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
TGFBI	7045	broad.mit.edu	37	5	135382985	135382985	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr5:135382985G>A	ENST00000442011.2	+	6	808	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	TGFBI_ENST00000305126.8_Missense_Mutation_p.R216Q	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	216	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACTGTGCCCGGCTGCTGAAA	0.532000													21	78					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41939481	41939481	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:41939481C>T	ENST00000221943.9	-	4	399	c.394G>A	c.(394-396)Ggt>Agt	p.G132S	ATP5SL_ENST00000417807.3_Missense_Mutation_p.G138S|ATP5SL_ENST00000590641.2_Missense_Mutation_p.G111S|ATP5SL_ENST00000438807.3_Missense_Mutation_p.G105S|ATP5SL_ENST00000592922.2_Missense_Mutation_p.G105S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G132S|ATP5SL_ENST00000301183.11_Missense_Mutation_p.G138S|ATP5SL_ENST00000597457.1_Missense_Mutation_p.G105S	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	132										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TCACAGTCACCGGCATCCACA	0.537000													44	114					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198678866	198678866	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:198678866G>A	ENST00000367376.2	+	11	1249	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	PTPRC_ENST00000442510.2_Missense_Mutation_p.E362K|PTPRC_ENST00000594404.1_Missense_Mutation_p.E199K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E312K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E201K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	360					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E360K(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTTGAACCCGAACATGAGTA	0.279000													4	121					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	rs138713047	by1000genomes	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W|DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587000													4	117					0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66770010	66770010	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:66770010G>A	ENST00000258198.2	-	5	873	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	DYNC1LI2_ENST00000443351.2_Silent_p.L146L|DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	223					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGGATCCCCAGGTTATGAGTC	0.552000													4	50					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36213342	36213342	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:36213342G>A	ENST00000222270.7	+	4	2539	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E847K	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GTCTGAAGATGAGTCGGTGGA	0.637000													6	18					0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74881976	74881976	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:74881976A>C	ENST00000357321.4	+	4	385	c.267A>C	c.(265-267)agA>agC	p.R89S	NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	89							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ATGCACAAAGAATAGAAGATT	0.433000													5	129					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231337222	231337222	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:231337222A>C	ENST00000444294.3	+	5	2351	c.1493A>C	c.(1492-1494)cAg>cCg	p.Q498P	TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000366653.5_Missense_Mutation_p.Q498P	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	498	COS.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCGCTGCTGCAGGCCATCCAC	0.572000													5	19					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746501	37746501	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:37746501G>A	ENST00000539465.1	+	16	5065	c.4472G>A	c.(4471-4473)cGt>cAt	p.R1491H	FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1491H|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1491						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)		GGGGCCGTGCGTGACACCTTC	0.657000													6	30					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122848488	122848488	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:122848488C>A	ENST00000343035.2	-	3	619	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	191										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCCTCTGAACCGCGGGGGCTG	0.657000													10	25					4.68919e-08	4.9497e-08	1	1	0
LILRB5	0	broad.mit.edu	37	19	54760375	54760375	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:54760375T>A	ENST00000450632.1	-	3	409	c.332A>T	c.(331-333)gAc>gTc	p.D111V	LILRB5_ENST00000316219.5_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V|LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	111	Ig-like C2-type 1.|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)		CTCCAGGGGGTCACTGGGCTC	0.622000													32	93					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116066820	116066820	+	Silent	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066820G>T	ENST00000410059.1	+	2	546	c.66G>T	c.(64-66)ctG>ctT	p.L22L	DPP10_ENST00000393147.2_Silent_p.L26L|DPP10_ENST00000310323.8_Silent_p.L15L|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	22	Mediates effects on KCND2.				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						GGTAGGAACTGGGAAGTAACA	0.393000													14	32					7.93312e-07	8.2216e-07	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33132638	33132638	+	Silent	SNP	G	G	A	rs151319255		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr6:33132638G>A	ENST00000341947.2	-	64	5081	c.4854C>T	c.(4852-4854)gaC>gaT	p.D1618D	COL11A2_ENST00000361917.1_Silent_p.D1511D|COL11A2_ENST00000374708.4_Silent_p.D1532D|COL11A2_ENST00000374712.1_Silent_p.D1537D|COL11A2_ENST00000374714.1_Silent_p.D1592D|COL11A2_ENST00000395197.1_Silent_p.D1558D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000357486.1_Silent_p.D1597D|COL11A2_ENST00000374713.1_Silent_p.D1571D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1618	Fibrillar collagen NC1.				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	p.D1618D(1)|p.D1618E(1)		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						CCTGCGTGACGTCATCCCTAG	0.622000													3	9					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504838	18504838	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:18504838C>T	ENST00000380548.4	+	2	414	c.75C>T	c.(73-75)acC>acT	p.T25T	ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	25						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)		GTTCCAGGACCGCACGCTCCG	0.577000													5	81					0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47493029	47493029	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:47493029A>G	ENST00000320640.6	-	2	494	c.266T>C	c.(265-267)gTa>gCa	p.V89A	ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	89						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGATACCTTTACTTTGGGTTT	0.274000													14	57					0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065748	49065748	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:49065748C>T	ENST00000326739.4	-	4	296	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	86					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GCCAATACCGCCTGTAAGCTA	0.493000													8	61					0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100572509	100572509	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:100572509T>A	ENST00000287482.5	-	12	1507	c.1367A>T	c.(1366-1368)aAa>aTa	p.K456I	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.K289I	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	456					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTCTTCAAGTTTTTTAACTGT	0.249000													8	30					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302800	123302800	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:123302800C>A	ENST00000458573.2	+	2	1317	c.1160C>A	c.(1159-1161)tCt>tAt	p.S387Y	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	387	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding										ACACCTAGCTCTTCACCTTAT	0.512000													31	79					5.60225e-13	6.14093e-13	1	1	0
MOV10	4343	broad.mit.edu	37	1	113235477	113235477	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:113235477C>T	ENST00000369644.1	+	8	1927	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	MOV10_ENST00000357443.2_Missense_Mutation_p.R356W|MOV10_ENST00000369645.1_Missense_Mutation_p.R356W|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.R356W			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	356					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCATGATATCCGGCACTATGA	0.602000													6	14					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73007695	73007695	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:73007695T>A	ENST00000268057.4	+	5	325	c.284T>A	c.(283-285)gTt>gAt	p.V95D	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	95					adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACATGTGCAGTTCTTAGTCCT	0.433000									Bardet-Biedl syndrome				16	33					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471673	103471673	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:103471673C>T	ENST00000358392.2	-	17	2095	c.1778G>A	c.(1777-1779)cGt>cAt	p.R593H	COL11A1_ENST00000353414.4_Missense_Mutation_p.R542H|COL11A1_ENST00000370096.3_Missense_Mutation_p.R581H|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.R465H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	581	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCACCTGGACGACCCTAATA	0.373000													7	65					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20078087	20078087	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:20078087A>G	ENST00000540292.1	+	22	4705	c.4705A>G	c.(4705-4707)Aaa>Gaa	p.K1569E	NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.K1638E|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.K1567E			Q8IVL1	NAV2_HUMAN	neuron navigator 2	1638	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATCATGGGAGAAAAGTTCTGT	0.383000													15	49					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3293175	3293175	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:3293175G>A	ENST00000382004.3	-	7	944	c.633C>T	c.(631-633)caC>caT	p.H211H	RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	211					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTTCCTGACAGTGTCGAAGGT	0.463000													5	80					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698504	43698504	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:43698504C>T	ENST00000405312.3	-	5	1468	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	PSG4_ENST00000244295.9_Missense_Mutation_p.V318I|PSG4_ENST00000433626.2_Missense_Mutation_p.V318I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	411					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GAGACTTTGACTGTGATGGAT	0.453000													76	210					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412284	43412284	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr21:43412284G>A	ENST00000310826.5	-	3	2104	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R641C|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R641C	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		GGCTTGCCGCGCCTTAACTTA	0.433000													4	104					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811726	7811726	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:7811726A>G	ENST00000381059.3	+	3	509	c.290A>G	c.(289-291)gAg>gGg	p.E97G	VCX_ENST00000341408.4_Missense_Mutation_p.E97G	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	97	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCAGTGAGCGAGGGGACCCAG	0.697000													4	79					0	0	1	0	0
MIR329-1	0	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr14:101493161A>T	ENST00000385028.1	+	0	40					NR_029967.1																						TGTTTCTTTAATGAGGACGAA	0.468000													4	205					0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54627954	54627954	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:54627954G>A	ENST00000321030.4	+	8	1123	c.774G>A	c.(772-774)acG>acA	p.T258T	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.T258T|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Silent_p.T258T	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	258	Nop.				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)					AGCGCAAGACGCTGTCGGGCT	0.652000													14	34					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651127	75651127	+	Missense_Mutation	SNP	C	C	T	rs140277288	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:75651127C>T	ENST00000565683.1	-	19	2226	c.2215G>A	c.(2215-2217)Gtg>Atg	p.V739M	MAN2C1_ENST00000267978.5_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	722					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGTTCCCCACGGCGCCCTCA	0.572000													3	41					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604621	58604621	+	Silent	SNP	T	T	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:58604621T>G	ENST00000287275.1	-	5	733	c.343A>C	c.(343-345)Aga>Cga	p.R115R	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.R115R	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	115						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCAACCTTTCTTATTGCTTCA	0.398000													42	86					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629378	51629378	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:51629378C>T	ENST00000440804.3	+	3	808	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SIGLEC9_ENST00000250360.3_Silent_p.D247D	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	247	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597000													15	67					0	0	1	0	0
PACSIN1	0	broad.mit.edu	37	6	34499460	34499460	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr6:34499460C>A	ENST00000538621.1	+	9	1366	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	374					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGCAGTGAGACCAACGGGGGC	0.627000													13	148					9.05144e-12	9.73457e-12	1	1	0
TTLL12	23170	broad.mit.edu	37	22	43576901	43576901	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr22:43576901C>T	ENST00000216129.6	-	3	456	c.393G>A	c.(391-393)gcG>gcA	p.A131A		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	131					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTGCTGGCGCGCGTGCTCCA	0.667000													4	69					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637533	45637533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:45637533C>T	ENST00000273317.4	+	1	1183	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	388					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCACCAGTCTTGTCCATCC	0.612000													14	20					0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	64006397	64006397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr14:64006397A>G	ENST00000337537.3	-	2	609	c.7T>C	c.(7-9)Tca>Cca	p.S3P	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	3					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTTGGTGCTGAGGACATATCC	0.418000													14	48					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	79					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583708	145583708	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr8:145583708G>A	ENST00000532887.1	+	3	1139	c.556G>A	c.(556-558)Gac>Aac	p.D186N	SLC52A2_ENST00000540505.1_Missense_Mutation_p.D98N|SLC52A2_ENST00000527078.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000402965.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000530047.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000329994.2_Missense_Mutation_p.D186N|SLC52A2_ENST00000526752.1_Intron			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	186						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCCCCCGCTCGACTTCCTTGA	0.672000													5	77					0	0	1	0	0
STRBP	0	broad.mit.edu	37	9	125936108	125936108	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:125936108G>A	ENST00000447404.2	-	4	542	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	STRBP_ENST00000360998.3_Missense_Mutation_p.R66W|STRBP_ENST00000348403.5_Missense_Mutation_p.R80W			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	80					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACAATGTCCGACCACCTTGA	0.393000													28	67					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738113	19738113	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:19738113C>T	ENST00000222567.5	-	4	913	c.843G>A	c.(841-843)aaG>aaA	p.K281K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGTGCTTTTTCTTCTTCTTCT	0.433000													12	486					0	0	1	0	0
RP11-1055B8.7	0	broad.mit.edu	37	17	79409111	79409111	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr17:79409111G>A	ENST00000307745.7	+	9	736	c.736G>A	c.(736-738)Ggc>Agc	p.G246S																								GGAGGACGGTGGCAAGGAGCG	0.721000													3	14					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116066821	116066821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066821G>T	ENST00000410059.1	+	2	547	c.67G>T	c.(67-69)Gga>Tga	p.G23*	DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	23	Mediates effects on KCND2.				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						GTAGGAACTGGGAAGTAACAG	0.393000													15	32					1.3612e-06	1.38551e-06	1	1	0
CLCA4	22802	broad.mit.edu	37	1	87045673	87045673	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:87045673A>G	ENST00000370563.3	+	14	2447	c.2405A>G	c.(2404-2406)gAc>gGc	p.D802G	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	802						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATCTAAGAGACAGTTTTGAT	0.343000													5	51					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377673	97377673	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:97377673G>A	ENST00000264963.4	-	5	619	c.597C>T	c.(595-597)ggC>ggT	p.G199G	LMAN2L_ENST00000537039.1_Silent_p.G61G|LMAN2L_ENST00000377079.4_Silent_p.G210G|LMAN2L_ENST00000534882.1_Silent_p.G54G|LMAN2L_ENST00000426463.2_Silent_p.G65G	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	199	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGGCTGTGCAGCCTCCCAGCT	0.557000													11	46					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196689149	196689149	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:196689149C>T	ENST00000312428.6	-	49	9221	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3041	AAA 5 (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						TCTAGTTCTTCGCCAACATTT	0.348000													6	64					0	0	1	0	0
RP11-445N18.7	0	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478000													3	20					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204581	27204581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:27204581T>A	ENST00000343483.6	-	1	568	c.496A>T	c.(496-498)Aga>Tga	p.R166*	RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	166							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGTTTTTCTCTATCAACTGGA	0.537000			T	"""NUP98, MSI2"""	AML*								9	50					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27499985	27499985	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:27499985T>C	ENST00000396271.3	-	9	1088	c.962A>G	c.(961-963)aAt>aGt	p.N321S	ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375888.1_Missense_Mutation_p.N330S|ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000476758.1_5'UTR	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	330					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AAATGGTCCATTGTTGGACGT	0.363000													13	88					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153137810	153137810	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:153137810C>T	ENST00000370060.1	-	5	387		c.e5-1		L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					CCAGCGGAACCTGTGGGCGGA	0.647000													7	9					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87060768	87060768	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:87060768G>T	ENST00000265723.4	-	15	1956	c.1845C>A	c.(1843-1845)agC>agA	p.S615R	ABCB4_ENST00000358400.3_Missense_Mutation_p.S615R|ABCB4_ENST00000359206.3_Missense_Mutation_p.S615R|ABCB4_ENST00000545634.1_Missense_Mutation_p.S615R|ABCB4_ENST00000453593.1_Missense_Mutation_p.S615R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	615	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCATCAGTTCGCTGTGGCTTC	0.458000													42	75					1.15183e-24	1.28734e-24	1	1	0
RP11-615J4.3	0	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													3	5	---	---	---	---					
SGCD	6444	broad.mit.edu	37	5	156186353	156186353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr5:156186353delG	ENST00000435422.3	+	8	1309	c.822delG	c.(820-822)cagfs	p.Q274fs	SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	274					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTGTCTCAGGCAGGAGCTG	0.502													9	157	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601													10	556	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445273	49445274	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr12:49445273_49445274delCT	ENST00000301067.7	-	10	2191_2192	c.2192_2193delAG	c.(2191-2193)gagfs	p.E731fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGAGTTGCGGCTCCTCAGGTAG	0.688													28	59	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs67181940		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433													2	4	---	---	---	---					
SMARCA1	6594	broad.mit.edu	37	X	128631828	128631829	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:128631828_128631829insT	ENST00000371122.4	-	11	1626_1627	c.1497_1498insA	c.(1495-1500)aaagaafs	p.E500fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.E500fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.E500fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	500	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCACCCTGTTCTTTGAGTTTGG	0.312													28	18	---	---	---	---					
