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
GRIN2B	2904	broad.mit.edu	37	12	13715749	13715749	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr12:13715749C>T	ENST00000279593.3	-	13	4632	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1475					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAAGTTTCTCATAAACATGC	0.498000													13	109					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101009860	101009860	+	Silent	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:101009860C>T	ENST00000264249.3	-	7	1303	c.918G>A	c.(916-918)ccG>ccA	p.P306P	CHST10_ENST00000542617.1_Silent_p.P354P|CHST10_ENST00000409701.1_Silent_p.P306P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	306					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGGGATAGTCGGGTATGACA	0.522000													8	89					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45901546	45901546	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:45901546C>T	ENST00000418234.2	-	2	109	c.31G>A	c.(31-33)Gac>Aac	p.D11N	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D11N	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	11					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCCAGAAAGTCCCGCGCGCTC	0.706000													5	32					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075408	67075408	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:67075408G>C	ENST00000308127.4	+	8	1061	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	SSH3_ENST00000376757.5_Missense_Mutation_p.E295Q|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	295					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACTTCCAAAGAGGTGGGCAG	0.617000													4	34					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109560177	109560177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560177G>A	ENST00000369965.4	-	3	465	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	69	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCTAGAGGCTGAATGAACTGA	0.308000													5	49					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578758	9578758	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:9578758C>G	ENST00000301480.4	-	10	1078	c.865G>C	c.(865-867)Gat>Cat	p.D289H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D289Y(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGGATTTATCTTGTGTACAC	0.383000													8	80					0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144371	65144371	+	Silent	SNP	C	C	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65144371C>A	ENST00000417511.2	-	9	1524	c.390G>T	c.(388-390)ctG>ctT	p.L130L	SLC25A45_ENST00000526432.1_Silent_p.L110L|SLC25A45_ENST00000294187.6_Silent_p.L130L|SLC25A45_ENST00000398802.1_Silent_p.L172L|SLC25A45_ENST00000360662.3_Silent_p.L148L|SLC25A45_ENST00000534028.1_Silent_p.L148L|SLC25A45_ENST00000377152.2_Silent_p.L68L|SLC25A45_ENST00000527174.1_Silent_p.L172L	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	172					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GGGTGTCCCTCAGCGTCAGGG	0.652000													20	124					1.01871e-10	1.08897e-10	1	1	0
STT3A	3703	broad.mit.edu	37	11	125490695	125490695	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:125490695C>T	ENST00000392708.4	+	18	2267	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	STT3A_ENST00000531491.1_Missense_Mutation_p.S611L|STT3A_ENST00000529196.1_Missense_Mutation_p.S703L|STT3A_ENST00000526364.1_Intron	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	703					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CGAGGCTTGTCAAGGACATAA	0.338000													4	37					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37334481	37334481	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:37334481C>T	ENST00000233057.4	-	17	1913	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E490K|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E531K	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	531	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTAGTATTTCAGATGTGTTA	0.383000													4	58					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962127	151962127	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:151962127A>T	ENST00000355193.2	-	8	1398	c.1180T>A	c.(1180-1182)Tgc>Agc	p.C394S	KMT2C_ENST00000262189.6_Missense_Mutation_p.C394S					lysine (K)-specific methyltransferase 2C																		ACTTACTTGCAGTTCTGGCAC	0.408000													11	253					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149677884	149677884	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:149677884G>A	ENST00000344229.3	+	10	1444	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RNF13_ENST00000361785.6_Missense_Mutation_p.E129K|RNF13_ENST00000392894.3_Missense_Mutation_p.E248K	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	248					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGATGAGTATGAAGATGGAGA	0.323000													14	116					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176852036	176852036	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:176852036G>A	ENST00000367654.2	-	20	3358	c.3345C>T	c.(3343-3345)atC>atT	p.I1115I	ASTN1_ENST00000367657.3_Silent_p.I1107I|ASTN1_ENST00000361833.2_Silent_p.I1107I|ASTN1_ENST00000424564.2_Silent_p.I1107I			O14525	ASTN1_HUMAN	astrotactin 1	1115	Fibronectin type-III 1.				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						TGATCAGAGAGATGGTGGTGA	0.507000													7	46					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924339	105924339	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:105924339G>A	ENST00000393359.2	-	2	846	c.420C>T	c.(418-420)atC>atT	p.I140I	TGFBRAP1_ENST00000258449.1_Silent_p.I140I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	140	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGACAGAGATGATGCAAACTT	0.592000													26	131					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962284	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr4:69962284T>A	ENST00000305231.7	+	1	92	c.46T>A	c.(46-48)Ttt>Att	p.F16I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.F16I	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAACTGAGCTTTTGCTTTAG	0.418000													33	67					0	0	1	0	0
IDI2	91734	broad.mit.edu	37	10	1070568	1070568	+	Silent	SNP	A	A	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:1070568A>G	ENST00000277517.1	-	2	160	c.96T>C	c.(94-96)ggT>ggC	p.G32G	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	32					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TGGTGTCGGCACCAATAACCT	0.473000													18	41					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													5	21					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:215844402C>G	ENST00000366943.2	-	64	14431	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T	USH2A_ENST00000307340.3_Missense_Mutation_p.R4682T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4682	Fibronectin type-III 32.				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)		ATTGGATTTTCTAGGCTGAGT	0.388000										HNSCC(13;0.011)			10	106					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109560186	109560186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560186G>A	ENST00000369965.4	-	3	456	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	66	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAATGAACTGAAGAACTTCA	0.308000													4	48					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203192	41203192	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:41203192G>T	ENST00000263413.3	-	2	405	c.141C>A	c.(139-141)caC>caA	p.H47Q	C6_ENST00000337836.5_Missense_Mutation_p.H47Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	47	TSP type-1 1.				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)				ACACCCACCTGTGTCTGCTCT	0.483000													25	164					6.36457e-07	6.46891e-07	1	1	0
ZNF165	7718	broad.mit.edu	37	6	28056396	28056396	+	Silent	SNP	T	T	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr6:28056396T>C	ENST00000377325.1	+	4	1162	c.606T>C	c.(604-606)atT>atC	p.I202I		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	202					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGAAAAAATTGAATCACAGA	0.363000													33	74					0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81318681	81318681	+	Missense_Mutation	SNP	G	G	A	rs150273659	byFrequency	TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:81318681G>A	ENST00000372325.2	-	4	337	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	85	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTCTCTCCACGCTCTCCAGGG	0.627000									Pulmonary Fibrosis, Idiopathic				8	137					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907290	11907290	+	Silent	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:11907290G>T	ENST00000376480.3	-	2	428	c.330C>A	c.(328-330)ctC>ctA	p.L110L	NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Silent_p.L60L	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	110					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTTTTAGGAGGGCAGATC	0.667000													7	127					0.00198382	0.00198382	1	1	0
POM121L9P	0	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													5	21					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48826312	48826312	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:48826312C>T	ENST00000316623.5	-	8	1282	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	276	EGF-like 4; 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)		AAGTTTGTGTCCAGCAGGGCA	0.453000													45	282					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67013890	67013890	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67013890C>G	ENST00000340001.4	-	21	3019	c.2808G>C	c.(2806-2808)caG>caC	p.Q936H	ABCA9_ENST00000370732.2_Missense_Mutation_p.Q936H|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q936H|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	936					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)					TAGCTATGTTCTGTCGCCTCA	0.368000													21	181					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909178	52909178	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:52909178G>T	ENST00000391788.2	+	5	527	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	ZNF528_ENST00000598192.1_Missense_Mutation_p.D12Y|ZNF528_ENST00000360465.3_Missense_Mutation_p.D12Y|ZNF528_ENST00000594530.1_Missense_Mutation_p.D12Y			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458000													16	137					4.7546e-09	4.91309e-09	1	1	0
WDR33	55339	broad.mit.edu	37	2	128467330	128467330	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:128467330C>T	ENST00000322313.4	-	19	3567	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1137					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)		TCAGAAGCATCAAAATTCTCC	0.577000													7	131					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34618286	34618286	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:34618286G>C	ENST00000373973.3	+	12	1620	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.D479H					cyclic nucleotide binding domain containing 2																		TAGTGATGAAGATATGTGCCA	0.567000													10	88					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140004	104140004	+	Splice_Site	SNP	A	A	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:104140004A>C	ENST00000369983.3	+	37	5135		c.e37-1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGTGGGCCATAGGTCTTCCTG	0.572000													19	57					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169168	50169168	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:50169168G>A	ENST00000246785.3	+	1	346	c.88G>A	c.(88-90)Gag>Aag	p.E30K	BCL2L12_ENST00000441864.2_Missense_Mutation_p.E30K|BCL2L12_ENST00000246784.3_Missense_Mutation_p.E30K	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	30					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)		CATGCAAATTGAGCGTGCACC	0.602000													14	26					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96349489	96349489	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:96349489G>A	ENST00000231368.5	+	12	2865	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	LNPEP_ENST00000395770.3_Missense_Mutation_p.D711N	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	725					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTCTGAGTGACAAAGACCG	0.328000													19	118					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78213892	78213892	+	RNA	SNP	C	C	T	rs143825504	by1000genomes	TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:78213892C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTCGAAGTGTCGGGCAGCACG	0.493000													8	93					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234528271	234528271	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:234528271G>C	ENST00000040877.1	-	29	4587	c.4588C>G	c.(4588-4590)Ctg>Gtg	p.L1530V	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1530					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.L1530V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTCTGCTGCAGATAATCAATT	0.348000													18	85					0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129318340	129318340	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:129318340G>T	ENST00000257017.4	+	2	754	c.340G>T	c.(340-342)Gtc>Ttc	p.V114F		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	114					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						ACATGCCGTGGTCTTCGTCTA	0.502000													16	47					6.72482e-11	7.31472e-11	1	1	0
LRRC19	64922	broad.mit.edu	37	9	26995683	26995683	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr9:26995683C>G	ENST00000380055.5	-	5	1059	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q	IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	317						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343000													8	60					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22675710	22675710	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:22675710G>C	ENST00000376603.2	+	5	870	c.728G>C	c.(727-729)gGa>gCa	p.G243A	SPAG6_ENST00000538630.1_Missense_Mutation_p.G142A|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.G167A|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000313311.6_Missense_Mutation_p.G167A			O75602	SPAG6_HUMAN	sperm associated antigen 6	167					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						GTGGATGCAGGAGCTGTTCCT	0.463000													4	72					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51276303	51276303	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:51276303C>T	ENST00000261842.5	+	16	2157	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L	AP4E1_ENST00000560508.1_Missense_Mutation_p.S609L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	684					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)		TCTCTTGGTTCAGATGTATCT	0.383000													6	81					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:50129291G>A	ENST00000046087.2	-	2	211	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	48					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284000													3	22					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522886	48522886	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:48522886G>A	ENST00000422556.1	-	3	1182	c.833C>T	c.(832-834)cCt>cTt	p.P278L	SPATA2_ENST00000289431.5_Missense_Mutation_p.P278L|SPATA2_ENST00000543716.1_Missense_Mutation_p.P141L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	278					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGTTGCCACAGGCTCCTTCCG	0.637000													8	76					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18970621	18970621	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:18970621C>T	ENST00000379942.4	-	3	941	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	92					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCTGTCTCATCATGCACTGGA	0.478000													6	58					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184648	153184648	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:153184648G>A	ENST00000370028.3	-	7	948	c.891C>T	c.(889-891)gtC>gtT	p.V297V	ARHGAP4_ENST00000350060.5_Silent_p.V257V|ARHGAP4_ENST00000370016.1_Silent_p.V236V|ARHGAP4_ENST00000537206.1_Silent_p.V234V|ARHGAP4_ENST00000393721.1_Intron	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	257					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTTACTGACAGCAGCGT	0.572000													9	76					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67261047	67261047	+	Splice_Site	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67261047C>G	ENST00000392676.3	-	24	3209		c.e24-1		ABCA5_ENST00000588877.1_Splice_Site|ABCA5_ENST00000392677.2_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAGCTTTGATCTAAAAAAAAT	0.259000													4	44					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52393384	52393384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:52393384delC	ENST00000420323.2	+	26	4650	c.4389delC	c.(4387-4389)ttfs	p.F1463fs		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1463	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCAACTGTTCCCCCAGCTCT	0.637													2	4	---	---	---	---					
PACS1	55690	broad.mit.edu	37	11	65838203	65838203	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65838203delG	ENST00000320580.4	+	1	279	c.246delG	c.(244-246)tcfs	p.S82fs		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	82	Ser-rich.				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						CGGTGGCCTCGGGCTCCGCGC	0.741													2	4	---	---	---	---					
SYT5	6861	broad.mit.edu	37	19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)ccfs	p.P29fs	SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					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)		CCAGGGCCCAGGGGGGCACTG	0.602													2	4	---	---	---	---