781405	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353822	45353822	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:45353822C>T	ENST00000359271.2	+	2	397	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	49						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGCAGGAGTTCCTGGTGGGCA	0.592000													216	382					0	0	0.000781405	0	0
FAN1	22909	broad.mit.edu	37	15	31220836	31220836	+	Missense_Mutation	SNP	G	G	A	rs139319999		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:31220836G>A	ENST00000362065.4	+	11	2860	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	857					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGGGATTCCGGATGTCTTCAG	0.577000								Direct reversal of damage					298	524					0	0	0.000781405	0	0
CASC3	22794	broad.mit.edu	37	17	38325687	38325687	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38325687C>T	ENST00000264645.7	+	12	2302	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	692	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCATCAAGCCCCCTCCACCTG	0.562000													232	313					0	0	0.000781405	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307002	39307002	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:39307002C>T	ENST00000541347.1	-	2	1238	c.999G>A	c.(997-999)agG>agA	p.R333R	CX3CR1_ENST00000358309.3_Silent_p.R365R|CX3CR1_ENST00000542107.1_Silent_p.R333R|CX3CR1_ENST00000399220.2_Silent_p.R333R	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	333					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CACTTCCATGCCTGCTCCTTT	0.483000													106	190					0	0	0.000781405	0	0
SOHLH2	54937	broad.mit.edu	37	13	36764133	36764133	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:36764133C>T	ENST00000379881.3	-	6	679	c.591G>A	c.(589-591)gaG>gaA	p.E197E	SOHLH2_ENST00000554962.1_Silent_p.E274E|SOHLH2_ENST00000317764.6_Silent_p.E197E|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.E274E	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTTTGTTTTTCTCGAACTCTG	0.333000													25	47					0	0	0.000227799	0	0
IL17RA	23765	broad.mit.edu	37	22	17578741	17578741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:17578741C>T	ENST00000319363.6	+	3	351	c.218C>T	c.(217-219)cCa>cTa	p.P73L	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	73					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCTCCTCCCCAAAGGACCTG	0.572000													139	240					0	0	0.000781405	0	0
HRG	3273	broad.mit.edu	37	3	186392940	186392940	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:186392940G>A	ENST00000232003.4	+	6	782	c.702G>A	c.(700-702)ccG>ccA	p.P234P		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	234	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGGAAAGCCCGAAAAACCTTG	0.448000													68	143					0	0	0.000781405	0	0
CUX1	1523	broad.mit.edu	37	7	101918603	101918603	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:101918603C>T	ENST00000437600.4	+	17	1882	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F	CUX1_ENST00000547394.2_Silent_p.F496F|CUX1_ENST00000393824.3_Silent_p.F473F|CUX1_ENST00000292538.4_Silent_p.F512F|CUX1_ENST00000425244.2_Silent_p.F466F|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	324					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGGAGCGCTTCCGTGCCCGGA	0.612000													190	287					0	0	0.000781405	0	0
MAGI1	9223	broad.mit.edu	37	3	65479187	65479187	+	Splice_Site	SNP	C	C	T	rs139843075		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:65479187C>T	ENST00000330909.8	-	3	549	c.550_splice	c.e3+1	p.G184_splice	MAGI1_ENST00000483466.1_Splice_Site_p.G184_splice|MAGI1_ENST00000497477.2_Splice_Site_p.G184_splice|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Splice_Site_p.G184_splice	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	184	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGTAACTCACCTTCATAGGTG	0.488000													18	39					0	0	0.00074312	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817382	26817382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:26817382G>A	ENST00000444914.3	+	3	709	c.289G>A	c.(289-291)Gga>Aga	p.G97R	SLC13A2_ENST00000537681.1_Missense_Mutation_p.G5E|SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000545060.1_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGTCTGTGGGAATGTCAGT	0.522000													203	301					0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117696935	117696935	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:117696935C>T	ENST00000317775.6	-	15	3053	c.2367_splice	c.e15-1	p.V790_splice	NOS1_ENST00000338101.4_Splice_Site_p.V790_splice|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	790	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGGACATCACCTAGGTGGGC	0.522000													41	44					0	0	0.000374591	0	0
PLCH1	23007	broad.mit.edu	37	3	155267630	155267630	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:155267630C>T	ENST00000460012.1	-	10	1575	c.1218G>A	c.(1216-1218)ggG>ggA	p.G406G	PLCH1_ENST00000494598.1_Silent_p.G424G|PLCH1_ENST00000334686.6_Silent_p.G406G|PLCH1_ENST00000414191.1_Silent_p.G406G|PLCH1_ENST00000340059.7_Silent_p.G424G|PLCH1_ENST00000447496.2_Silent_p.G424G			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	424	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTTGCACTCCCCTGTATCAA	0.408000													27	56					0	0	0.000720815	0	0
CADM2	253559	broad.mit.edu	37	3	85984961	85984961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:85984961G>A	ENST00000383699.3	+	7	1372	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CADM2_ENST00000407528.2_Missense_Mutation_p.E240K|CADM2_ENST00000405615.2_Missense_Mutation_p.E242K	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	240	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTTTCCACAAGAAGGACAGCC	0.294000													11	24					0	0	0.00010058	0	0
MYO5B	4645	broad.mit.edu	37	18	47432962	47432962	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:47432962G>A	ENST00000285039.7	-	19	2540	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	747	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGCTCGAAAGAAGATCTTGG	0.557000													59	89					0	0	0.000781405	0	0
MPP2	4355	broad.mit.edu	37	17	41955296	41955296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:41955296C>T	ENST00000269095.4	-	13	1842	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E	MPP2_ENST00000536246.1_Missense_Mutation_p.G502E|MPP2_ENST00000518766.1_Missense_Mutation_p.G558E|MPP2_ENST00000520305.1_Missense_Mutation_p.G374E|MPP2_ENST00000377184.3_Missense_Mutation_p.G530E|MPP2_ENST00000523501.1_Missense_Mutation_p.G502E|MPP2_ENST00000461854.1_Missense_Mutation_p.G537E	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	537	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AAAGTAGTGCCCGTAGCCCCG	0.627000													145	273					0	0	0.000781405	0	0
GRIA1	2890	broad.mit.edu	37	5	153054110	153054110	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:153054110G>A	ENST00000285900.5	+	6	1093	c.750G>A	c.(748-750)gtG>gtA	p.V250V	GRIA1_ENST00000448073.4_Silent_p.V260V|GRIA1_ENST00000518783.1_Silent_p.V260V|GRIA1_ENST00000340592.5_Silent_p.V250V|GRIA1_ENST00000518142.1_Silent_p.V170V|GRIA1_ENST00000521843.2_Silent_p.V181V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	250					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)	GCGCCAATGTGACAGGTTTCC	0.502000													55	32					0	0	0.000781405	0	0
NFE2	4778	broad.mit.edu	37	12	54686416	54686416	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:54686416C>T	ENST00000540264.2	-	2	1373	c.864G>A	c.(862-864)ctG>ctA	p.L288L	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.L288L|NFE2_ENST00000553070.1_Silent_p.L288L|NFE2_ENST00000312156.4_Silent_p.L288L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	288					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CAATGGTTTCCAGCTTCCTCT	0.642000													121	82					0	0	0.000781405	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520539	33520539	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:33520539G>T	ENST00000297307.5	-	1	873	c.788C>A	c.(787-789)gCc>gAc	p.A263D		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	263						integral to membrane											GGAGACCAAGGCGAGGATCCC	0.627000													10	1152					5.9392e-07	8.47039e-06	3.59834e-05	1	0
PRRG3	79057	broad.mit.edu	37	X	150869277	150869277	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:150869277G>A	ENST00000370353.3	+	4	858	c.468G>A	c.(466-468)caG>caA	p.Q156Q	PRRG3_ENST00000538575.1_Silent_p.Q156Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	156						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCCCCCAGGTGGTGCTGG	0.682000													109	58					0	0	0.000781405	0	0
C14orf79	122616	broad.mit.edu	37	14	105455377	105455377	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105455377A>T	ENST00000547315.1	+	2	1160	c.521A>T	c.(520-522)gAa>gTa	p.E174V	C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	174										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			CATTTCCTAGAAATAAGCAGT	0.378000													221	350					0	0	0.000781405	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532128	16532128	+	Missense_Mutation	SNP	G	G	A	rs142369162		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16532128G>A	ENST00000270747.3	-	9	1622	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	496	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCAGGCGAGCCAGGATG	0.597000													81	164					0	0	0.000781405	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773671	35773671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:35773671C>T	ENST00000360215.1	+	1	601	c.224C>T	c.(223-225)tCc>tTc	p.S75F	LHFPL5_ENST00000373853.1_Missense_Mutation_p.S75F	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	75						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GTGCTGTCCTCCGAGCTCATC	0.587000													604	976					0	0	0.000781405	0	0
CHUK	1147	broad.mit.edu	37	10	101977836	101977836	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:101977836G>A	ENST00000370397.7	-	9	935	c.849C>T	c.(847-849)gaC>gaT	p.D283D		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	283	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TCTGCTGAGGGTCCCAATTCA	0.368000													75	120					0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10369888	10369888	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:10369888T>C	ENST00000255381.2	-	3	285	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCC	0.463000													5	418					0	0	0.000157383	0	0
DNAH3	55567	broad.mit.edu	37	16	21042367	21042367	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:21042367C>A	ENST00000261383.3	-	37	5438	c.5439_splice	c.e37+1	p.K1813_splice	DNAH3_ENST00000415178.1_Splice_Site_p.K1813_splice	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1813	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATACTTACCTTTTTATTGT	0.338000													25	79					4.7796e-09	6.82858e-08	0.000720815	1	0
PER1	5187	broad.mit.edu	37	17	8049307	8049307	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:8049307G>A	ENST00000317276.4	-	17	2424	c.2187C>T	c.(2185-2187)gtC>gtT	p.V729V	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Silent_p.V713V|PER1_ENST00000581082.1_Silent_p.V709V	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	729	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCCCACATGGACGATGGTGG	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					290	185					0	0	0.000781405	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686405	125686405	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:125686405A>C	ENST00000371126.1	-	1	429	c.187T>G	c.(187-189)Tgg>Ggg	p.W63G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	63										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCGGGGCCCCACCCGCCTACC	0.701000													20	390					0	0	0.000781405	0	0
TRANK1	9881	broad.mit.edu	37	3	36898464	36898464	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:36898464T>G	ENST00000429976.2	-	12	2864	c.2617A>C	c.(2617-2619)Aag>Cag	p.K873Q	TRANK1_ENST00000301807.6_Missense_Mutation_p.K323Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.K323Q			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	873					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCAATGATCTTCTCAGGGTTC	0.527000													12	15					0	0	0.00010058	0	0
GTPBP10	85865	broad.mit.edu	37	7	89982182	89982182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:89982182G>A	ENST00000222511.6	+	2	152	c.86G>A	c.(85-87)gGa>gAa	p.G29E	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29E	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	29					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GGATCCGGTGGAATGGGTTAT	0.393000											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	75	150					0	0	0.000781405	0	0
PRKCB	5579	broad.mit.edu	37	16	24104192	24104192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24104192C>T	ENST00000303531.7	+	6	762	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Missense_Mutation_p.P204S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	204	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GATTCCCGATCCCAAAAGTGA	0.423000													63	99					0	0	0.000781405	0	0
PLA2G3	50487	broad.mit.edu	37	22	31535838	31535838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:31535838G>A	ENST00000215885.3	-	1	755	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	168	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						cagctccgAGGAGTTCCCAGC	0.617000													121	163					0	0	0.000781405	0	0
PCDH20	64881	broad.mit.edu	37	13	61986316	61986316	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:61986316A>G	ENST00000409186.1	-	5	4021	c.1916T>C	c.(1915-1917)tTt>tCt	p.F639S	PCDH20_ENST00000409204.4_Missense_Mutation_p.F639S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	612	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTTGTTGATAAACCGAGGACT	0.458000													250	399					0	0	0.000781405	0	0
MCM2	4171	broad.mit.edu	37	3	127323849	127323849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:127323849G>A	ENST00000265056.7	+	4	767	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	175	Interaction with MYST2 (By similarity).				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|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CGAGAACCTGGAGGATCTCAA	0.667000													198	298					0	0	0.000781405	0	0
NKX6-1	4825	broad.mit.edu	37	4	85416877	85416877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:85416877G>A	ENST00000295886.4	-	2	1012	c.791C>T	c.(790-792)cCc>cTc	p.P264L	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	264	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		AGCCCTCTCGGGCCCCGCCAA	0.547000													219	908					0	0	0.000781405	0	0
IL7	3574	broad.mit.edu	37	8	79710383	79710383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:79710383G>A	ENST00000263851.4	-	2	671	c.71C>T	c.(70-72)tCa>tTa	p.S24L	IL7_ENST00000520269.1_Missense_Mutation_p.S24L|IL7_ENST00000379113.2_Missense_Mutation_p.S24L	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	24					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						ACAATCAGATGATGCTACTGG	0.333000													73	127					0	0	0.000781405	0	0
TNXB	7148	broad.mit.edu	37	6	32041447	32041447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:32041447G>A	ENST00000375244.3	-	12	4859	c.4658C>T	c.(4657-4659)cCc>cTc	p.P1553L	TNXB_ENST00000375247.2_Missense_Mutation_p.P1553L			P22105	TENX_HUMAN	tenascin XB	1640					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACAGACAGGGGGCCCATGCG	0.567000													847	1303					0	0	0.000781405	0	0
INPPL1	3636	broad.mit.edu	37	11	71940600	71940600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:71940600C>T	ENST00000298229.2	+	6	955	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	INPPL1_ENST00000538751.1_Nonsense_Mutation_p.Q9*|INPPL1_ENST00000541756.1_Nonsense_Mutation_p.Q9*	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	251					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTGCAGCAGCAGGTAGATTG	0.577000													261	865					0	0	0.000781405	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171298	150171298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:150171298G>A	ENST00000307271.3	+	4	1455	c.881G>A	c.(880-882)aGa>aAa	p.R294K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	294						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGAAGCTGGAGAAAAAAGAAA	0.468000													57	102					0	0	0.000781405	0	0
BTAF1	9044	broad.mit.edu	37	10	93718859	93718859	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:93718859T>C	ENST00000265990.6	+	9	1246	c.938T>C	c.(937-939)cTt>cCt	p.L313P	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	313					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGGGAAATTCTTAAAGCTCAT	0.358000													61	143					0	0	0.000781405	0	0
RBBP6	5930	broad.mit.edu	37	16	24582320	24582320	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24582320C>T	ENST00000319715.4	+	18	4365	c.3933C>T	c.(3931-3933)atC>atT	p.I1311I	RBBP6_ENST00000381039.3_Silent_p.I471I|RBBP6_ENST00000348022.2_Silent_p.I1277I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1311					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGATGTTATCATTATGATTC	0.363000													138	261					0	0	0.000781405	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519434	137519434	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:137519434A>C	ENST00000367739.4	-	7	1325	c.1204T>G	c.(1204-1206)Tgt>Ggt	p.C402G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.C374G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	402					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTCTCAGAACAATTTCTGGAG	0.418000													36	20					0	0	0.000191422	0	0
ATM	472	broad.mit.edu	37	11	108155011	108155011	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:108155011G>A	ENST00000278616.4	+	26	4189	c.3804G>A	c.(3802-3804)gtG>gtA	p.V1268V	ATM_ENST00000452508.2_Silent_p.V1268V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1268					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)		TTGATGAGGTGAAGTCCATTG	0.308000			"""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)			9	35					0	0	0.000442599	0	0
OR4K5	79317	broad.mit.edu	37	14	20389353	20389353	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20389353A>T	ENST00000315915.4	+	1	613	c.588A>T	c.(586-588)gaA>gaT	p.E196D		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACATCATTGAAATACTAATTG	0.408000													14	91					0	0	0.000151284	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584797	72584797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:72584797G>A	ENST00000375352.1	-	2	312	c.232C>T	c.(232-234)Cga>Tga	p.R78*	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	78	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						ATGGAAACTCGATTCTTCTTT	0.448000													118	216					0	0	0.000781405	0	0
TMEM33	55161	broad.mit.edu	37	4	41946931	41946931	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:41946931T>A	ENST00000504986.1	+	5	883	c.518T>A	c.(517-519)tTt>tAt	p.F173Y	TMEM33_ENST00000513702.1_Missense_Mutation_p.F173Y|TMEM33_ENST00000325094.5_Missense_Mutation_p.F173Y	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	173						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						GCGACAGTTTTTATGCTTTTT	0.328000													38	180					0	0	0.000319135	0	0
PRKCB	5579	broad.mit.edu	37	16	24196444	24196444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24196444C>T	ENST00000303531.7	+	14	1698	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	PRKCB_ENST00000321728.7_Nonsense_Mutation_p.Q516*	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	516	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AATTGCTTATCAGCCCTATGG	0.433000													36	85					0	0	0.000680045	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601935	138601935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:138601935C>T	ENST00000440172.1	-	2	2485	c.2437G>A	c.(2437-2439)Gac>Aac	p.D813N	KIAA1549_ENST00000242365.4_Missense_Mutation_p.D763N|KIAA1549_ENST00000422774.1_Missense_Mutation_p.D813N	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	813						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGATTTGGTCGTCAGGAGGT	0.507000			O	BRAF	pilocytic astrocytoma								28	81					0	0	0.000184323	0	0
OR8B3	390271	broad.mit.edu	37	11	124266729	124266729	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:124266729G>A	ENST00000354597.3	-	1	535	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATGGTTGATGATATTAGCAC	0.483000													56	53					0	0	0.000781405	0	0
OR5L1	219437	broad.mit.edu	37	11	55579712	55579712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55579712C>T	ENST00000333973.2	+	1	859	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACAGTCCTTTCCATTTATTGC	0.512000													36	141					0	0	0.000191422	0	0
VCAN	1462	broad.mit.edu	37	5	82833200	82833200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:82833200G>A	ENST00000265077.3	+	8	4943	c.4378G>A	c.(4378-4380)Gaa>Aaa	p.E1460K	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E473K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1460	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCCAAAACGGAATTGTCTAC	0.423000													11	20					0	0	6.40141e-05	0	0
NLRP14	338323	broad.mit.edu	37	11	7064277	7064277	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:7064277C>T	ENST00000299481.4	+	4	1366	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	340	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGTATATTTACCAGTTTTTTG	0.413000													15	57					0	0	0.000422831	0	0
AQP9	366	broad.mit.edu	37	15	58467154	58467154	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:58467154C>T	ENST00000219919.4	+	4	784	c.414C>T	c.(412-414)atC>atT	p.I138I	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Silent_p.I138I|AQP9_ENST00000558772.1_Silent_p.I73I	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	138					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AACTGCTGATCGTGGGAGAAA	0.458000													26	52					0	0	0.000720815	0	0
KNDC1	85442	broad.mit.edu	37	10	135020665	135020665	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:135020665C>T	ENST00000304613.3	+	20	3625	c.3604C>T	c.(3604-3606)Ctg>Ttg	p.L1202L	KNDC1_ENST00000368572.2_Silent_p.L1204L|KNDC1_ENST00000368571.2_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1202					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACGCTGGGGCCTGGAGCCCTG	0.657000													59	77					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9057986	9057986	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9057986G>A	ENST00000397910.4	-	3	29663	c.29460C>T	c.(29458-29460)tcC>tcT	p.S9820S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9822	Ser-rich.|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						GAACAGAACTGGAGGTCCTCA	0.478000													23	46					0	0	0.00047179	0	0
AXL	558	broad.mit.edu	37	19	41765525	41765525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41765525G>A	ENST00000301178.4	+	20	2591	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	AXL_ENST00000359092.3_Missense_Mutation_p.E792K|AXL_ENST00000593513.1_Missense_Mutation_p.E533K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	801	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGAGCTGCGGGAAGATTTGGA	0.552000													162	314					0	0	0.000781405	0	0
ROS1	6098	broad.mit.edu	37	6	117641174	117641174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:117641174C>T	ENST00000368508.3	-	36	5995	c.5797G>A	c.(5797-5799)Gag>Aag	p.E1933K	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.E1927K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1933					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTTCAATCTCCTCTTGGGTT	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	6					0	0	0.000274275	0	0
GDAP1	54332	broad.mit.edu	37	8	75263640	75263640	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:75263640G>A	ENST00000220822.7	+	2	329	c.249G>A	c.(247-249)ggG>ggA	p.G83G	GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Silent_p.G15G	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	83	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTATCCACGGGGAAAACATAA	0.428000													472	769					0	0	0.000781405	0	0
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs146795524		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512000													8	880					0	0	0.000151284	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778842	14778842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:14778842G>A	ENST00000261170.3	-	21	2393	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	753					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTTTGGTCATGAAAAAGTCTG	0.333000													5	22					0	0	8.12818e-05	0	0
LACTB2	51110	broad.mit.edu	37	8	71556407	71556407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:71556407G>A	ENST00000276590.4	-	4	521	c.485C>T	c.(484-486)tCt>tTt	p.S162F	LACTB2_ENST00000517601.1_5'UTR|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.S162F|RP11-382J12.1_ENST00000518553.1_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	162							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GCAATCTCCAGAAAAGATAGC	0.353000													119	213					0	0	0.000781405	0	0
ZNF33B	7582	broad.mit.edu	37	10	43078542	43078542	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:43078542C>T	ENST00000486187.1	-	0	440							Q06732	ZN33B_HUMAN	zinc finger protein 33B							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AATCCAAGGTCCAGGATCAGT	0.502000													15	32					0	0	0.000308642	0	0
DUSP15	128853	broad.mit.edu	37	20	30436629	30436629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:30436629C>T	ENST00000278979.3	-	9	782	c.706G>A	c.(706-708)Gag>Aag	p.E236K				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	236						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGCTGCTCCTTGGGGTGC	0.607000													97	209					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82585116	82585116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82585116G>A	ENST00000423517.2	-	5	5490	c.5153C>T	c.(5152-5154)tCg>tTg	p.S1718L	PCLO_ENST00000333891.8_Missense_Mutation_p.S1718L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1649					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGCAGACTCGAAGATCCCTC	0.458000													19	29					0	0	0.00074312	0	0
ELTD1	64123	broad.mit.edu	37	1	79385897	79385897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:79385897G>A	ENST00000370742.3	-	10	1495	c.1432C>T	c.(1432-1434)Ctt>Ttt	p.L478F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	478					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATCCCAACAAGAAAAACAAGT	0.328000													5	17					0	0	0.000602214	0	0
SYNE1	23345	broad.mit.edu	37	6	152647134	152647134	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:152647134A>G	ENST00000367255.5	-	80	15998	c.15397T>C	c.(15397-15399)Tcg>Ccg	p.S5133P	SYNE1_ENST00000423061.1_Missense_Mutation_p.S5062P|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5133P|SYNE1_ENST00000448038.1_Missense_Mutation_p.S5062P|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5133					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGACTAGACGAAGTCTTCAAC	0.353000										HNSCC(10;0.0054)			72	61					0	0	0.000781405	0	0
FKBP9	11328	broad.mit.edu	37	7	33035788	33035788	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:33035788C>A	ENST00000242209.4	+	7	1222	c.1053C>A	c.(1051-1053)ggC>ggA	p.G351G	FKBP9_ENST00000490776.2_Silent_p.G119G|FKBP9_ENST00000538443.1_Silent_p.G213G|FKBP9_ENST00000538336.1_Silent_p.G404G|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	351	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			ATATCCCCGGCTCGGCTGTGC	0.557000													6	415					0.000673444	0.00928291	0.000673444	1	0
C2orf78	388960	broad.mit.edu	37	2	74042650	74042650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:74042650G>A	ENST00000409561.1	+	3	1421	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	434										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATTTGAAAATGGGATTGAGTC	0.463000													171	248					0	0	0.000781405	0	0
ERN1	2081	broad.mit.edu	37	17	62144126	62144126	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:62144126G>A	ENST00000433197.2	-	8	842	c.747C>T	c.(745-747)acC>acT	p.T249T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	249					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GATAGCGCAGGGTCTCCACAG	0.572000													31	70					0	0	0.000279167	0	0
SSRP1	6749	broad.mit.edu	37	11	57102026	57102026	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:57102026C>A	ENST00000278412.2	-	3	417	c.151G>T	c.(151-153)Ggt>Tgt	p.G51C		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	51					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CGCCAGATACCTTCTGTTAAC	0.498000													15	1400					0.000219431	0.00307819	0.000219431	1	0
ZNF133	7692	broad.mit.edu	37	20	18295778	18295778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:18295778C>T	ENST00000377671.3	+	7	839	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	ZNF133_ENST00000401790.1_Missense_Mutation_p.P95S|ZNF133_ENST00000402618.2_Missense_Mutation_p.P32S|ZNF133_ENST00000396026.3_Missense_Mutation_p.P98S|ZNF133_ENST00000538547.1_5'UTR|ZNF133_ENST00000535822.1_5'UTR|ZNF133_ENST00000316358.4_Missense_Mutation_p.P95S|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	95						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TCAGAAATTCCCCATGCAGCA	0.552000													96	174					0	0	0.000781405	0	0
OR4A15	81328	broad.mit.edu	37	11	55135452	55135452	+	Missense_Mutation	SNP	G	G	A	rs149233751		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55135452G>A	ENST00000314706.3	+	1	93	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M31I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGAACACATGAAAAATAAGA	0.388000													6	5					0	0	3.59834e-05	0	0
ZNF687	57592	broad.mit.edu	37	1	151260472	151260472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151260472C>T	ENST00000368879.2	+	2	1803	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCGCCCGCCGCCTGGTCTT	0.592000													261	779					0	0	0.000781405	0	0
MYO16	23026	broad.mit.edu	37	13	109318403	109318403	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:109318403C>T	ENST00000356711.2	+	2	258	c.132C>T	c.(130-132)ttC>ttT	p.F44F	MYO16_ENST00000357550.2_Silent_p.F44F|MYO16_ENST00000251041.5_Silent_p.F44F	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	44					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGGAAGGGTTCCTGAAAAGGC	0.502000													12	30					0	0	6.40141e-05	0	0
TCEANC	170082	broad.mit.edu	37	X	13681193	13681193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:13681193C>T	ENST00000380600.1	+	2	653	c.566C>T	c.(565-567)tCc>tTc	p.S189F	TCEANC_ENST00000544987.1_Missense_Mutation_p.S189F|TCEANC_ENST00000545566.1_Missense_Mutation_p.S189F|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000314720.4_Missense_Mutation_p.S219F			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	189	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						ACTAGTTCTTCCACAGATCAA	0.388000													198	65					0	0	0.000781405	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222055	42222055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:42222055G>A	ENST00000221992.6	+	6	1360	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	CEACAM5_ENST00000405816.1_Missense_Mutation_p.D416N|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.D415N	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	416	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGATGGCCCAGACGACCCCAC	0.562000													113	203					0	0	0.000781405	0	0
PHF20L1	51105	broad.mit.edu	37	8	133848864	133848864	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:133848864T>A	ENST00000395386.2	+	16	2288	c.1989T>A	c.(1987-1989)ttT>ttA	p.F663L	PHF20L1_ENST00000220847.7_Missense_Mutation_p.F50L|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F638L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	663							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATCAGGACTTTGATTCAACCA	0.378000													11	28					0	0	6.40141e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34033256	34033256	+	Missense_Mutation	SNP	C	C	T	rs144107939		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34033256C>T	ENST00000373381.4	-	53	8493	c.8317G>A	c.(8317-8319)Ggc>Agc	p.G2773S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2750	Sushi 19.					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)				ACAGACATGCCGATCAGGCGG	0.562000													37	57					0	0	0.000191422	0	0
TMEM161A	54929	broad.mit.edu	37	19	19231604	19231604	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:19231604G>T	ENST00000450333.2	-	9	884	c.847C>A	c.(847-849)Ctc>Atc	p.L283I	TMEM161A_ENST00000587583.2_Missense_Mutation_p.L361I|TMEM161A_ENST00000162044.9_Missense_Mutation_p.L386I	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	386					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		p.L386I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GTGCAGTTGAGGGTGAGGATG	0.602000													14	897					0.000308642	0.00431104	0.000308642	1	0
RDH12	145226	broad.mit.edu	37	14	68191301	68191301	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:68191301T>C	ENST00000551171.1	+	4	504	c.180T>C	c.(178-180)gcT>gcC	p.A60A	RDH12_ENST00000267502.3_Silent_p.A60A|RDH12_ENST00000539142.1_Silent_p.A60A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	60					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GAGAGCTCGCTAGCCGAGGTA	0.557000													97	180					0	0	0.000781405	0	0
FRAS1	80144	broad.mit.edu	37	4	79360140	79360140	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:79360140G>T	ENST00000264895.6	+	40	5891	c.5451G>T	c.(5449-5451)ctG>ctT	p.L1817L	FRAS1_ENST00000325942.6_Silent_p.L1817L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1816					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAACCATCTGGATAATCAGA	0.378000													19	1284					0.000219431	0.00307819	0.000219431	1	0
MINA	84864	broad.mit.edu	37	3	97669650	97669650	+	Missense_Mutation	SNP	T	T	G	rs60134263	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:97669650T>G	ENST00000333396.6	-	6	1450	c.868A>C	c.(868-870)Ata>Cta	p.I290L	MINA_ENST00000360258.4_Missense_Mutation_p.I290L|MINA_ENST00000394198.2_Missense_Mutation_p.I290L	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	290					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TGCCGGGGTATGCCGGTCCGT	0.532000													20	51					0	0	0.000295444	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593893	31593893	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31593893C>A	ENST00000376033.2	+	9	1170	c.936C>A	c.(934-936)ctC>ctA	p.L312L	PRRC2A_ENST00000376007.4_Silent_p.L312L|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	312	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGGATAATCTCAAAGAGTTTG	0.493000													9	610					0.000442599	0.00615569	0.000442599	1	0
CD1D	912	broad.mit.edu	37	1	158152078	158152078	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158152078G>A	ENST00000368171.3	+	4	1084	c.585G>A	c.(583-585)ggG>ggA	p.G195G		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	195	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTGAGTCAGGGAAGTCGGAAC	0.542000													507	1546					0	0	0.000781405	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362047	105362047	+	Silent	SNP	C	C	A	rs148878459		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:105362047C>A	ENST00000369774.4	-	15	3204	c.2928G>T	c.(2926-2928)gcG>gcT	p.A976A	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.A843A|SH3PXD2A_ENST00000355946.2_Silent_p.A948A|SH3PXD2A_ENST00000538130.1_Silent_p.A811A|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	976					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGGCCTGACCGCCACCTGCC	0.657000													162	216					1.7288e-48	2.49513e-47	0.000781405	1	0
MSANTD2	79684	broad.mit.edu	37	11	124637227	124637227	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:124637227C>A	ENST00000526629.1	-	3	2282	c.835G>T	c.(835-837)Ggg>Tgg	p.G279W	MSANTD2_ENST00000374979.3_Missense_Mutation_p.G509W|MSANTD2_ENST00000239614.4_Missense_Mutation_p.G457W			Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	509																	GACAAAAACCCGTTAATACCA	0.438000													9	597					0.000673444	0.00928291	0.000673444	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102293007	102293007	+	RNA	SNP	C	C	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:102293007C>G	ENST00000561463.1	+	0	1053																											CGCGTGGGAACAAGAAGACAC	0.582000													4	37					0	0	0.000151284	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011854	46011854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46011854G>A	ENST00000400368.1	-	1	532	c.512C>T	c.(511-513)tCg>tTg	p.S171L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	171	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CTGGCAGCACGAAGAGGAAAT	0.642000													393	229					0	0	0.000781405	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959676	61959676	+	Silent	SNP	G	G	A	rs140077440		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:61959676G>A	ENST00000306238.3	+	2	273	c.204G>A	c.(202-204)acG>acA	p.T68T		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	68						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						GCGTGGATACGATGGCCTATG	0.438000													46	39					0	0	0.000781405	0	0
ASNSD1	54529	broad.mit.edu	37	2	190530903	190530903	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:190530903C>T	ENST00000260952.4	+	4	458	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	15	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CTGAGCATTTCAGTCAAGATT	0.328000													266	421					0	0	0.000781405	0	0
ALPPL2	251	broad.mit.edu	37	2	233272555	233272555	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:233272555G>A	ENST00000295453.3	+	5	528	c.475_splice	c.e5-1	p.G159_splice		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	159					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCACCCTCAGGAAAGTCAGTG	0.617000													266	434					0	0	0.000781405	0	0
TTC18	118491	broad.mit.edu	37	10	75037955	75037955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:75037955C>T	ENST00000310715.3	-	21	2710	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.E333K|TTC18_ENST00000394865.1_Missense_Mutation_p.E864K|TTC18_ENST00000401621.2_Missense_Mutation_p.E864K|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	864							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GTTGGTATCTCCTTGATAAAT	0.383000													57	96					0	0	0.000781405	0	0
PRPF8	10594	broad.mit.edu	37	17	1563247	1563247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:1563247C>T	ENST00000572621.1	-	30	5099	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1612K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1612						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGATTGTCTCCTTTTGTACT	0.428000													137	87					0	0	0.000781405	0	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTTTGGCTGGGGAGAGGAG	0.473000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			210	115					0	0	0.000781405	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397610	75397610	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:75397610T>C	ENST00000359322.4	-	3	508	c.144A>G	c.(142-144)gaA>gaG	p.E48E		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	48					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCAGCGACAGTTCCTCCAACA	0.493000													535	708					0	0	0.000781405	0	0
PLEC	5339	broad.mit.edu	37	8	144993388	144993388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:144993388G>A	ENST00000322810.4	-	32	11181	c.11012C>T	c.(11011-11013)cCc>cTc	p.P3671L	PLEC_ENST00000354958.2_Missense_Mutation_p.P3512L|PLEC_ENST00000356346.3_Missense_Mutation_p.P3520L|PLEC_ENST00000345136.3_Missense_Mutation_p.P3534L|PLEC_ENST00000398774.2_Missense_Mutation_p.P3502L|PLEC_ENST00000527096.1_Missense_Mutation_p.P3557L|PLEC_ENST00000357649.2_Missense_Mutation_p.P3538L|PLEC_ENST00000436759.2_Missense_Mutation_p.P3561L|PLEC_ENST00000354589.3_Missense_Mutation_p.P3534L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3671	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						GCCCGTCTCGGGGTCCTCCAC	0.622000													377	813					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179595694	179595694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179595694C>T	ENST00000589042.1	-	60	17922	c.17698G>A	c.(17698-17700)Gat>Aat	p.D5900N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4656N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5583N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5583	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCCAACATCATTTTGGACC	0.373000													42	63					0	0	0.000509022	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350699	79350699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:79350699C>T	ENST00000419573.3	-	3	782	c.508G>A	c.(508-510)Gag>Aag	p.E170K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E170K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	170					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGCTCGATCTCGATCTCCCCA	0.607000													133	162					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883733	228883733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:228883733C>T	ENST00000392056.3	-	7	1883	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E613K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	613						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAATGGCTTCCTTGCCAAGC	0.537000													16	20					0	0	0.000308642	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418331	38418331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:38418331G>A	ENST00000322350.5	+	12	2004	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G319E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G553E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	553	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGCCCCTGGGAAAAGCACTC	0.557000													18	12					0	0	0.000295444	0	0
CD163	9332	broad.mit.edu	37	12	7651770	7651770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:7651770C>T	ENST00000359156.4	-	4	674	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	CD163_ENST00000432237.2_Missense_Mutation_p.E158K|CD163_ENST00000541972.1_Missense_Mutation_p.E146K|CD163_ENST00000396620.3_Missense_Mutation_p.E158K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	158					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.E158Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGCCTCATTTCCAAATTGGAT	0.413000													20	69					0	0	0.000229342	0	0
SCEL	8796	broad.mit.edu	37	13	78133981	78133981	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:78133981C>T	ENST00000535157.1	+	4	374	c.204C>T	c.(202-204)tcC>tcT	p.S68S	SCEL_ENST00000377246.3_Silent_p.S68S|SCEL_ENST00000349847.3_Silent_p.S68S	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	68					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GACATAATTCCCATGATGCAT	0.398000													39	110					0	0	0.000374591	0	0
PRPF31	26121	broad.mit.edu	37	19	54634857	54634857	+	Silent	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54634857C>A	ENST00000321030.4	+	14	1843	c.1494C>A	c.(1492-1494)tcC>tcA	p.S498S	PRPF31_ENST00000419967.1_3'UTR|PRPF31_ENST00000391755.1_Silent_p.S492S	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	498					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCTTATGTCCACCTGAATGA	0.562000													8	320					0.000157383	0.00221064	0.000157383	1	0
LRRC34	151827	broad.mit.edu	37	3	169521924	169521924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:169521924C>T	ENST00000522526.2	-	6	1011	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	LRRC34_ENST00000316515.7_Missense_Mutation_p.E179K|LRRC34_ENST00000522830.1_Missense_Mutation_p.E131K|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.E192K			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	179										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCTTTATTTTCAATTTTGTTT	0.303000													84	127					0	0	0.000781405	0	0
OR13A1	79290	broad.mit.edu	37	10	45799539	45799539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:45799539G>A	ENST00000553795.1	-	4	640	c.332C>T	c.(331-333)tCc>tTc	p.S111F	OR13A1_ENST00000536058.1_Missense_Mutation_p.S111F|OR13A1_ENST00000374401.2_Missense_Mutation_p.S111F	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCCCCCGTAGGAGATGGAGCT	0.557000													52	77					0	0	0.000781405	0	0
ATP11C	286410	broad.mit.edu	37	X	138864889	138864889	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:138864889T>A	ENST00000370557.1	-	18	2798		c.e18-2		ATP11C_ENST00000361648.2_Splice_Site|ATP11C_ENST00000359686.2_Splice_Site|ATP11C_ENST00000460773.1_Splice_Site|ATP11C_ENST00000370543.1_Splice_Site|ATP11C_ENST00000327569.3_Splice_Site			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C						ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATACCCATCCTAGGAGTAAAG	0.358000													104	24					0	0	0.000781405	0	0
ABI3BP	25890	broad.mit.edu	37	3	100566478	100566478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:100566478G>A	ENST00000471714.1	-	19	1746	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	ABI3BP_ENST00000284322.5_Missense_Mutation_p.S497F|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S546F			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	497	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGGCTTTTAGAAATTTTAGG	0.383000													30	61					0	0	0.000339439	0	0
GAD2	2572	broad.mit.edu	37	10	26518625	26518625	+	Silent	SNP	C	C	T	rs145045666		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:26518625C>T	ENST00000376261.3	+	7	1262	c.759C>T	c.(757-759)atC>atT	p.I253I	GAD2_ENST00000259271.3_Silent_p.I253I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	253					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.I253I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCATGATGATCGCACGCTTTA	0.428000													47	95					0	0	0.000781405	0	0
PCDH15	65217	broad.mit.edu	37	10	55582777	55582777	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:55582777A>C	ENST00000361849.3	-	34	5109	c.4715T>G	c.(4714-4716)aTt>aGt	p.I1572S	PCDH15_ENST00000395433.1_Missense_Mutation_p.I1547S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1567S|PCDH15_ENST00000320301.6_Missense_Mutation_p.I1570S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1530S|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1501S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1570					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGCCTCTGAATCTTTTCTCT	0.458000										HNSCC(58;0.16)			195	312					0	0	0.000781405	0	0
CEP192	55125	broad.mit.edu	37	18	13049187	13049187	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:13049187C>T	ENST00000506447.1	+	16	2477	c.2397C>T	c.(2395-2397)aaC>aaT	p.N799N	CEP192_ENST00000430049.2_Silent_p.N324N|CEP192_ENST00000325971.8_Silent_p.N203N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	394										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATTGGAAAACTTTTCAAGGG	0.343000													26	38					0	0	0.000720815	0	0
RTDR1	27156	broad.mit.edu	37	22	23406136	23406136	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:23406136G>A	ENST00000216036.4	-	5	793	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	199							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGCGCTGAGGAGCTTCTGCT	0.607000													133	267					0	0	0.000781405	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822465	103822465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:103822465C>T	ENST00000296422.7	-	12	1498	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	453						integral to membrane	solute:hydrogen antiporter activity										CTTGCTGTTTCTAGAGCCAGA	0.418000													15	485					0	0	0.000958276	0	0
CD84	8832	broad.mit.edu	37	1	160535312	160535312	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160535312C>T	ENST00000368054.3	-	2	305	c.270G>A	c.(268-270)ccG>ccA	p.P90P	CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|CD84_ENST00000311224.4_Silent_p.P90P|CD84_ENST00000368051.3_Silent_p.P90P|CD84_ENST00000368048.3_Silent_p.P90P|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	90					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GATTGTAGTTCGGACCTAAGG	0.458000													72	85					0	0	0.000781405	0	0
MYCBP2	23077	broad.mit.edu	37	13	77725060	77725060	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:77725060A>T	ENST00000407578.2	-	47	7206	c.6940T>A	c.(6940-6942)Tct>Act	p.S2314T	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2276T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2276T|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTTCTGAGAAACAGGGACA	0.353000													29	96					0	0	0.000279167	0	0
UBC	7316	broad.mit.edu	37	12	125397805	125397805	+	Silent	SNP	G	G	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:125397805G>C	ENST00000536769.1	-	1	2089	c.513C>G	c.(511-513)ccC>ccG	p.P171P	UBC_ENST00000339647.5_Silent_p.P171P|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	171	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGGTGTCACTGGGCTCCACCT	0.517000													9	780					0	0	0.00010058	0	0
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								8	374					0	0	0.000274275	0	0
BSG	682	broad.mit.edu	37	19	578036	578036	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:578036C>T	ENST00000333511.3	+	2	400	c.330C>T	c.(328-330)gcC>gcT	p.A110A	BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	110					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGTGCCGGGCCAGCAACGACC	0.682000													83	142					0	0	0.000781405	0	0
MAGI2	9863	broad.mit.edu	37	7	78256514	78256514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:78256514C>T	ENST00000354212.4	-	3	713	c.460G>A	c.(460-462)Gat>Aat	p.D154N	MAGI2_ENST00000522391.1_Missense_Mutation_p.D154N|MAGI2_ENST00000536571.1_5'UTR|MAGI2_ENST00000535697.1_5'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.D154N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	154	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AAAATATAATCCACTCCAGGG	0.393000													26	66					0	0	0.000720815	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:59010864G>A	ENST00000263093.2	-	7	1771	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_ENST00000601355.1_Silent_p.T470T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000													187	355					0	0	0.000781405	0	0
FAT2	2196	broad.mit.edu	37	5	150929002	150929002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150929002C>T	ENST00000261800.5	-	8	4655	c.4643G>A	c.(4642-4644)gGa>gAa	p.G1548E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1548	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGAGGTTTCCATCCTCCAC	0.552000													39	22					0	0	0.000374591	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063217	9063217	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:9063217C>T	ENST00000382496.5	-	18	2965	c.2299_splice	c.e18-1	p.G767_splice		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	767					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCCAGAAAGCCCTGCCAAGGA	0.522000													18	29					0	0	0.000566183	0	0
ANK3	288	broad.mit.edu	37	10	61874073	61874073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61874073C>T	ENST00000280772.1	-	26	3049	c.2858G>A	c.(2857-2859)aGg>aAg	p.R953K	ANK3_ENST00000373827.2_Missense_Mutation_p.R947K|ANK3_ENST00000503366.1_Missense_Mutation_p.R954K|ANK3_ENST00000355288.2_Missense_Mutation_p.R87K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	953					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATCAAATTCCCTTGTGAATGT	0.333000													7	22					0	0	8.12818e-05	0	0
CDK13	8621	broad.mit.edu	37	7	40041554	40041554	+	Silent	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:40041554T>C	ENST00000181839.4	+	5	2882	c.2277T>C	c.(2275-2277)ctT>ctC	p.L759L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Silent_p.L759L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	759	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCCGGCAGCTTACCCATCAGA	0.343000													29	73					0	0	0.000878237	0	0
FAT4	79633	broad.mit.edu	37	4	126411151	126411151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:126411151C>T	ENST00000394329.3	+	17	13187	c.13174C>T	c.(13174-13176)Ccc>Tcc	p.P4392S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2633S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4392	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAACAGATCCCTCAGTGAA	0.512000													121	528					0	0	0.000781405	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756000													17	136					0	0	0.000491102	0	0
TNXB	7148	broad.mit.edu	37	6	32046957	32046957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:32046957C>T	ENST00000375244.3	-	11	4429	c.4228G>A	c.(4228-4230)Gat>Aat	p.D1410N	TNXB_ENST00000375247.2_Missense_Mutation_p.D1410N			P22105	TENX_HUMAN	tenascin XB	1497	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGCCCATCCCTGTCCTTG	0.637000													1436	2244					0	0	0.000781405	0	0
CNST	163882	broad.mit.edu	37	1	246784911	246784911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:246784911G>A	ENST00000366513.4	+	3	829	c.560G>A	c.(559-561)aGa>aAa	p.R187K	CNST_ENST00000366512.3_Missense_Mutation_p.R187K|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	187					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTGGATTCAAGAGCACTTCCC	0.458000													290	895					0	0	0.000781405	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956860	33956860	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:33956860C>T	ENST00000361328.3	+	6	1155	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ZSCAN20_ENST00000373413.2_Silent_p.F280F	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	334					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAAGACTTTCCTGGCAATTT	0.527000													113	137					0	0	0.000781405	0	0
CDH6	1004	broad.mit.edu	37	5	31305303	31305303	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:31305303A>T	ENST00000265071.2	+	7	1287	c.1022A>T	c.(1021-1023)aAa>aTa	p.K341I	CDH6_ENST00000514738.1_Missense_Mutation_p.K286I	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	341	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAAAGAAGAAAGTGTATACC	0.438000													5	54					0	0	8.12818e-05	0	0
FNDC1	84624	broad.mit.edu	37	6	159672449	159672449	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:159672449G>A	ENST00000297267.9	+	17	5150	c.4950G>A	c.(4948-4950)aaG>aaA	p.K1650K	FNDC1_ENST00000340366.6_Silent_p.K1587K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1650						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCTGAAGAAGAGTGACCTGC	0.547000													23	12					0	0	0.000229342	0	0
DOCK3	1795	broad.mit.edu	37	3	51417591	51417591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:51417591C>T	ENST00000266037.9	+	52	5559	c.5536C>T	c.(5536-5538)Cct>Tct	p.P1846S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1846						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTTCCACCACCCTCTGGGTGA	0.602000													147	210					0	0	0.000781405	0	0
ERC2	26059	broad.mit.edu	37	3	56468606	56468606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:56468606C>T	ENST00000288221.6	-	2	685	c.430G>A	c.(430-432)Gac>Aac	p.D144N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	144						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATTGTGCTGTCTCTTACCTGC	0.507000													64	161					0	0	0.000781405	0	0
NELL2	4753	broad.mit.edu	37	12	45059387	45059387	+	Missense_Mutation	SNP	C	C	T	rs150491663		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:45059387C>T	ENST00000429094.2	-	13	1828	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	NELL2_ENST00000551601.1_Missense_Mutation_p.D441N|NELL2_ENST00000395487.2_Missense_Mutation_p.D441N|NELL2_ENST00000452445.2_Missense_Mutation_p.D442N|NELL2_ENST00000549027.1_Missense_Mutation_p.D441N|NELL2_ENST00000333837.4_Missense_Mutation_p.D465N|NELL2_ENST00000437801.2_Missense_Mutation_p.D492N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	442	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCACACTCATCGATGTCTGTG	0.418000													34	118					0	0	0.000814825	0	0
RFX7	64864	broad.mit.edu	37	15	56386375	56386375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:56386375G>A	ENST00000423270.1	-	9	3550	c.3551C>T	c.(3550-3552)cCa>cTa	p.P1184L	RFX7_ENST00000317318.6_Missense_Mutation_p.P1184L|RFX7_ENST00000422057.1_Missense_Mutation_p.P1087L|RFX7_ENST00000559447.2_Missense_Mutation_p.P1087L	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1087					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATTAGATACTGGATAGAGGGT	0.463000													88	148					0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	122003539	122003539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122003539C>T	ENST00000498619.1	+	7	3206	c.2768C>T	c.(2767-2769)tCc>tTc	p.S923F	CASR_ENST00000296154.5_Missense_Mutation_p.S913F|CASR_ENST00000490131.1_Missense_Mutation_p.S913F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	913					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCTCCTCCTCCATCAGCAGC	0.662000													92	169					0	0	0.000781405	0	0
OR10P1	121130	broad.mit.edu	37	12	56031459	56031459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56031459C>T	ENST00000309675.2	+	1	816	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CACCTACATCCGGCCGCAGGC	0.577000													75	291					0	0	0.000781405	0	0
COL21A1	81578	broad.mit.edu	37	6	55924020	55924020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:55924020C>T	ENST00000244728.5	-	29	3026	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	COL21A1_ENST00000370808.2_Missense_Mutation_p.E243K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E877K|COL21A1_ENST00000370819.1_Missense_Mutation_p.E874K|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	877	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.E877K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCCTTTTTCCCCATTTCTT	0.448000													4	8					0	0	0.00024832	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871597	51871597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:51871597G>A	ENST00000371497.5	+	2	2487	c.1600G>A	c.(1600-1602)Ggg>Agg	p.G534R	TSHZ2_ENST00000329613.6_Missense_Mutation_p.G531R|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G531R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	534					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCCCAAAACGGGGCCCCCAG	0.552000													86	157					0	0	0.000781405	0	0
CENPC	1060	broad.mit.edu	37	4	68385125	68385125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:68385125C>T	ENST00000273853.6	-	6	677	c.427G>A	c.(427-429)Gat>Aat	p.D143N		NM_001812.2	NP_001803.2			centromere protein C																		CTGTGATGATCATTTATGTTT	0.353000													7	36					0	0	0.000274275	0	0
GHR	2690	broad.mit.edu	37	5	42719241	42719241	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:42719241C>T	ENST00000230882.4	+	10	1822	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	GHR_ENST00000357703.3_Silent_p.I522I|GHR_ENST00000537449.1_Silent_p.I357I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	544			I -> L (polymorphism with a modifier effect on plasma HDL cholesterol levels in familial hypercholesterolemia patients; dbSNP:rs6180).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGCATCCCTGTGGCTC	0.478000													4	28					0	0	0.00024832	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324599	86324599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:86324599G>A	ENST00000369622.3	-	11	2247	c.1747C>T	c.(1747-1749)Cag>Tag	p.Q583*	SYNCRIP_ENST00000355238.6_Intron|RP11-321N4.5_ENST00000503906.1_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	583					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCCCAGTTCTGATTATTGGTC	0.527000													215	125					0	0	0.000781405	0	0
HIPK3	10114	broad.mit.edu	37	11	33308557	33308557	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:33308557C>T	ENST00000303296.4	+	2	902	c.597C>T	c.(595-597)gtC>gtT	p.V199V	HIPK3_ENST00000456517.1_Silent_p.V199V|HIPK3_ENST00000379016.3_Silent_p.V199V|HIPK3_ENST00000525975.1_Silent_p.V199V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	199	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTTACGAAGTCCTTGATTTTC	0.393000													45	54					0	0	0.000509022	0	0
ROBO3	64221	broad.mit.edu	37	11	124749423	124749423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:124749423C>T	ENST00000397801.1	+	25	3940	c.3748C>T	c.(3748-3750)Cgg>Tgg	p.R1250W	ROBO3_ENST00000543966.1_Missense_Mutation_p.R13W|ROBO3_ENST00000538940.1_Missense_Mutation_p.R1228W|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1250					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGCTCGATTCCGGAAGAAACC	0.607000													41	150					0	0	0.000437636	0	0
AKT2	208	broad.mit.edu	37	19	40741983	40741983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:40741983G>A	ENST00000392038.2	-	11	1287	c.989C>T	c.(988-990)gCc>gTc	p.A330V	AKT2_ENST00000311278.6_Missense_Mutation_p.A287V|AKT2_ENST00000424901.1_Missense_Mutation_p.A330V|AKT2_ENST00000579047.1_Missense_Mutation_p.A268V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	330	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCAGTCCACGGCCCGGCCATA	0.637000			A		"""ovarian, pancreatic """								914	1585					0	0	0.000781405	0	0
FGFR1	2260	broad.mit.edu	37	8	38282210	38282210	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:38282210G>A	ENST00000447712.2	-	7	1694	c.753C>T	c.(751-753)tcC>tcT	p.S251S	RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000326324.6_Silent_p.S160S|FGFR1_ENST00000532791.1_Silent_p.S251S|FGFR1_ENST00000397113.2_Silent_p.S249S|FGFR1_ENST00000397091.5_Silent_p.S249S|FGFR1_ENST00000335922.5_Silent_p.S243S|FGFR1_ENST00000356207.5_Silent_p.S162S|FGFR1_ENST00000341462.5_Silent_p.S252S|FGFR1_ENST00000397108.4_Silent_p.S249S|FGFR1_ENST00000397103.1_Silent_p.S160S|FGFR1_ENST00000425967.3_Silent_p.S282S	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	251					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GCCGGTGAGGGGACCGCTCTG	0.607000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						186	305					0	0	0.000781405	0	0
HPS3	84343	broad.mit.edu	37	3	148863268	148863268	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:148863268C>T	ENST00000296051.2	+	5	1238	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	HPS3_ENST00000460120.1_Silent_p.V201V	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	366						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGATGTCAGTCTACCAGTATC	0.438000									Hermansky-Pudlak syndrome				77	116					0	0	0.000781405	0	0
DCDC2	51473	broad.mit.edu	37	6	24291202	24291202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:24291202C>T	ENST00000378454.3	-	5	963	c.662G>A	c.(661-663)aGt>aAt	p.S221N		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	221	Doublecortin 2.		S -> G (in dbSNP:rs2274305).		cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAGTAACTCACTGTAAGGCAG	0.408000													26	56					0	0	0.000586117	0	0
PHF20	51230	broad.mit.edu	37	20	34505530	34505530	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:34505530C>T	ENST00000374012.3	+	13	2079	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCTATGACTTCGAGGTGGTCC	0.502000													57	68					0	0	0.000781405	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182922015	182922015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:182922015G>A	ENST00000367547.3	-	1	490	c.254C>T	c.(253-255)gCg>gTg	p.A85V	SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	157										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						cgccgccgccgccgccTCTCC	0.751000													39	100					0	0	0.000228196	0	0
STAB1	23166	broad.mit.edu	37	3	52539159	52539159	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52539159G>A	ENST00000321725.6	+	13	1594	c.1518_splice	c.e13+1	p.K506_splice		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	506	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGATCCCAAGGTGAGCCAGC	0.617000													368	597					0	0	0.000781405	0	0
CELSR3	1951	broad.mit.edu	37	3	48688503	48688503	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:48688503G>A	ENST00000544264.1	-	15	6472	c.6192C>T	c.(6190-6192)ttC>ttT	p.F2064F	CELSR3_ENST00000164024.4_Silent_p.F2064F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2064	EGF-like 8; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCGGTAGTGGAACTCCTGTT	0.602000													188	282					0	0	0.000781405	0	0
KLK5	25818	broad.mit.edu	37	19	51455882	51455882	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:51455882A>C	ENST00000336334.3	-	2	384	c.32T>G	c.(31-33)gTg>gGg	p.V11G	CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.V11G|KLK5_ENST00000391809.2_Missense_Mutation_p.V11G	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	11					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGCACAGAGCACCCACATCCA	0.622000													60	153					0	0	0.000781405	0	0
ARAP2	116984	broad.mit.edu	37	4	36130218	36130218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:36130218G>A	ENST00000303965.4	-	21	4066	c.3577C>T	c.(3577-3579)Ctc>Ttc	p.L1193F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1193	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATGTCAGAGAGAAAACTTTTC	0.383000													4	30					0	0	0.00024832	0	0
BAGE2	85319	broad.mit.edu	37	21	11049480	11049480	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:11049480C>T	ENST00000470054.1	-	0	628									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)		GCACTCAGGACATTGCCAACC	0.428000													9	114					0	0	0.000219431	0	0
SFT2D1	113402	broad.mit.edu	37	6	166743718	166743718	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:166743718G>A	ENST00000361731.3	-	2	190	c.81C>T	c.(79-81)tcC>tcT	p.S27S	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1	Q8WV19	SFT2A_HUMAN	SFT2 domain containing 1	27					protein transport|vesicle-mediated transport	integral to membrane				NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		TGAAACTAAGGGATGAGGCAT	0.308000													43	19					0	0	0.000781405	0	0
STAG1	10274	broad.mit.edu	37	3	136192425	136192425	+	Translation_Start_Site	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:136192425T>C	ENST00000536929.1	-	0	20				STAG1_ENST00000434713.2_Missense_Mutation_p.R135G|STAG1_ENST00000236698.5_Missense_Mutation_p.R361G|STAG1_ENST00000383202.2_Missense_Mutation_p.R361G			Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AATAATTCTCTATTGGTATAT	0.348000													57	113					0	0	0.000781405	0	0
SLK	9748	broad.mit.edu	37	10	105778666	105778666	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:105778666G>A	ENST00000369755.3	+	15	3677	c.3132_splice	c.e15+1	p.K1044_splice	SLK_ENST00000335753.4_Splice_Site_p.K1013_splice|SLK_ENST00000474260.1_3'UTR	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1044					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCACGAGAAGGTTAATGAAA	0.323000													67	109					0	0	0.000781405	0	0
SZT2	23334	broad.mit.edu	37	1	43880764	43880764	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:43880764G>A	ENST00000562955.1	+	5	510	c.510G>A	c.(508-510)caG>caA	p.Q170Q		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	170						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCTGGTACAGGGCTGCCTCT	0.547000											OREG0013431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	67					0	0	0.000814825	0	0
GUCY2D	3000	broad.mit.edu	37	17	7910458	7910458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:7910458G>A	ENST00000254854.4	+	5	1609	c.1459G>A	c.(1459-1461)Gtg>Atg	p.V487M		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	487					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGCCCATTATGTGAGGTGAGT	0.557000													355	208					0	0	0.000781405	0	0
APOL4	80832	broad.mit.edu	37	22	36597776	36597776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:36597776C>T	ENST00000405511.1	-	3	427	c.5G>A	c.(4-6)gGa>gAa	p.G2E	APOL4_ENST00000328429.4_Missense_Mutation_p.G2E|APOL4_ENST00000429038.2_Missense_Mutation_p.G2E|APOL4_ENST00000479929.1_Intron|APOL4_ENST00000404685.3_Intron|APOL4_ENST00000352371.1_Intron|APOL4_ENST00000397275.2_Missense_Mutation_p.G2E|APOL4_ENST00000332987.1_Missense_Mutation_p.G2E	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	0					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CACCCAGGATCCCATCCTCCT	0.587000													14	25					0	0	0.000422831	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764321	140764321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:140764321G>A	ENST00000518325.1	+	1	1855	c.1855G>A	c.(1855-1857)Gtt>Att	p.V619I	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTTTGCGGTTGGGCTGTA	0.642000													243	109					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9065268	9065268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9065268G>A	ENST00000397910.4	-	3	22381	c.22178C>T	c.(22177-22179)tCt>tTt	p.S7393F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7395	Ser-rich.|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						CAGCTGGGAAGATGGAGGGCT	0.512000													14	17					0	0	0.000151284	0	0
LCE1E	353135	broad.mit.edu	37	1	152759908	152759908	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152759908A>G	ENST00000368770.3	+	2	186	c.133A>G	c.(133-135)Agt>Ggt	p.S45G	LCE1E_ENST00000368771.1_Missense_Mutation_p.S45G	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	45	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTGCTGCAGTGTCAGCTC	0.662000													17	1036					0	0	0.000308642	0	0
ADAM18	8749	broad.mit.edu	37	8	39495136	39495136	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:39495136G>A	ENST00000265707.5	+	9	786	c.741G>A	c.(739-741)ggG>ggA	p.G247G	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G223G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	247	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCACCAGTGGGGATGCTGATG	0.378000													10	17					0	0	0.000442599	0	0
HSPG2	3339	broad.mit.edu	37	1	22204701	22204701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:22204701G>A	ENST00000374695.3	-	21	2742	c.2663C>T	c.(2662-2664)tCc>tTc	p.S888F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	888	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCCTCCCCGGAGGTCCCCAT	0.637000													90	188					0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126373919	126373919	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:126373919G>A	ENST00000394329.3	+	9	11761	c.11748G>A	c.(11746-11748)caG>caA	p.Q3916Q	FAT4_ENST00000335110.5_Silent_p.Q2214Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3916	EGF-like 3; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATCTGCCAGAATTTTCCAG	0.443000													26	13					0	0	0.000720815	0	0
RELN	5649	broad.mit.edu	37	7	103126851	103126851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:103126851G>A	ENST00000428762.1	-	61	9935	c.9776C>T	c.(9775-9777)tCt>tTt	p.S3259F	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.S3259F|RELN_ENST00000343529.5_Missense_Mutation_p.S3259F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3259	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGAAAACAGAGCAGTCATC	0.423000													20	31					0	0	0.000175454	0	0
SDK1	221935	broad.mit.edu	37	7	3681621	3681621	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:3681621G>A	ENST00000404826.2	+	4	736	c.597G>A	c.(595-597)agG>agA	p.R199R	SDK1_ENST00000389531.3_Silent_p.R199R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	199	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGACCAGAGGAAAACAGTTT	0.468000													61	160					0	0	0.000781405	0	0
USP44	84101	broad.mit.edu	37	12	95914826	95914826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:95914826C>T	ENST00000258499.3	-	5	2174	c.1886G>A	c.(1885-1887)gGg>gAg	p.G629E	USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.G629E|USP44_ENST00000393091.2_Missense_Mutation_p.G629E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	629					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AAATCCTTTCCCATGGTGCAT	0.458000													74	213					0	0	0.000781405	0	0
KIF2B	84643	broad.mit.edu	37	17	51902363	51902363	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:51902363A>G	ENST00000268919.4	+	1	2125	c.1969A>G	c.(1969-1971)Aag>Gag	p.K657E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	657					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGAGATCCAAAAGAAACTGAA	0.458000													99	178					0	0	0.000781405	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146321	5146321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:5146321G>A	ENST00000274181.7	+	3	392	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R85Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	85					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATCAGCGGCGGAGAAGAGCA	0.542000													45	227					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179596677	179596677	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179596677T>C	ENST00000589042.1	-	58	17149	c.16925A>G	c.(16924-16926)gAa>gGa	p.E5642G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4398G|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5325G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5325	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTTAAATTCCTTGGTAAA	0.443000													17	16					0	0	0.000566183	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290886	20290886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:20290886G>A	ENST00000377252.3	+	2	1136	c.295G>A	c.(295-297)Gat>Aat	p.D99N	PLXDC2_ENST00000377242.3_Missense_Mutation_p.D99N	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	99						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCTGCTGGATGATGGGCAGGA	0.443000													4	15					0	0	0.000602214	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													8	1065					0	0	6.40141e-05	0	0
FANCG	2189	broad.mit.edu	37	9	35077033	35077033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:35077033C>T	ENST00000378643.3	-	6	1203	c.712G>A	c.(712-714)Ggc>Agc	p.G238S		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	238					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGACACAGGCCTGAGGCCGCT	0.577000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					275	450					0	0	0.000781405	0	0
ITIH6	347365	broad.mit.edu	37	X	54777626	54777626	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:54777626G>A	ENST00000218436.6	-	12	3569	c.3540C>T	c.(3538-3540)gcC>gcT	p.A1180A		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1180					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCTTCAGCAGGGCAGGTTGGT	0.602000													41	28					0	0	0.000270559	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													6	794					0	0	0.000673444	0	0
CAPN3	825	broad.mit.edu	37	15	42702858	42702858	+	Missense_Mutation	SNP	G	G	A	rs146923842	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:42702858G>A	ENST00000397163.3	+	21	2476	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	CAPN3_ENST00000569136.1_Missense_Mutation_p.D88N|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000561817.1_Missense_Mutation_p.D88N|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.D747N|CAPN3_ENST00000397200.4_Missense_Mutation_p.D241N|CAPN3_ENST00000349748.3_Missense_Mutation_p.D661N|CAPN3_ENST00000397204.4_Missense_Mutation_p.D88N|CAPN3_ENST00000318023.7_Missense_Mutation_p.D747N|CAPN3_ENST00000337571.4_Missense_Mutation_p.D88N|CAPN3_ENST00000356316.3_Missense_Mutation_p.D660N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	753	Domain IV.|EF-hand 3.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGCAGTCAACGACGCAGGTGC	0.532000													27	42					0	0	0.000878237	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151214646	151214646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151214646C>T	ENST00000409426.1	+	12	1820	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	PIP5K1A_ENST00000368888.4_Missense_Mutation_p.R471W|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.R431W|PIP5K1A_ENST00000368890.4_Intron			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	471					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.R471W(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTTTCTCTCGGCGAGCAGG	0.502000													318	800					0	0	0.000781405	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245413	84245413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:84245413G>A	ENST00000324537.5	+	9	1060	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SH3GL3_ENST00000434347.1_Missense_Mutation_p.E190K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.E182K|SH3GL3_ENST00000427482.2_Missense_Mutation_p.E182K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	182	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ACCAGACGAAGAAGTCAGACA	0.373000													25	32					0	0	0.00047179	0	0
KDM2B	84678	broad.mit.edu	37	12	121880394	121880394	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:121880394C>T	ENST00000377069.4	-	18	3049	c.2643G>A	c.(2641-2643)ctG>ctA	p.L881L	KDM2B_ENST00000542973.1_Silent_p.L318L|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.L950L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	950					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						gctccttgctcagctccctgc	0.647000													45	124					0	0	0.000437636	0	0
APBB1	322	broad.mit.edu	37	11	6424924	6424924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6424924C>T	ENST00000389906.2	-	3	949	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	APBB1_ENST00000311051.3_Missense_Mutation_p.G284S|APBB1_ENST00000533407.1_Missense_Mutation_p.G25S|APBB1_ENST00000530885.1_Missense_Mutation_p.G64S|APBB1_ENST00000299402.6_Missense_Mutation_p.G284S	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	284	WW.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GAGGCCCGGCCGGGGGGTTCC	0.652000													239	302					0	0	0.000781405	0	0
DNAH9	1770	broad.mit.edu	37	17	11573027	11573027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:11573027G>A	ENST00000262442.3	+	17	3337	c.3269G>A	c.(3268-3270)cGa>cAa	p.R1090Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1090Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1090	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATTGATATTCGACCCTTTAAG	0.443000													97	90					0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7527893	7527893	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:7527893G>A	ENST00000313599.3	-	11	3042	c.2985C>T	c.(2983-2985)gtC>gtT	p.V995V	CD163L1_ENST00000396630.1_Silent_p.V995V|CD163L1_ENST00000416109.2_Silent_p.V1005V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	995	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGATCACAGAGACAGTATTTC	0.433000													20	59					0	0	0.000175454	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739586	15739586	+	RNA	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15739586C>T	ENST00000441682.2	+	0	1391							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGACCCCTTCCGCTTCGACCC	0.597000													152	335					0	0	0.000781405	0	0
S100A10	6281	broad.mit.edu	37	1	151958704	151958704	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151958704C>A	ENST00000368811.3	-	2	662	c.3G>T	c.(1-3)atG>atT	p.M1I	S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Start_Codon_SNP_p.M1I	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	1					signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTGAGATGGCATTTTGGTGT	0.373000													456	524					6.49808e-133	9.46252e-132	0.000781405	1	0
ANKS1A	23294	broad.mit.edu	37	6	34949602	34949602	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:34949602C>T	ENST00000360359.3	+	4	709	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	ANKS1A_ENST00000535627.1_Silent_p.L191L	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	191						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGGCAGCACTGTACGGGCG	0.562000													60	91					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179594198	179594198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179594198C>T	ENST00000589042.1	-	64	18909	c.18685G>A	c.(18685-18687)Gaa>Aaa	p.E6229K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4985K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5912K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5912	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTGACTTCAAACGGAGGT	0.443000													17	25					0	0	0.000422831	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725616	3725616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:3725616G>A	ENST00000254963.2	+	5	479	c.334G>A	c.(334-336)Gag>Aag	p.E112K	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	112							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCTGACTCCGGAGGGCGCCTT	0.642000													477	861					0	0	0.000781405	0	0
KCNH7	90134	broad.mit.edu	37	2	163693197	163693197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:163693197C>T	ENST00000332142.5	-	2	256	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	KCNH7_ENST00000328032.4_Missense_Mutation_p.G53S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	53	PAS.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTGGAGAAACCAGTCATCTCA	0.443000													103	178					0	0	0.000781405	0	0
SDK2	54549	broad.mit.edu	37	17	71395335	71395335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:71395335G>A	ENST00000392650.3	-	22	3065	c.3065C>T	c.(3064-3066)tCc>tTc	p.S1022F	SDK2_ENST00000388726.3_Missense_Mutation_p.S1022F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1022	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCGGGAGATGGAGGTTTTCCC	0.637000													158	271					0	0	0.000781405	0	0
FAM63A	55793	broad.mit.edu	37	1	150972934	150972934	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:150972934T>C	ENST00000361936.5	-	6	1688	c.735_splice	c.e6+1	p.Q245_splice	FAM63A_ENST00000312210.5_Splice_Site_p.Q103_splice|FAM63A_ENST00000361738.6_Splice_Site_p.Q293_splice|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Splice_Site_p.Q150_splice	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	245							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACCCTCACCTGTGGATCAAC	0.517000													5	889					0	0	8.12818e-05	0	0
SLC38A9	153129	broad.mit.edu	37	5	54923779	54923779	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:54923779A>T	ENST00000396865.2	-	15	2051	c.1460T>A	c.(1459-1461)aTt>aAt	p.I487N	SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Missense_Mutation_p.I424N|SLC38A9_ENST00000512595.1_Missense_Mutation_p.I424N|SLC38A9_ENST00000416547.2_Missense_Mutation_p.I363N|SLC38A9_ENST00000318672.3_Missense_Mutation_p.I487N	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	487					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TCCCACAATAATTAGATTAAG	0.368000													61	60					0	0	0.000781405	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856307	62856307	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:62856307G>A	ENST00000584306.1	-	11	4487	c.3957C>T	c.(3955-3957)ccC>ccT	p.P1319P	LRRC37A3_ENST00000339474.5_Silent_p.P437P|LRRC37A3_ENST00000400877.3_Silent_p.P357P|LRRC37A3_ENST00000334962.5_Silent_p.P296P|LRRC37A3_ENST00000319651.5_Silent_p.P1319P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1319						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTTGACCTTGGGTGTTCTGT	0.428000													317	576					0	0	0.000781405	0	0
GTPBP10	85865	broad.mit.edu	37	7	89982181	89982181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:89982181G>A	ENST00000222511.6	+	2	151	c.85G>A	c.(85-87)Gga>Aga	p.G29R	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	29					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGATCCGGTGGAATGGGTTA	0.393000											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	76	148					0	0	0.000781405	0	0
RHD	6007	broad.mit.edu	37	1	25655545	25655545	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:25655545G>T	ENST00000342055.5	+	9	1400	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	RHD_ENST00000417538.2_3'UTR|RHD_ENST00000423810.2_3'UTR|RHD_ENST00000454452.2_3'UTR|RHD_ENST00000568195.1_Missense_Mutation_p.R437I|RHD_ENST00000328664.4_3'UTR|RHD_ENST00000357542.4_3'UTR			Q02161	RHD_HUMAN	Rh blood group, D antigen	0						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		actggagtcagagaaaatgga	0.423000													60	15					3.30712e-30	4.76674e-29	0.000781405	1	0
COL4A6	1288	broad.mit.edu	37	X	107418430	107418430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:107418430G>A	ENST00000394872.2	-	30	3080	c.2849C>T	c.(2848-2850)cCg>cTg	p.P950L	COL4A6_ENST00000372216.4_Missense_Mutation_p.P950L|COL4A6_ENST00000334504.7_Missense_Mutation_p.P949L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P949L|COL4A6_ENST00000538570.1_Missense_Mutation_p.P949L			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	950	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GACTGGCCCCGGATTGCCTCT	0.512000									Alport syndrome with Diffuse Leiomyomatosis				92	30					0	0	0.000781405	0	0
C5orf45	51149	broad.mit.edu	37	5	179264662	179264662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:179264662G>A	ENST00000292586.6	-	7	851	c.761C>T	c.(760-762)cCc>cTc	p.P254L	C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000518219.1_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.P120L|C5orf45_ENST00000376931.2_Missense_Mutation_p.P199L|SQSTM1_ENST00000389805.4_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	254										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AGCTGGCCTGGGGTCCCTCTG	0.587000													260	142					0	0	0.000781405	0	0
FCRL4	83417	broad.mit.edu	37	1	157548633	157548633	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:157548633G>A	ENST00000271532.1	-	9	1422	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	429						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGCCTGGAGCGGGAGGGAGCC	0.547000													20	10					0	0	0.000132079	0	0
NWD1	284434	broad.mit.edu	37	19	16902222	16902222	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:16902222A>T	ENST00000524140.2	+	14	3420	c.3002A>T	c.(3001-3003)gAt>gTt	p.D1001V	NWD1_ENST00000523826.1_Missense_Mutation_p.D795V|NWD1_ENST00000379808.3_Missense_Mutation_p.D1001V|NWD1_ENST00000339803.6_Missense_Mutation_p.D866V|NWD1_ENST00000549814.1_Missense_Mutation_p.D1001V|NWD1_ENST00000552788.1_Missense_Mutation_p.D1001V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1001							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GATGCCTCTGATCCTTGGATG	0.522000													106	219					0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	3008941	3008941	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:3008941C>T	ENST00000520002.1	-	41	6567	c.6012G>A	c.(6010-6012)agG>agA	p.R2004R	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.R2004R|CSMD1_ENST00000400186.3_Silent_p.R2004R|CSMD1_ENST00000602557.1_Silent_p.R2004R|CSMD1_ENST00000542608.1_Silent_p.R2003R|CSMD1_ENST00000539096.1_Silent_p.R2003R|CSMD1_ENST00000537824.1_Silent_p.R2003R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2004	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAATGAGATCCTCCAGGTGC	0.448000													17	26					0	0	0.000958276	0	0
FAM65B	9750	broad.mit.edu	37	6	24875981	24875981	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:24875981G>A	ENST00000259698.4	-	2	214	c.39C>T	c.(37-39)ccC>ccT	p.P13P	FAM65B_ENST00000510784.2_Silent_p.P47P|FAM65B_ENST00000540914.1_Silent_p.P13P|FAM65B_ENST00000378023.4_Silent_p.P13P|FAM65B_ENST00000538035.1_Silent_p.P42P	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	13				P -> A (in Ref. 1; AAC51134).	cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGATCCCATTGGGCCCTCCAG	0.527000													8	18					0	0	6.40141e-05	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654486	49654486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:49654486G>A	ENST00000249601.4	-	10	2341	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L	ARHGAP22_ENST00000477708.2_Missense_Mutation_p.S515L|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.S592L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.S688L|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.S523L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.S573L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.S698L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	682					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTAGGGTCGAAAAAAACTC	0.542000													175	461					0	0	0.000781405	0	0
C19orf54	284325	broad.mit.edu	37	19	41250078	41250078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41250078G>A	ENST00000378313.2	-	4	660	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000470681.1_Intron|C19orf54_ENST00000598729.1_Intron	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	181										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCACCTCCTGGGCCAGCCTG	0.662000													44	85					0	0	0.000374591	0	0
AP4E1	23431	broad.mit.edu	37	15	51250972	51250972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:51250972G>A	ENST00000261842.5	+	14	1938	c.1832G>A	c.(1831-1833)aGg>aAg	p.R611K	AP4E1_ENST00000560508.1_Missense_Mutation_p.R536K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	611					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CCAGTTGACAGGAGTTGTGAA	0.348000													24	53					0	0	0.000586117	0	0
DLL1	28514	broad.mit.edu	37	6	170594138	170594138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:170594138C>T	ENST00000366756.3	-	8	1451	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	373	EGF-like 5.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AAAGCAAGGGCCGTCCGCACA	0.577000													215	111					0	0	0.000781405	0	0
ALG10B	144245	broad.mit.edu	37	12	38714324	38714324	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:38714324T>A	ENST00000308742.4	+	3	1047	c.731T>A	c.(730-732)tTt>tAt	p.F244Y	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	244					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCCATGTCCTTTAAAAACTTG	0.368000													129	479					0	0	0.000781405	0	0
TFCP2	7024	broad.mit.edu	37	12	51566125	51566125	+	Silent	SNP	G	G	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:51566125G>T	ENST00000307660.4	-	1	801	c.81C>A	c.(79-81)tcC>tcA	p.S27S	TFCP2_ENST00000257915.5_Silent_p.S27S|TFCP2_ENST00000548115.1_Silent_p.S27S|TFCP2_ENST00000549867.1_Silent_p.S27S	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	27					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGCCGATCCCGGACAGGCTAG	0.557000													9	763					3.86212e-05	0.00054602	0.000673444	1	0
UBXN10	127733	broad.mit.edu	37	1	20517565	20517565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:20517565G>A	ENST00000375099.3	+	2	595	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	171										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						TTGTGCCGTGGAGAGGAAATT	0.527000													193	280					0	0	0.000781405	0	0
DMBT1	1755	broad.mit.edu	37	10	124377832	124377832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124377832G>A	ENST00000338354.3	+	38	4910	c.4804G>A	c.(4804-4806)Gaa>Aaa	p.E1602K	DMBT1_ENST00000344338.3_Missense_Mutation_p.E1592K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1602K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E453K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E974K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E974K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E1592K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1602	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCATGAAGATGCTGG	0.512000													65	137					0	0	0.000781405	0	0
AMACR	23600	broad.mit.edu	37	5	33989322	33989322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:33989322C>T	ENST00000335606.6	-	5	1113	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K	AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.R342K|AMACR_ENST00000502637.1_Missense_Mutation_p.R327K|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	342				FKR -> SKG (in Ref. 1; CAB44062).	bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GAAAGGATCCCTTTTGAAAGA	0.473000													52	255					0	0	0.000781405	0	0
KIF1A	547	broad.mit.edu	37	2	241728671	241728671	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:241728671G>A	ENST00000498729.2	-	3	411	c.165C>T	c.(163-165)tcC>tcT	p.S55S	KIF1A_ENST00000320389.7_Silent_p.S55S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	55	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCGACCAGTAGGAGTAGTCAA	0.617000													174	321					0	0	0.000781405	0	0
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:15323347T>C	ENST00000455308.2	-	0	501					NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303000													5	26					0	0	8.12818e-05	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340041	29340041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:29340041C>T	ENST00000269205.5	-	1	802	c.614G>A	c.(613-615)gGt>gAt	p.G205D	SLC25A52_ENST00000579441.2_Missense_Mutation_p.G195D	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	195					transport	integral to membrane|mitochondrial inner membrane											CTTAATGGGACCTCGAAGGCC	0.473000													263	451					0	0	0.000781405	0	0
PDP1	54704	broad.mit.edu	37	8	94935236	94935236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:94935236C>T	ENST00000396200.3	+	3	1300	c.1024C>T	c.(1024-1026)Caa>Taa	p.Q342*	PDP1_ENST00000297598.4_Nonsense_Mutation_p.Q317*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.Q317*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.Q317*	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	317					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACAATGCTCAAAATGAAAG	0.507000													161	253					0	0	0.000781405	0	0
FBN3	84467	broad.mit.edu	37	19	8174164	8174164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8174164G>A	ENST00000600128.1	-	36	4979	c.4565C>T	c.(4564-4566)tCc>tTc	p.S1522F	FBN3_ENST00000270509.2_Missense_Mutation_p.S1522F|FBN3_ENST00000601739.1_Missense_Mutation_p.S1522F			Q75N90	FBN3_HUMAN	fibrillin 3	1522	TB 6.					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						CCGGCCCAGGGAGCAACAGCA	0.627000													88	201					0	0	0.000781405	0	0
BRPF3	27154	broad.mit.edu	37	6	36196743	36196743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:36196743C>T	ENST00000357641.6	+	12	3597	c.3344C>T	c.(3343-3345)cCg>cTg	p.P1115L	BRPF3_ENST00000534694.1_Missense_Mutation_p.P781L|BRPF3_ENST00000443324.2_Missense_Mutation_p.P781L|BRPF3_ENST00000534400.1_Silent_p.P1082P|BRPF3_ENST00000339717.7_Missense_Mutation_p.P845L|BRPF3_ENST00000543502.1_Missense_Mutation_p.P845L	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1115	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.P1115Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTGTCCCCCCGCTGGACGTG	0.582000													71	187					0	0	0.000781405	0	0
MTUS1	57509	broad.mit.edu	37	8	17579394	17579394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:17579394C>T	ENST00000381861.3	-	1	336	c.17G>A	c.(16-18)gGa>gAa	p.G6E	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ACTGCGAAATCCTCCTGGTAC	0.413000													25	44					0	0	0.000279167	0	0
DAAM2	23500	broad.mit.edu	37	6	39846280	39846280	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:39846280G>A	ENST00000538976.1	+	13	1643	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	DAAM2_ENST00000274867.4_Silent_p.K487K|DAAM2_ENST00000398904.2_Silent_p.K487K	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	487					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACAAAATGAAGGACAAGCTGG	0.567000													12	21					0	0	6.40141e-05	0	0
DIP2C	22982	broad.mit.edu	37	10	408428	408428	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:408428A>G	ENST00000280886.6	-	22	2882		c.e22+1		DIP2C_ENST00000540204.1_Splice_Site|DIP2C_ENST00000381496.3_Splice_Site	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)							nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGTGCACATACCTGGCTGCT	0.597000													133	264					0	0	0.000781405	0	0
TENM4	26011	broad.mit.edu	37	11	78443510	78443510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:78443510C>T	ENST00000278550.7	-	21	3451	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATGATGGTTTCCATGACAAAG	0.552000													19	26					0	0	0.00074312	0	0
COL18A1	80781	broad.mit.edu	37	21	46931086	46931086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46931086C>T	ENST00000359759.4	+	40	5021	c.5000C>T	c.(4999-5001)cCc>cTc	p.P1667L	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.P1432L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P1252L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1667	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGCTGAAGCCCGGGGCACGC	0.617000													29	24					0	0	0.000692331	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481048	140481048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:140481048G>A	ENST00000231130.2	+	1	815	c.815G>A	c.(814-816)gGa>gAa	p.G272E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		272	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGATACAGGAAGTTTTGGG	0.408000													406	208					0	0	0.000781405	0	0
EVA1C	59271	broad.mit.edu	37	21	33873794	33873794	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:33873794A>C	ENST00000300255.2	+	6	1321	c.848A>C	c.(847-849)gAt>gCt	p.D283A	EVA1C_ENST00000485488.1_Intron|EVA1C_ENST00000401402.3_Missense_Mutation_p.D235A|EVA1C_ENST00000382699.3_Missense_Mutation_p.D283A	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		AAGCAGAAAGATGGTGAATAT	0.378000													45	31					0	0	0.000781405	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112004017	112004017	+	Silent	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:112004017G>A	ENST00000374557.4	-	16	1999	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	EPB41L4B_ENST00000374566.3_Intron	NM_018424.2	NP_060894.2	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	0						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGGTCGTGGACATAATCAA	0.453000													85	57					0	0	0.000781405	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537200	5537200	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5537200T>C	ENST00000380184.1	-	1	735	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	158										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GTATGCACTTTGGGTGCATCA	0.512000													27	30					0	0	0.000586117	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019254	147019254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:147019254C>T	ENST00000265272.5	-	10	1938	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A449T|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A491T	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	491						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGCATATGCTCTTTGGAGG	0.448000													219	161					0	0	0.000781405	0	0
SLC9A5	6553	broad.mit.edu	37	16	67288959	67288959	+	Silent	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:67288959C>T	ENST00000299798.11	+	3	591	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	176					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGACTTCCTGCTGTTTGGGAG	0.572000													152	257					0	0	0.000781405	0	0
CLCA3P	9629	broad.mit.edu	37	1	87101784	87101784	+	RNA	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:87101784G>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA														p.R149Q(1)									TATGGGCCTCGAGGTAGAGAT	0.328000													37	71					0	0	0.000509022	0	0
OR8B2	26595	broad.mit.edu	37	11	124253044	124253044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:124253044G>A	ENST00000375013.2	-	1	214	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGAAGGAGAGATTGAAGAGG	0.398000													26	35					0	0	0.000878237	0	0
CCDC101	112869	broad.mit.edu	37	16	28602126	28602126	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:28602126C>A	ENST00000317058.3	+	9	822	c.635C>A	c.(634-636)cCg>cAg	p.P212Q		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	212	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CGTGTCATCCCGCTGCCCCAG	0.632000													8	354					0.000673444	0.00928291	0.000673444	1	0
NREP	9315	broad.mit.edu	37	5	111066742	111066742	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:111066742C>T	ENST00000379671.3	-	5	347	c.81_splice	c.e5-1	p.G28_splice	NREP_ENST00000509979.1_3'UTR|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000453526.2_Splice_Site_p.G28_splice|NREP_ENST00000447165.2_Splice_Site_p.G28_splice|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000419114.2_Splice_Site_p.G28_splice|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000446294.2_Splice_Site_p.G28_splice|NREP_ENST00000509025.1_Intron|NREP_ENST00000455559.2_Splice_Site_p.G28_splice|NREP_ENST00000257435.7_Splice_Site_p.G28_splice|NREP_ENST00000508870.1_Splice_Site_p.G28_splice|NREP_ENST00000395634.3_Splice_Site_p.G72_splice|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000450761.2_Splice_Site_p.G28_splice|NREP_ENST00000509427.1_Splice_Site_p.G28_splice	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	28						cytoplasm											AGGAAGTCTTCCCTGCAAAGC	0.478000													7	12					0	0	0.000157383	0	0
FHOD1	29109	broad.mit.edu	37	16	67264530	67264530	+	Silent	SNP	C	C	T	rs111846078	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:67264530C>T	ENST00000258201.4	-	18	3079	c.2832G>A	c.(2830-2832)agG>agA	p.R944R	FHOD1_ENST00000567687.1_Silent_p.R523R	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	944	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGTGCACTATCCTTAGCATGG	0.627000													726	1307					0	0	0.000781405	0	0
VIT	5212	broad.mit.edu	37	2	36982174	36982174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:36982174G>A	ENST00000379242.3	+	5	688	c.386G>A	c.(385-387)tGg>tAg	p.W129*	VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Nonsense_Mutation_p.W129*|VIT_ENST00000404084.1_Nonsense_Mutation_p.W107*|VIT_ENST00000389975.3_Nonsense_Mutation_p.W129*|VIT_ENST00000401530.1_Nonsense_Mutation_p.W129*|VIT_ENST00000379241.3_Nonsense_Mutation_p.W129*	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	129	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTACCACGATGGAGAGAATCC	0.438000													10	28					0	0	0.000442599	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901443	160901443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:160901443G>A	ENST00000283243.7	-	2	541	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S112F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	112	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCACCGTAAGGAAACGAGGGT	0.532000													69	136					0	0	0.000781405	0	0
NFX1	4799	broad.mit.edu	37	9	33311115	33311115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:33311115C>T	ENST00000379540.3	+	6	1450	c.1388C>T	c.(1387-1389)cCa>cTa	p.P463L	NFX1_ENST00000379521.4_Missense_Mutation_p.P463L|NFX1_ENST00000318524.6_Missense_Mutation_p.P463L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	463					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTCTGCCATCCAGGACCCTGC	0.453000													85	148					0	0	0.000781405	0	0
MANEAL	149175	broad.mit.edu	37	1	38265300	38265300	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:38265300T>G	ENST00000373045.6	+	4	1180	c.799T>G	c.(799-801)Ttt>Gtt	p.F267V	MANEAL_ENST00000525897.1_Missense_Mutation_p.F73V|MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Missense_Mutation_p.F45V	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	267						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTCCCACTCTTTTATATCTA	0.557000													548	865					0	0	0.000781405	0	0
FCRL4	83417	broad.mit.edu	37	1	157548634	157548634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:157548634G>A	ENST00000271532.1	-	9	1421	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	429						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCCTGGAGCGGGAGGGAGCCT	0.547000													20	9					0	0	0.000132079	0	0
LRP1B	53353	broad.mit.edu	37	2	141128855	141128855	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:141128855C>T	ENST00000389484.3	-	70	11740		c.e70-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGGAGAAGCTGAATACAAT	0.284000										TSP Lung(27;0.18)			4	6					0	0	0.000602214	0	0
LYST	1130	broad.mit.edu	37	1	235972583	235972583	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:235972583T>C	ENST00000389794.3	-	5	1709	c.1535A>G	c.(1534-1536)cAt>cGt	p.H512R	LYST_ENST00000536965.1_Missense_Mutation_p.H512R|LYST_ENST00000389793.2_Missense_Mutation_p.H512R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	512					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCTCGGTGATGATGCATAAA	0.383000													33	59					0	0	0.000409698	0	0
GABRD	2563	broad.mit.edu	37	1	1956774	1956774	+	Splice_Site	DEL	C	C	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1956774delC	ENST00000378585.4	+	3	266	c.181_splice	c.e3-1	p.G61_splice		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCCTTGCAGGCCCCCCCGTGA	0.647													9	1475	---	---	---	---					
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-	rs141981296	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gcc>g	p.AT218del	AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	218	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635													10	228	---	---	---	---					
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	886	---	---	---	---					
SLC2A5	6518	broad.mit.edu	37	1	9098944	9098946	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:9098944_9098946delCAG	ENST00000377424.4	-	9	1218_1220	c.1039_1041delCTG	c.(1039-1041)del	p.L347del	SLC2A5_ENST00000535586.1_In_Frame_Del_p.L232del|SLC2A5_ENST00000536305.1_In_Frame_Del_p.L288del	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	347					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGAAGCCCAGCAGCAGCAGC	0.675													7	404	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													7	516	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105676	27105678	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:27105676_27105678delGAA	ENST00000324856.7	+	20	5658_5660	c.5287_5289delGAA	c.(5287-5289)del	p.E1767del	ARID1A_ENST00000457599.2_In_Frame_Del_p.E1550del|ARID1A_ENST00000374152.2_In_Frame_Del_p.E1384del|ARID1A_ENST00000540690.1_In_Frame_Del_p.E95del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1767					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGGGTGGGGAAGAAGAAGAAG	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	683	---	---	---	---					
LRRC41	10489	broad.mit.edu	37	1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:46752129delA	ENST00000343304.6	-	4	685	c.400delT	c.(400-402)ccfs	p.S134fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	134										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483													7	718	---	---	---	---					
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)agt>a	p.IS84del	NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTGAAAATACTTATTATTATTAT	0.305													9	312	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65306996	65306997	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:65306996_65306997insT	ENST00000342505.4	-	19	2828_2829	c.2580_2581insA	c.(2578-2583)aacagcfs	p.NS860fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	860					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCAGTTGCTGGTTTTTTTTCTG	0.470			Mis		ALL								8	471	---	---	---	---					
PSMA5	5686	broad.mit.edu	37	1	109964541	109964542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:109964541_109964542insC	ENST00000271308.4	-	2	56_57	c.36_37insG	c.(34-39)gtatacfs	p.Y13fs	PSMA5_ENST00000538610.1_Intron|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	13					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		GAAAAAGTATTCACGCCCCtat	0.347													7	1383	---	---	---	---					
AP4B1	10717	broad.mit.edu	37	1	114438939	114438939	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:114438939delA	ENST00000369569.1	-	8	1731	c.1451delT	c.(1450-1452)tcfs	p.F484fs	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Frame_Shift_Del_p.F316fs|AP4B1_ENST00000256658.4_Frame_Shift_Del_p.F484fs|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	484					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGGAGAGGAAAAGGCGCAG	0.458													7	642	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													4	7	---	---	---	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:150530506delG	ENST00000271643.4	+	14	2499	c.2263delG	c.(2263-2265)ggfs	p.G758fs	ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													11	1778	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152083468	152083469	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152083468_152083469insG	ENST00000368804.1	-	2	2223_2224	c.2224_2225insC	c.(2224-2226)ggafs	p.G742fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	742					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTCTCCCGGCGCCGCCTC	0.653													7	2700	---	---	---	---					
GPATCH4	54865	broad.mit.edu	37	1	156565385	156565385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156565385delT	ENST00000368232.4	-	8	865	c.733delA	c.(733-735)ggfs	p.R246fs	GPATCH4_ENST00000438976.2_Frame_Shift_Del_p.R251fs	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	246						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGATGTCGCCTTTTCTTCTTC	0.458													7	2781	---	---	---	---					
COPA	1314	broad.mit.edu	37	1	160295426	160295427	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160295426_160295427insT	ENST00000241704.7	-	7	741_742	c.512_513insA	c.(511-513)actfs	p.T171fs	COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	171					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406													7	688	---	---	---	---					
MAPKAPK2	9261	broad.mit.edu	37	1	206858676	206858678	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:206858676_206858678delGCC	ENST00000367103.3	+	1	295_297	c.102_104delGCC	c.(100-105)cag>ca	p.QP34del	MAPKAPK2_ENST00000294981.4_In_Frame_Del_p.QP34del	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	34	Pro-rich.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|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	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ccccggcgcagccgccgccgccg	0.729													8	177	---	---	---	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)afs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													11	993	---	---	---	---					
PPP1R21	129285	broad.mit.edu	37	2	48692631	48692631	+	Splice_Site	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:48692631delG	ENST00000294952.8	+	9	904		c.e9-1		PPP1R21_ENST00000281394.4_Splice_Site|PPP1R21_ENST00000449090.2_Splice_Site	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21											endometrium(2)|kidney(4)|lung(9)	15						TCATTTTAAAGCTGAAGATGC	0.368													28	76	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttc>tt	p.FR1089del	DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1089	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655													12	1473	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:74687542_74687543insC	ENST00000393972.3	+	5	849_850	c.646_647insC	c.(646-648)cccfs	p.P216fs	WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													8	1310	---	---	---	---					
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-690)ctafs	p.L230fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	230					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663													10	904	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													18	875	---	---	---	---					
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:100218011_100218013delGCT	ENST00000317233.4	-	13	1490_1492	c.1255_1257delAGC	c.(1255-1257)del	p.S419del	AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													8	219	---	---	---	---					
AQP12A	375318	broad.mit.edu	37	2	241631786	241631786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:241631786delG	ENST00000429564.1	+	2	518	c.455delG	c.(454-456)acfs	p.S153fs	AQP12A_ENST00000337801.4_Frame_Shift_Del_p.S141fs			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	141						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGAGCTGCAGCTCGGCCCTG	0.692													9	124	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723112	49723112	+	Frame_Shift_Del	DEL	T	T	-	rs11288337		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:49723112delT	ENST00000449682.2	-	11	1665	c.1304delA	c.(1303-1305)acfs	p.N435fs	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	421	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587													15	616	---	---	---	---					
RBM15B	29890	broad.mit.edu	37	3	51430738	51430738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:51430738delC	ENST00000323686.4	+	1	2008	c.1908delC	c.(1906-1908)cgfs	p.R636fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	636					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCGCAGCCGCAAGGAGAACC	0.632													80	111	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)ggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													14	2590	---	---	---	---					
UROC1	131669	broad.mit.edu	37	3	126220106	126220106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:126220106delT	ENST00000290868.2	-	10	973	c.920delA	c.(919-921)agfs	p.K307fs	UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGCACCTCCTTTTTTTTCCT	0.587													9	1433	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(640-645)gcggaafs	p.E215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													7	266	---	---	---	---					
AGTR1	185	broad.mit.edu	37	3	148459229	148459229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:148459229delC	ENST00000542281.1	+	4	853	c.407delC	c.(406-408)tcfs	p.S136fs	AGTR1_ENST00000418473.2_Frame_Shift_Del_p.S136fs|AGTR1_ENST00000402260.1_Frame_Shift_Del_p.S136fs|AGTR1_ENST00000349243.3_Frame_Shift_Del_p.S136fs|AGTR1_ENST00000497524.1_Frame_Shift_Del_p.S136fs|AGTR1_ENST00000404754.2_Frame_Shift_Del_p.S136fs|AGTR1_ENST00000475347.1_Frame_Shift_Del_p.S136fs|AGTR1_ENST00000474935.1_Frame_Shift_Del_p.S136fs|AGTR1_ENST00000461609.1_Frame_Shift_Del_p.S136fs	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	136					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCAATGAAGTCCCGCCTTCGA	0.488													81	193	---	---	---	---					
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													18	27	---	---	---	---					
SHOX2	6474	broad.mit.edu	37	3	157815841	157815841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:157815841delT	ENST00000490689.2	-	5	2081	c.548delA	c.(547-549)agfs	p.K183fs	SHOX2_ENST00000483851.2_Frame_Shift_Del_p.K312fs|SHOX2_ENST00000441443.2_Frame_Shift_Del_p.K183fs|SHOX2_ENST00000425436.3_Frame_Shift_Del_p.K324fs|SHOX2_ENST00000389589.4_Frame_Shift_Del_p.K348fs			O60902	SHOX2_HUMAN	short stature homeobox 2	324					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGGCGTGCTTTTTGGCTTT	0.677													8	3662	---	---	---	---					
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159482272	159482274	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:159482272_159482274delGCA	ENST00000337808.6	+	2	681_683	c.104_106delGCA	c.(103-108)ggc>g	p.GS35del	IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ-SCHIP1_ENST00000485419.1_In_Frame_Del_p.GS111del|IQCJ-SCHIP1_ENST00000412423.2_In_Frame_Del_p.GS35del|IQCJ-SCHIP1_ENST00000476809.1_In_Frame_Del_p.GS84del|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000460298.1_In_Frame_Del_p.GS8del	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		35	Ser-rich.					cytoplasm	identical protein binding|protein binding	p.S41delS(1)|p.S117delS(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGTGACGCCGgcagcagcagcag	0.635													7	184	---	---	---	---					
KLB	152831	broad.mit.edu	37	4	39448946	39448946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:39448946delG	ENST00000257408.4	+	4	2697	c.2600delG	c.(2599-2601)tgfs	p.W867fs		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	867	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGATTCCCTGGGGGGTGCGC	0.647													7	1394	---	---	---	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)del	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													9	278	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aagatgfs	p.M75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													10	539	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaa>ga	p.EE142del	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	142	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606													12	638	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)ccg>c	p.QP650del	MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	646	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586													9	232	---	---	---	---					
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:159091487_159091489delGCT	ENST00000393807.5	-	3	1327_1329	c.921_923delAGC	c.(919-924)gcg>gc	p.AA307del	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													7	397	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													7	359	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)gggcgg>ggGGCgcgg	p.21_22GR>GAR		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	549					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													13	75	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327900	16327901	+	In_Frame_Ins	INS	-	-	TGC	rs66949327		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:16327900_16327901insTGC	ENST00000244769.4	-	8	1577_1578	c.641_642insGCA	c.(640-642)cca>cGCAca	p.214_214P>RT	ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	214	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgatg	0.668													13	201	---	---	---	---					
RBM24	221662	broad.mit.edu	37	6	17292126	17292128	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:17292126_17292128delGCT	ENST00000379052.5	+	4	723_725	c.487_489delGCT	c.(487-489)del	p.A172del	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	172	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ATACTCAGCAgctgctgctgctg	0.606													9	756	---	---	---	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaa>ga	p.EE46del	DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML								8	630	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)caa>ca	p.QQ102del	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	102	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													15	336	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30865226	30865227	+	Frame_Shift_Del	DEL	GT	GT	-	rs149035593		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:30865226_30865227delGT	ENST00000324771.8	+	17	2616_2617	c.2068_2069delGT	c.(2068-2070)gfs	p.V690fs	DDR1_ENST00000376567.2_Frame_Shift_Del_p.V653fs|DDR1_ENST00000452441.1_Frame_Shift_Del_p.V690fs|DDR1_ENST00000376569.3_Frame_Shift_Del_p.V653fs|DDR1_ENST00000376570.4_Frame_Shift_Del_p.V653fs|DDR1_ENST00000454612.2_Frame_Shift_Del_p.V653fs|DDR1_ENST00000513240.1_Frame_Shift_Del_p.V696fs|DDR1_ENST00000376568.3_Frame_Shift_Del_p.V690fs|DDR1_ENST00000376575.3_Frame_Shift_Del_p.V696fs|DDR1_ENST00000418800.2_Frame_Shift_Del_p.V653fs|DDR1_ENST00000508312.1_Frame_Shift_Del_p.V671fs|DDR1_ENST00000361741.4_Frame_Shift_Del_p.V357fs|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	690	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GCTGCTGGGCGTGTGTGTGCAG	0.540													7	819	---	---	---	---					
PRRT1	80863	broad.mit.edu	37	6	32118562	32118564	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:32118562_32118564delGTG	ENST00000211413.5	-	2	263_265	c.139_141delCAC	c.(139-141)del	p.H47del	PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	47	Poly-His.			H -> Y (in Ref. 1; BAB70821).	response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						ACtgatggtagtggtggtggtgg	0.700													13	3002	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctc>ct	p.LC138del				Q99750	MDFI_HUMAN	MyoD family inhibitor	199					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													8	1062	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													10	2522	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)del	p.Q71del	RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729													7	767	---	---	---	---					
GSTA1	2938	broad.mit.edu	37	6	52664097	52664100	+	Splice_Site	DEL	TGAA	TGAA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:52664097_52664100delTGAA	ENST00000334575.5	-	2	126		c.e2-2			NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TCTCTAAGCCtgaatgaatgaatg	0.431													8	153	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													7	151	---	---	---	---					
IFNGR1	3459	broad.mit.edu	37	6	137519400	137519426	+	In_Frame_Del	DEL	TCAAAACCATTTCTGGAGTGATCACTC	TCAAAACCATTTCTGGAGTGATCACTC	-	rs146842669	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:137519400_137519426delTCAAAACCATTTCTGGAGTGATCACTC	ENST00000367739.4	-	7	1333_1359	c.1212_1238delGAGTGATCACTCCAGAAATGGTTTTGA	c.(1210-1239)gat>ga	p.ESDHSRNGFD404del	IFNGR1_ENST00000543628.1_In_Frame_Del_p.ESDHSRNGFD376del	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	404					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	p.H407H(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GGAATCAGTATCAAAACCATTTCTGGAGTGATCACTCTCAGAACAAT	0.401													32	19	---	---	---	---					
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)cag>ca	p.HQ32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596													11	681	---	---	---	---					
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)ggfs	p.R304fs	AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	304					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627													8	756	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871047	170871049	+	In_Frame_Del	DEL	CAG	CAG	-	rs10592951		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:170871047_170871049delCAG	ENST00000392092.2	+	3	502_504	c.223_225delCAG	c.(223-225)del	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcaacagcaacagcagcagcagc	0.571													10	180	---	---	---	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)del	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								9	680	---	---	---	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(334-339)ctttttfs	p.LF112fs	ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													19	1902	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs10951154	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)cac>ca	p.HR72del	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	72	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	644	---	---	---	---					
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:31378634_31378635insT	ENST00000297142.3	-	2	570_571	c.248_249insA	c.(247-249)aacfs	p.N83fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	83					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.520													10	1741	---	---	---	---					
C7orf25	79020	broad.mit.edu	37	7	42949523	42949524	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:42949523_42949524delCT	ENST00000350427.4	-	2	1251_1252	c.976_977delAG	c.(976-978)gfs	p.R326fs	C7orf25_ENST00000438029.1_Frame_Shift_Del_p.R326fs|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Frame_Shift_Del_p.R384fs|C7orf25_ENST00000447342.1_Frame_Shift_Del_p.R326fs			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	326								p.R326fs*6(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACAGTGGCCCTCTCTCTCTCC	0.455													11	1013	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													7	57	---	---	---	---					
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gtc>g	p.DV19del	STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586													14	1467	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccfs	p.P231fs	DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													12	2578	---	---	---	---					
POMZP3	22932	broad.mit.edu	37	7	76254896	76254898	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:76254896_76254898delTTC	ENST00000310842.4	-	3	852_854	c.168_170delGAA	c.(166-171)aaa>aa	p.KK56del	POMZP3_ENST00000275569.4_In_Frame_Del_p.KK56del|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	56	Poly-Lys.									kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CACTGTCCTTTTCTTCTTCTTCT	0.468													14	1891	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:100281686_100281688delGCT	ENST00000275732.5	-	15	3032_3034	c.1823_1825delAGC	c.(1822-1827)ctc>c	p.QL608del		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	608	Gln-rich.|Poly-Gln.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.690													9	485	---	---	---	---					
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)ccc>cc	p.PP293del		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	293	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567													8	541	---	---	---	---					
TRBV7-3	28595	broad.mit.edu	37	7	142247370	142247370	+	RNA	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142247370delT	ENST00000390361.3	-	0	135																											TGTGACCTTGTTACTGGGGGT	0.507													29	62	---	---	---	---					
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:156743209_156743211delGAG	ENST00000275820.3	+	1	793_795	c.778_780delGAG	c.(778-780)del	p.E264del		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552													10	511	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													8	1331	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124384901	124384902	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:124384901_124384902insA	ENST00000287394.5	-	3	452_453	c.345_346insT	c.(343-348)gaaaaafs	p.E115fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTTTTTTTTATCAGCCTGCT	0.282													52	133	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142517131	142517131	+	RNA	DEL	G	G	-	rs66486012		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:142517131delG	ENST00000430863.1	-	0	161					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GAGTACCGGTGGGGGGGGGTC	0.667													18	300	---	---	---	---					
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs113070757	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)del	p.Q238del	SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													8	223	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)del	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													16	295	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													9	49	---	---	---	---					
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:102590616_102590618delCAC	ENST00000330847.1	+	2	369_371	c.325_327delCAC	c.(325-327)del	p.H119del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								12	238	---	---	---	---					
AGPAT2	10555	broad.mit.edu	37	9	139581759	139581761	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:139581759_139581761delCAG	ENST00000371696.2	-	1	114_116	c.49_51delCTG	c.(49-51)del	p.L17del	AGPAT2_ENST00000538402.1_In_Frame_Del_p.L17del|AGPAT2_ENST00000371694.3_In_Frame_Del_p.L17del	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	17					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		Tcagctgcaccagcagcagcagc	0.744													8	822	---	---	---	---					
MAMDC4	158056	broad.mit.edu	37	9	139749473	139749474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:139749473_139749474insC	ENST00000445819.1	+	10	1158_1159	c.1108_1109insC	c.(1108-1110)cccfs	p.P370fs	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Frame_Shift_Ins_p.P370fs			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	370	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		cgccccccgggcccccgTCCTG	0.678													7	157	---	---	---	---					
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:140056884_140056886delGAG	ENST00000371561.3	+	13	2877_2879	c.1780_1782delGAG	c.(1780-1782)del	p.E598del	GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	598					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTGAACAGCGAGGAGGAGGAGG	0.739													8	275	---	---	---	---					
PHYH	5264	broad.mit.edu	37	10	13330486	13330488	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:13330486_13330488delCCT	ENST00000396920.3	-	6	903_905	c.499_501delAGG	c.(499-501)del	p.R167del	PHYH_ENST00000263038.4_In_Frame_Del_p.R184del|PHYH_ENST00000396913.2_In_Frame_Del_p.R84del			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	184					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GATCGCTGGGCCTGAAGGGGAAA	0.581													117	386	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	CGCCCCCCG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:13699134_13699142delCGCCCCCCG	ENST00000357447.2	-	22	2815_2823	c.2447_2455delCGGGGGGCG	c.(2446-2457)ggt>g	p.AGGG816del	FRMD4A_ENST00000378503.1_In_Frame_Del_p.AGGG816del|FRMD4A_ENST00000358621.4_In_Frame_Del_p.AGGG801del	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	816						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGTACACAccgccccccgcgccccccgc	0.761													16	63	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51580659	51580659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:51580659delA	ENST00000452682.1	+	4	545	c.293delA	c.(292-294)ggfs	p.E99fs	NCOA4_ENST00000443446.1_Frame_Shift_Del_p.E83fs|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000374087.4_Frame_Shift_Del_p.E83fs|NCOA4_ENST00000374082.1_Frame_Shift_Del_p.E83fs|NCOA4_ENST00000438493.1_Frame_Shift_Del_p.E99fs|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Frame_Shift_Del_p.R13fs|NCOA4_ENST00000344348.6_Frame_Shift_Del_p.E83fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	83					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAGCTTAAAGAGGAGACACTT	0.473			T	RET	papillary thyroid								152	405	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:55587198_55587200delGGC	ENST00000373965.2	-	33	4735_4737	c.4341_4343delGCC	c.(4339-4344)cct>cc	p.PP1449del	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1442					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			10	510	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													7	832	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													8	1199	---	---	---	---					
PDZD7	79955	broad.mit.edu	37	10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)gcfs	p.R56fs	PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium|nucleus	protein binding	p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667													11	1299	---	---	---	---					
KBTBD4	55709	broad.mit.edu	37	11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:47599139delA	ENST00000533290.1	-	1	1202	c.488delT	c.(487-489)tgfs	p.L163fs	KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517													8	1529	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59423460	59423460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:59423460delA	ENST00000300146.9	-	7	866	c.782delT	c.(781-783)ccfs	p.L261fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	261	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TGCTCTCTGGAGGGGGCTGAG	0.423													27	76	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62288902	62288902	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62288902delG	ENST00000378024.4	-	5	13261	c.12987delC	c.(12985-12987)ttfs	p.F4329fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4329					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTCTCCTTTGAATCCTGGCA	0.507													226	291	---	---	---	---					
SF1	7536	broad.mit.edu	37	11	64534435	64534437	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64534435_64534437delGCT	ENST00000377390.3	-	12	1854_1856	c.1517_1519delAGC	c.(1516-1521)cct>c	p.QP506del	SF1_ENST00000377387.1_In_Frame_Del_p.QP631del|SF1_ENST00000433274.2_In_Frame_Del_p.QP480del|SF1_ENST00000377394.3_In_Frame_Del_p.AA507del|SF1_ENST00000422298.2_In_Frame_Del_p.QP391del|SF1_ENST00000227503.9_In_Frame_Del_p.QP506del|SF1_ENST00000334944.5_In_Frame_Del_p.QP506del	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	506	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGTGGCGGAGGCTGCTGCTGCTG	0.660													7	1337	---	---	---	---					
P2RY2	5029	broad.mit.edu	37	11	72946202	72946203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:72946202_72946203insC	ENST00000311131.2	+	3	1465_1466	c.998_999insC	c.(997-999)ccgfs	p.P333fs	P2RY2_ENST00000393597.2_Frame_Shift_Ins_p.P333fs|P2RY2_ENST00000393596.2_Frame_Shift_Ins_p.P333fs	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	333					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACCCCGGCTCGCCGCAGGCTGG	0.649													7	542	---	---	---	---					
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)ccfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532													8	1295	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559126	56559127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56559126_56559127insG	ENST00000394023.3	-	27	3312_3313	c.3207_3208insC	c.(3205-3210)ccgggtfs	p.PG1069fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.PG1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.PG1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.PG1038fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1038	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGAACCCCTGGTGGGACTG	0.584													10	837	---	---	---	---					
TSFM	10102	broad.mit.edu	37	12	58177067	58177068	+	Splice_Site	DEL	GT	GT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:58177067_58177068delGT	ENST00000454289.3	+	2	444		c.e2+1		RP11-571M6.15_ENST00000471530.1_Splice_Site|TSFM_ENST00000350762.5_Splice_Site|TSFM_ENST00000323833.8_Splice_Site|TSFM_ENST00000550559.1_Splice_Site|RP11-571M6.15_ENST00000553083.1_Splice_Site|TSFM_ENST00000540550.1_Splice_Site|TSFM_ENST00000548851.1_Splice_Site|TSFM_ENST00000543727.1_Splice_Site|TSFM_ENST00000497617.1_Splice_Site	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial						regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCTCAAACAGGTGTGTGTGTGG	0.559													8	1172	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	932	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600860	112600860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:112600860delG	ENST00000550722.1	-	75	13063	c.12668delC	c.(12667-12669)cafs	p.P4223fs	HECTD4_ENST00000430131.2_Frame_Shift_Del_p.P3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.P4197fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGTGCCATCTGGGGGGGCGAT	0.627													9	1223	---	---	---	---					
VPS37B	79720	broad.mit.edu	37	12	123351892	123351892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:123351892delG	ENST00000267202.2	-	4	1010	c.629delC	c.(628-630)cafs	p.P213fs		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	213	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.P211fs*>76(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGGGGGTGGTGGGGGGGGGAT	0.716													10	228	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													6	6	---	---	---	---					
WBP4	11193	broad.mit.edu	37	13	41654830	41654830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:41654830delG	ENST00000379487.3	+	9	1205	c.805delG	c.(805-807)aafs	p.E269fs	WBP4_ENST00000542082.1_Frame_Shift_Del_p.E248fs	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	269					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AACACAGAAAGAAAAAAGTAT	0.308													7	249	---	---	---	---					
FAM155A	728215	broad.mit.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:108518337_108518338insC	ENST00000375915.2	-	1	745_746	c.607_608insG	c.(607-609)cggfs	p.R203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609													12	1196	---	---	---	---					
TRAV9-1	28678	broad.mit.edu	37	14	22279845	22279846	+	RNA	INS	-	-	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:22279845_22279846insT	ENST00000390431.3	+	0	46																											TAATTTGTTTATTTTTTTTTCA	0.406													2	4	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													10	915	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)afs	p.E1294fs	ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	341	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gct>gc	p.AA162del		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749													7	251	---	---	---	---					
CHGA	1113	broad.mit.edu	37	14	93397759	93397761	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:93397759_93397761delGAG	ENST00000216492.5	+	6	800_802	c.520_522delGAG	c.(520-522)del	p.E179del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	179					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGGggaggaagaggaggaggagg	0.665													9	305	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gga>g	p.EG89del	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													12	1233	---	---	---	---					
TNFAIP2	7127	broad.mit.edu	37	14	103599784	103599786	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:103599784_103599786delAGC	ENST00000560869.1	+	10	2270_2272	c.1631_1633delAGC	c.(1630-1635)gag>g	p.EQ544del	TNFAIP2_ENST00000538222.1_In_Frame_Del_p.EQ27del|TNFAIP2_ENST00000333007.1_In_Frame_Del_p.EQ544del|TNFAIP2_ENST00000451723.2_In_Frame_Del_p.EQ213del			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	544					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AAGACGGCCGAGCAGCAGCAGCA	0.626													9	752	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25456925	25456925	+	RNA	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:25456925delG	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGTGTGGGCAGGGGGGGTGCC	0.557													8	1109	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)cta>ct	p.LL16del	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													8	1188	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													7	419	---	---	---	---					
MESDC2	23184	broad.mit.edu	37	15	81281974	81281976	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:81281974_81281976delCTT	ENST00000261758.4	-	1	243_245	c.157_159delAAG	c.(157-159)del	p.K53del		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	53	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGAATATCCTTCTTCTTCTTC	0.655													7	889	---	---	---	---					
SV2B	9899	broad.mit.edu	37	15	91832791	91832792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:91832791_91832792insT	ENST00000394232.1	+	12	2219_2220	c.1749_1750insT	c.(1747-1752)ctttttfs	p.LF583fs	SV2B_ENST00000330276.4_Frame_Shift_Ins_p.LF583fs|SV2B_ENST00000545111.2_Frame_Shift_Ins_p.LF432fs	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	583					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCTTCTTCCTGTTTTTTGGCAA	0.520													7	2354	---	---	---	---					
BRICD5	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2260586_2260588delCAG	ENST00000328540.3	-	2	1231_1233	c.115_117delCTG	c.(115-117)del	p.L39del	BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CGGCcagcaccagcagcagcagc	0.660													7	383	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3778303	3778305	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3778303_3778305delGCT	ENST00000262367.5	-	31	7552_7554	c.6743_6745delAGC	c.(6742-6747)cgc>c	p.QR2248del	CREBBP_ENST00000382070.3_In_Frame_Del_p.QR2210del	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2248	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTGCATGCGCTGCTGCTGCTG	0.700			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						8	453	---	---	---	---					
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)cfs	p.V335fs		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		GAGTGAGCAGACACACTCGGGA	0.446													24	193	---	---	---	---					
NPIPB5	100132247	broad.mit.edu	37	16	22546050	22546051	+	In_Frame_Ins	INS	-	-	ATA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:22546050_22546051insATA	ENST00000424340.1	+	7	2025_2026	c.1746_1747insATA	c.(1744-1749)attctc>atATAtctc	p.582_583IL>IYL	NPIPB5_ENST00000517539.1_In_Frame_Ins_p.582_583IL>IYL|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		CTCAGCGGATGATCTCAAGACA	0.550													7	186	---	---	---	---					
USP31	57478	broad.mit.edu	37	16	23079694	23079695	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:23079694_23079695delAA	ENST00000219689.7	-	16	3730_3731	c.3731_3732delTT	c.(3730-3732)cfs	p.L1244fs	USP31_ENST00000567975.1_Frame_Shift_Del_p.L537fs	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGTCTTGCCAAGATCCGTCGA	0.545													526	1096	---	---	---	---					
UBFD1	56061	broad.mit.edu	37	16	23569076	23569076	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:23569076delG	ENST00000395878.3	+	1	394	c.13delG	c.(13-15)ggfs	p.G5fs	UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Frame_Shift_Del_p.G229fs|UBFD1_ENST00000567264.1_Frame_Shift_Del_p.G5fs|UBFD1_ENST00000567212.1_Intron	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	5										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGCGGCGGCCGGGGCCCCGGA	0.731													10	35	---	---	---	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)del	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													21	809	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)del	p.E91del	COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													8	1141	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													10	451	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													18	772	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													11	577	---	---	---	---					
MBTPS1	8720	broad.mit.edu	37	16	84103645	84103646	+	Splice_Site	INS	-	-	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:84103645_84103646insA	ENST00000343411.3	-	14	2278		c.e14-2			NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATTTTTTGACTAAAAAAAAAGA	0.366													11	480	---	---	---	---					
TUBB8P7	197331	broad.mit.edu	37	16	90161966	90161966	+	RNA	DEL	T	T	-	rs56265310		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:90161966delT	ENST00000567960.1	+	0	702				TUBB8P7_ENST00000564451.1_RNA																							CTACCATGAGTTGGGGTCACC	0.542													10	296	---	---	---	---					
LRRC37BP1	147172	broad.mit.edu	37	17	28960997	28960998	+	RNA	INS	-	-	C	rs112120912		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:28960997_28960998insC	ENST00000417404.1	+	0	1269				LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA																							ttttcttttttttttttttttt	0.297													16	91	---	---	---	---					
GGNBP2	79893	broad.mit.edu	37	17	34943645	34943645	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:34943645delA	ENST00000304718.4	+	13	2176	c.1860delA	c.(1858-1860)ggfs	p.G620fs		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	620					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCGATTCCGGAAAAGGTGCCA	0.468													8	1967	---	---	---	---					
CSF3	1440	broad.mit.edu	37	17	38172769	38172769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38172769delT	ENST00000331769.2	+	3	539	c.323delT	c.(322-324)ctfs	p.L108fs	CSF3_ENST00000225474.2_Frame_Shift_Del_p.L115fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	115					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CATAGCGGCCTTTTCCTCTAC	0.627													7	1985	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													17	313	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													21	126	---	---	---	---					
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:48940610_48940612delGTG	ENST00000499247.2	-	2	1200_1202	c.767_769delCAC	c.(766-771)cag>c	p.PQ256del	TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517													10	483	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													8	1123	---	---	---	---					
CDC42EP4	23580	broad.mit.edu	37	17	71281585	71281587	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:71281585_71281587delTCC	ENST00000335793.3	-	2	1447_1449	c.1053_1055delGGA	c.(1051-1056)gat>ga	p.ED351del	CDC42EP4_ENST00000581014.1_3'UTR|CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	351					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGGATTTCATCCTCCTCCTCCT	0.640													7	1014	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)del	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704													7	152	---	---	---	---					
SGSH	6448	broad.mit.edu	37	17	78184301	78184301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:78184301delG	ENST00000326317.6	-	8	1545	c.1459delC	c.(1459-1461)tgfs	p.L487fs	SGSH_ENST00000534910.1_Frame_Shift_Del_p.L284fs	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	487					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTCTCCTCCAGGACGCCGTCG	0.652													105	197	---	---	---	---					
KLHL14	57565	broad.mit.edu	37	18	30350137	30350161	+	Frame_Shift_Del	DEL	CGAGCACCAGGCGCAGCCCGATGGA	CGAGCACCAGGCGCAGCCCGATGGA	-	rs139808282		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:30350137_30350161delCGAGCACCAGGCGCAGCCCGATGGA	ENST00000359358.4	-	2	832_856	c.394_418delTCCATCGGGCTGCGCCTGGTGCTCG	c.(394-420)agfs	p.SIGLRLVLE132fs	KLHL14_ENST00000358095.4_Frame_Shift_Del_p.SIGLRLVLE132fs|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	132	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TAGAGGTACTCGAGCACCAGGCGCAGCCCGATGGACGAGCAGCCC	0.662													102	1120	---	---	---	---					
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:55103477_55103479delCAC	ENST00000491143.2	+	1	561_563	c.529_531delCAC	c.(529-531)del	p.H184del		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	184	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ccaccatccgcaccaccaccacc	0.655													8	143	---	---	---	---					
SBNO2	22904	broad.mit.edu	37	19	1108827	1108829	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:1108827_1108829delGCT	ENST00000361757.3	-	31	3802_3804	c.3565_3567delAGC	c.(3565-3567)del	p.S1189del	SBNO2_ENST00000438103.2_In_Frame_Del_p.S1132del|SBNO2_ENST00000587024.1_In_Frame_Del_p.S1179del	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1189					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCAGGTAGCTGCTGCTGCTG	0.724													7	312	---	---	---	---					
UHRF1	29128	broad.mit.edu	37	19	4929125	4929125	+	RNA	DEL	C	C	-	rs66904189		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:4929125delC	ENST00000592666.1	+	0	729							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ATGCAGATTGCCCCCCCCCCA	0.607													19	226	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)tgfs	p.M718fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													13	1172	---	---	---	---					
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													15	608	---	---	---	---					
ELAVL3	1995	broad.mit.edu	37	19	11577605	11577605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11577605delC	ENST00000359227.3	-	2	471	c.47delG	c.(46-48)gcfs	p.G16fs	CTC-398G3.6_ENST00000585656.1_Frame_Shift_Del_p.G170fs|ELAVL3_ENST00000438662.2_Frame_Shift_Del_p.G16fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						gccggccgggcccccccccAC	0.652													8	166	---	---	---	---					
SLC27A1	376497	broad.mit.edu	37	19	17599665	17599683	+	Frame_Shift_Del	DEL	GCATGGCAGCCTTCGGCCA	GCATGGCAGCCTTCGGCCA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17599665_17599683delGCATGGCAGCCTTCGGCCA	ENST00000252595.7	+	5	900_918	c.803_821delGCATGGCAGCCTTCGGCCA	c.(802-822)ccfs	p.RMAAFGH268fs	SLC27A1_ENST00000598424.1_Frame_Shift_Del_p.RMAAFGH89fs|SLC27A1_ENST00000442725.1_Frame_Shift_Del_p.RMAAFGH268fs	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	268	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGTACTACCGCATGGCAGCCTTCGGCCACCACGCCTAC	0.662													39	220	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													10	239	---	---	---	---					
ZNF283	284349	broad.mit.edu	37	19	44351735	44351735	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:44351735delT	ENST00000324461.7	+	7	1279	c.982delT	c.(982-984)ttfs	p.F329fs	ZNF283_ENST00000588797.1_Frame_Shift_Del_p.F190fs	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGGGAAGGCCTTTTTTTGGGG	0.408													7	328	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45349842	45349844	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:45349842_45349844delGCT	ENST00000252483.5	+	1	60_62	c.60_62delGCT	c.(58-63)ccg>cc	p.PL20del	PVRL2_ENST00000252485.4_In_Frame_Del_p.PL20del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	20					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		tgctgtggccgctgctgctgctg	0.759													8	557	---	---	---	---					
PTH2	113091	broad.mit.edu	37	19	49926531	49926533	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49926531_49926533delCAG	ENST00000270631.1	-	1	165_167	c.64_66delCTG	c.(64-66)del	p.L22del		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		AGGGCACCACcagcagcagcagc	0.690													13	382	---	---	---	---					
ZNF761	388561	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													7	10	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													9	815	---	---	---	---					
SYT5	6861	broad.mit.edu	37	19	55685979	55685979	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:55685979delT	ENST00000354308.3	-	8	1235	c.866delA	c.(865-867)agfs	p.K289fs	SYT5_ENST00000537500.1_Frame_Shift_Del_p.K289fs|SYT5_ENST00000590851.1_Frame_Shift_Del_p.K285fs|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	289	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTTCCGCACCTTTTTGCCGCC	0.527													9	1642	---	---	---	---					
ZFP28	140612	broad.mit.edu	37	19	57050569	57050570	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:57050569_57050570insG	ENST00000301318.3	+	1	253_254	c.182_183insG	c.(181-183)ggcfs	p.G61fs	ZFP28_ENST00000591844.1_Frame_Shift_Ins_p.G61fs|ZFP28_ENST00000594386.1_3'UTR	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CAGCGAGGAGCGGCCCCTACGG	0.673													9	127	---	---	---	---					
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:58084579delA	ENST00000196489.3	-	4	915	c.693delT	c.(691-693)ttfs	p.F231fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453													8	1243	---	---	---	---					
CD93	22918	broad.mit.edu	37	20	23066789	23066791	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:23066789_23066791delAGC	ENST00000246006.4	-	1	186_188	c.39_41delGCT	c.(37-42)ctc>ct	p.LL13del		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	13					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGTcaggagcagcagcagca	0.709													7	96	---	---	---	---					
ZNF217	7764	broad.mit.edu	37	20	52198641	52198642	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:52198641_52198642insT	ENST00000371471.2	-	2	1149_1150	c.724_725insA	c.(724-726)tgcfs	p.C242fs	ZNF217_ENST00000302342.3_Frame_Shift_Ins_p.C242fs			O75362	ZN217_HUMAN	zinc finger protein 217	242					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACCGAAAGCAGTTTTTTTGGTG	0.480													7	1355	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)del	p.Q188del	MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	172	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)del	p.Q218del	MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	251	---	---	---	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:29445819_29445821delCAG	ENST00000544604.2	+	8	1825_1827	c.1650_1652delCAG	c.(1648-1653)gac>ga	p.DS550del	ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	550						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													11	454	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcc>g	p.AS440del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	440					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													14	743	---	---	---	---					
FAM109B	150368	broad.mit.edu	37	22	42473377	42473377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42473377delG	ENST00000321753.3	+	3	267	c.80delG	c.(79-81)tgfs	p.W27fs		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	27	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CTGCGCACCTGGGGGGGCCCA	0.632													7	1160	---	---	---	---					
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)del	p.D107del	SMDT1_ENST00000547929.1_Intron	NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		TGTTCCAGAGGATGATGATGATG	0.478													18	1241	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)caa>ca	p.QQ178del	TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													10	407	---	---	---	---					
BRD1	23774	broad.mit.edu	37	22	50216671	50216671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:50216671delT	ENST00000216267.8	-	1	1781	c.1295delA	c.(1294-1296)agfs	p.K432fs	BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000542442.1_Frame_Shift_Del_p.K71fs|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404034.1_Frame_Shift_Del_p.K432fs|BRD1_ENST00000457780.2_Frame_Shift_Del_p.K432fs|BRD1_ENST00000404760.1_Frame_Shift_Del_p.K432fs	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	432					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTTCTTAGCCTTTTTTGCCTT	0.517													7	2011	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	112					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.660													8	152	---	---	---	---					
PQBP1	10084	broad.mit.edu	37	X	48759668	48759669	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:48759668_48759669delAG	ENST00000218224.4	+	4	705_706	c.451_452delAG	c.(451-453)afs	p.R151fs	PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000396763.1_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000447146.2_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376563.1_Frame_Shift_Del_p.R151fs	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	151	7 X 2 AA tandem repeats of [DE]-R.|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAGGTAGACAGAGAGAGAGAG	0.619													9	182	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	251	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													13	690	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													7	1179	---	---	---	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:152087570_152087572delGAG	ENST00000535861.1	+	7	523_525	c.475_477delGAG	c.(475-477)del	p.E165del	ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													8	205	---	---	---	---					
