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
S1PR5	53637	broad.mit.edu	37	19	10625610	10625610	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10625610G>A	ENST00000439028.3	-	2	203	c.78C>T	c.(76-78)cgC>cgT	p.R26R	S1PR5_ENST00000333430.4_Silent_p.R26R	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	26						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGCGCGCACCGCGGAGCTTGC	0.692000													21	30					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48278809	48278809	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48278809G>A	ENST00000225964.5	-	1	184	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	22			G -> R (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTTCCTCTTGGCCGTGCGTCA	0.572000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						3	35					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78039387	78039387	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:78039387C>T	ENST00000397545.4	+	10	1571	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.A515V|CCDC40_ENST00000374877.3_Missense_Mutation_p.A515V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	515					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGCACAGGGCGGTGCTGGAG	0.687000													52	56					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733590	6733590	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6733590G>A	ENST00000264080.7	-	8	740	c.714C>T	c.(712-714)ttC>ttT	p.F238F	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	238						integral to membrane		p.F238F(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCGTGATGTCGAATGGATGCT	0.622000													4	114					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110254902	110254902	+	Translation_Start_Site	SNP	T	T	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:110254902T>G	ENST00000369812.5	+	0	39				GSTM5_ENST00000256593.3_De_novo_Start_OutOfFrame|GSTM5_ENST00000369813.1_De_novo_Start_InFrame			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GCTCCGCTGATGCCTGTCTGC	0.672000													13	226					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833404	139833404	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:139833404C>T	ENST00000303045.6	-	7	1666	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R407H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	407	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCGTAGAGGCGCTTGCCAAT	0.592000										HNSCC(7;0.00092)			44	29					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6488424	6488424	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6488424G>A	ENST00000377828.1	+	2	601	c.433G>A	c.(433-435)Gct>Act	p.A145T		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	145					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TATCCACTACGCTGCCGCCAA	0.652000													36	35					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123213948	123213948	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:123213948C>T	ENST00000432564.1	-	1	1181	c.939G>A	c.(937-939)atG>atA	p.M313I	HCAR1_ENST00000436083.2_Missense_Mutation_p.M313I|HCAR1_ENST00000356987.2_Missense_Mutation_p.M313I	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	313					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TCGAAATTGGCATCTCTTCCG	0.488000													54	187					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122928465	122928465	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:122928465G>A	ENST00000534624.1	-	9	2194	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S	HSPA8_ENST00000227378.3_Missense_Mutation_p.P640S|HSPA8_ENST00000526110.1_Missense_Mutation_p.P621S|HSPA8_ENST00000534319.1_Missense_Mutation_p.P404S|HSPA8_ENST00000533540.1_Missense_Mutation_p.P494S|HSPA8_ENST00000532636.1_Missense_Mutation_p.P640S|HSPA8_ENST00000453788.2_Missense_Mutation_p.P487S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	640					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;0.0279)		TCAATGGTGGGCCCTGAGGAA	0.498000													49	20					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196736498	196736498	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:196736498C>T	ENST00000296350.5	-	11	1629	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	506	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCTGTGAGGACGTCACAGTCC	0.627000													22	69					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33372750	33372750	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:33372750C>A	ENST00000305768.4	-	18	2223	c.2135_splice	c.e18+1	p.R712_splice		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	712						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CATGCCCCACCTGTTCTGCTG	0.587000													6	20					3.59834e-05	3.86991e-05	1	1	0
ZIK1	284307	broad.mit.edu	37	19	58101931	58101931	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:58101931A>G	ENST00000597850.1	+	4	967	c.752A>G	c.(751-753)aAg>aGg	p.K251R	ZIK1_ENST00000536878.2_Missense_Mutation_p.K238R|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.K196R	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCCGTGGCAAGTACTCACTT	0.458000													4	87					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264495	61264495	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:61264495C>A	ENST00000344731.5	+	8	1176	c.1074C>A	c.(1072-1074)gcC>gcA	p.A358A	SERPINB13_ENST00000269489.5_Silent_p.A306A	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	358					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCACATCCGCCCCAGGTCATG	0.507000													24	61					1.10923e-09	1.24706e-09	1	1	0
BIN1	274	broad.mit.edu	37	2	127827599	127827599	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:127827599G>A	ENST00000316724.5	-	5	794	c.383C>T	c.(382-384)aCg>aTg	p.T128M	BIN1_ENST00000393040.3_Missense_Mutation_p.T128M|BIN1_ENST00000357970.3_Missense_Mutation_p.T128M|BIN1_ENST00000376113.2_Missense_Mutation_p.T128M|BIN1_ENST00000351659.3_Missense_Mutation_p.T128M|BIN1_ENST00000393041.3_Missense_Mutation_p.T128M|BIN1_ENST00000348750.4_Missense_Mutation_p.T128M|BIN1_ENST00000259238.4_Missense_Mutation_p.T128M|BIN1_ENST00000346226.3_Missense_Mutation_p.T128M|BIN1_ENST00000409400.1_Missense_Mutation_p.T128M|BIN1_ENST00000352848.3_Missense_Mutation_p.T128M	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	128	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCCAGGTACGTGTCCATGGT	0.602000													27	44					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503168	140503168	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140503168G>A	ENST00000194152.1	+	1	1588	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCTC	0.672000													84	19					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37443410	37443410	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:37443410T>G	ENST00000265107.4	+	7	778	c.622T>G	c.(622-624)Ttt>Gtt	p.F208V	WDR70_ENST00000504564.1_Missense_Mutation_p.F208V	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	208										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATGTTAAGTTTTGGGATTT	0.398000													32	90					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36277884	36277884	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:36277884C>T	ENST00000007510.4	+	20	2656	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P702S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P677S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	838					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCATCTCATACCCCTGCTGCT	0.701000													4	11					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733883	28733883	+	RNA	SNP	G	G	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:28733883G>C	ENST00000550043.1	+	0	288																											TTATAATGGTGACATGGAAAA	0.512000													70	74					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105606515	105606515	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:105606515C>A	ENST00000254765.3	-	4	984	c.706G>T	c.(706-708)Ggc>Tgc	p.G236C	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	236						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATGTCACTGCCAATTAGCACT	0.393000													6	318					5.4927e-09	6.16307e-09	1	1	0
GALNT6	11226	broad.mit.edu	37	12	51748216	51748216	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:51748216C>T	ENST00000543196.2	-	11	2021	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T	GALNT6_ENST00000356317.3_Missense_Mutation_p.A606T			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	606	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGGCCATGGCTGGCTTTTTG	0.542000													4	53					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148718078	148718078	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:148718078G>A	ENST00000286091.4	-	2	482	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	84	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TAAAACTCCAGCAGCACTGTG	0.473000													10	24					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341240	14341240	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:14341240C>T	ENST00000571589.1	+	12	2295	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	MKL2_ENST00000341243.5_Missense_Mutation_p.P697L|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	697	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCCACCGCCTGCTGTTGTT	0.572000													12	71					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99007664	99007664	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:99007664C>A	ENST00000342502.2	-	3	1163	c.752G>T	c.(751-753)aGt>aTt	p.S251I	IKBIP_ENST00000420861.1_Missense_Mutation_p.S145I|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	251					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GTCGAAGTCACTCTTTAGTTC	0.388000													39	115					1.49673e-21	1.81906e-21	1	1	0
IL21R	50615	broad.mit.edu	37	16	27454418	27454418	+	Missense_Mutation	SNP	G	G	C	rs148782015		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:27454418G>C	ENST00000337929.3	+	5	961	c.488G>C	c.(487-489)cGg>cCg	p.R163P	IL21R_ENST00000395754.4_Missense_Mutation_p.R163P|IL21R_ENST00000564089.1_Missense_Mutation_p.R163P|IL21R_ENST00000395755.1_Missense_Mutation_p.R163P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	163	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TACAGGAACCGGGGAGACCCC	0.557000			T	BCL6	NHL								8	70					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065372	55065372	+	RNA	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:55065372C>A	ENST00000526016.1	-	0	336					NR_038174.2																						GGGACAGTGTCTGTGATTCCG	0.458000													5	74					0.00116845	0.00121758	1	1	0
OR10G2	26534	broad.mit.edu	37	14	22102238	22102238	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:22102238G>A	ENST00000542433.1	-	1	858	c.761C>T	c.(760-762)aCa>aTa	p.T254I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ATAGTAGACTGTGACCACGAT	0.547000													40	41					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170689011	170689011	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:170689011G>A	ENST00000239461.6	+	2	699	c.386G>A	c.(385-387)cGc>cAc	p.R129H	PRRX1_ENST00000367760.3_Missense_Mutation_p.R129H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R129H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	129						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACCTTGCCCGCCGGGTGAAC	0.537000													34	44					0	0	1	0	0
IDH3A	3419	broad.mit.edu	37	15	78453976	78453976	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:78453976C>T	ENST00000299518.2	+	5	426	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.R6C|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	115					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	TTTACTGCTGCGCAAAACATT	0.443000													36	95					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27878049	27878049	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:27878049G>T	ENST00000374011.2	-	6	1546	c.578C>A	c.(577-579)cCc>cAc	p.P193H	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.P193H	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	193	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGATGGCTGGGCCGCTCCGA	0.677000													24	63					7.87624e-14	9.25662e-14	1	1	0
FRY	10129	broad.mit.edu	37	13	32808875	32808875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:32808875G>T	ENST00000380250.3	+	42	6188	c.5692G>T	c.(5692-5694)Gga>Tga	p.G1898*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAGGTGATAGGAGAACATGG	0.488000													3	34					2.56e-06	2.76888e-06	1	1	0
DSP	1832	broad.mit.edu	37	6	7567636	7567636	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:7567636C>T	ENST00000379802.3	+	9	1435	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	DSP_ENST00000418664.2_Missense_Mutation_p.T365I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	365	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCAGATCACCAAGTGCATT	0.378000													56	104					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941644	52941644	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52941644C>T	ENST00000394752.3	-	18	2394	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R671Q|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R671Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R671Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	671					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AACATTTTTCCGCCTCTTTCT	0.438000													40	21					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	428001	428001	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:428001G>A	ENST00000316418.5	+	9	898	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	AHRR_ENST00000506456.1_Missense_Mutation_p.R123Q|AHRR_ENST00000512529.1_Missense_Mutation_p.R113Q|AHRR_ENST00000505113.1_Missense_Mutation_p.R267Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTCCCGCCGCGGCTGTCGCTG	0.557000													33	27					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236388426	236388426	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:236388426G>A	ENST00000354619.5	-	13	1267	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	356					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCATCAAAGTGCATGGGAAAG	0.388000													26	114					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979211	120979211	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:120979211G>T	ENST00000222462.2	+	4	1200	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	WNT16_ENST00000361301.2_Missense_Mutation_p.G294W	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	304					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GGGAATCCCAGGGACACAAGG	0.473000													4	39					0.00024832	0.000262116	1	1	0
KIAA1147	57189	broad.mit.edu	37	7	141364990	141364990	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:141364990C>T	ENST00000536163.1	-	6	948	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	KIAA1147_ENST00000482493.1_Missense_Mutation_p.A213T	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	317										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TACTCACAGGCCACATAGGAC	0.617000													20	16					0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156261316	156261316	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:156261316C>T	ENST00000405535.2	+	4	1283	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Silent_p.C132C|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.A371V	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	371						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					ATGCTCACTGCCACCGAGAGC	0.672000													12	153					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90796344	90796344	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:90796344C>T	ENST00000220751.4	+	8	1320	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	RIPK2_ENST00000540020.1_Missense_Mutation_p.P199S	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	336					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCTGAACATACCTGTAAATCA	0.269000													17	88					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135946437	135946437	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:135946437C>T	ENST00000372080.4	+	11	1573	c.1557C>T	c.(1555-1557)agC>agT	p.S519S	CEL_ENST00000351304.7_Silent_p.S450S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	516					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGAAAACAGCGGCTACCTGG	0.607000													9	21					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61526189	61526189	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:61526189C>T	ENST00000266070.4	-	10	2734	c.2409G>A	c.(2407-2409)gaG>gaA	p.E803E	DIDO1_ENST00000395340.1_Silent_p.E803E|DIDO1_ENST00000395343.1_Silent_p.E803E|DIDO1_ENST00000395335.2_Silent_p.E803E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	803					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGGAGAGTCCTCCAGATCGG	0.468000													32	145					0	0	1	0	0
C2orf88	84281	broad.mit.edu	37	2	191064837	191064837	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:191064837A>G	ENST00000340623.4	+	2	662	c.251A>G	c.(250-252)tAc>tGc	p.Y84C	C2orf88_ENST00000443551.2_Missense_Mutation_p.Y84C|C2orf88_ENST00000396974.2_Missense_Mutation_p.Y84C|C2orf88_ENST00000409870.1_Missense_Mutation_p.Y84C	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	84										kidney(1)|large_intestine(1)|lung(1)	3						AACATCAAGTACCATGACATT	0.458000													35	129					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641800	106641800	+	RNA	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:106641800C>A	ENST00000390605.2	-	0	172																											TGCAGGAGACCTTCACTGAGG	0.587000													6	267					0.00198382	0.0020597	1	1	0
FASTKD3	79072	broad.mit.edu	37	5	7867655	7867655	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:7867655G>A	ENST00000264669.5	-	2	678	c.542C>T	c.(541-543)gCt>gTt	p.A181V	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	181					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTTGCAAAGCAGTCACTAA	0.448000													19	162					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50732641	50732641	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:50732641C>T	ENST00000355832.5	-	5	913	c.835G>A	c.(835-837)Gca>Aca	p.A279T	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A279T|PGBD3_ENST00000603152.1_Missense_Mutation_p.A279T|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A279T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	279					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACAGTTTTGCTTGATCTGCC	0.433000								Direct reversal of damage;Nucleotide excision repair (NER)					27	99					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155023188	155023188	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:155023188C>T	ENST00000295542.1	+	17	2061	c.1965C>T	c.(1963-1965)ccC>ccT	p.P655P	DCST1_ENST00000423025.2_Silent_p.P630P	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	655						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCGAGACGCCCGAGTCCTACG	0.726000											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	18					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34312590	34312590	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:34312590C>T	ENST00000373381.4	-	6	1104	c.928G>A	c.(928-930)Gga>Aga	p.G310R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	270						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCTGGCTCCGGTGAACCTG	0.582000													4	20					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45474374	45474374	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:45474374C>A	ENST00000372172.4	-	8	1144		c.e8-1			NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3						proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ATCCCATCATCTGGGGGAAGG	0.552000													57	121					4.96213e-28	6.13539e-28	1	1	0
CPN2	1370	broad.mit.edu	37	3	194062486	194062486	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:194062486G>A	ENST00000323830.3	-	2	1035	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	CPN2_ENST00000429275.1_Missense_Mutation_p.R316C	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	316					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		ATGAGGGAACGCAGGTTGGAC	0.582000													9	28					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143718206	143718206	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:143718206T>C	ENST00000264170.4	+	8	854	c.596T>C	c.(595-597)tTa>tCa	p.L199S	KYNU_ENST00000409512.1_Missense_Mutation_p.L199S|KYNU_ENST00000375773.2_Missense_Mutation_p.L199S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	199					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GAAGAAACCTTAAGAATAGAG	0.378000													23	61					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762147	23762147	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:23762147A>G	ENST00000397312.2	-	2	360	c.86T>C	c.(85-87)gTt>gCt	p.V29A	ELAVL2_ENST00000380110.4_Missense_Mutation_p.V58A|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V29A|ELAVL2_ENST00000223951.6_Missense_Mutation_p.V29A|ELAVL2_ENST00000544538.1_Missense_Mutation_p.V29A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	29					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCCAGAGTCAACTGGTGACGA	0.448000													22	167					0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223423242	223423242	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:223423242G>A	ENST00000321276.7	+	5	911	c.825G>A	c.(823-825)gcG>gcA	p.A275A		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	275					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CAACCCGGGCGGACACCACCA	0.547000													65	100					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49336023	49336023	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:49336023C>T	ENST00000351842.4	-	11	1425	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	USP4_ENST00000265560.4_Missense_Mutation_p.E520K	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	520					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAGAGAGCCTCGCACAGGTCG	0.547000													83	35					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183070678	183070678	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:183070678T>C	ENST00000435564.1	-	8	1139	c.939A>G	c.(937-939)aaA>aaG	p.K313K	PDE1A_ENST00000358139.2_Silent_p.K313K|PDE1A_ENST00000456212.1_Silent_p.K313K|PDE1A_ENST00000410103.1_Silent_p.K313K|PDE1A_ENST00000351439.5_Silent_p.K297K|PDE1A_ENST00000331935.6_Silent_p.K313K|PDE1A_ENST00000409365.1_Silent_p.K297K|PDE1A_ENST00000346717.4_Silent_p.K279K|PDE1A_ENST00000536095.1_Silent_p.K209K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	313	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCCAGTCATCTTTGGATAAAT	0.338000													25	39					0	0	1	0	0
RPL8	6132	broad.mit.edu	37	8	146015766	146015766	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:146015766G>A	ENST00000262584.3	-	5	821	c.589C>T	c.(589-591)Cca>Tca	p.P197S	RPL8_ENST00000528957.1_Missense_Mutation_p.P197S|RPL8_ENST00000394920.2_Missense_Mutation_p.P197S|RPL8_ENST00000527914.1_Missense_Mutation_p.P88S|RPL8_ENST00000529163.1_5'UTR	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	197					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CGTACTCGTGGCCAGCAGTTC	0.537000													8	120					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845356	52845356	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:52845356G>A	ENST00000252252.3	-	1	554	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	169	Coil 1A.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGTTGTTGAGGGTCTTGATCT	0.582000													23	197					0	0	1	0	0
SERF2	10169	broad.mit.edu	37	15	44085881	44085881	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:44085881C>A	ENST00000409960.2	+	3	271	c.224C>A	c.(223-225)cCc>cAc	p.P75H	RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409614.1_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000403425.1_Intron|SERF2_ENST00000339624.5_Intron|SERF2_ENST00000402131.1_Intron|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000381359.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000249786.4_Intron	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus		p.P75H(1)		lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGGTACCTCCCAGTGCCCCA	0.522000													26	57					1.42536e-11	1.64464e-11	1	1	0
PRPSAP2	5636	broad.mit.edu	37	17	18814458	18814458	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:18814458G>A	ENST00000268835.2	+	9	910	c.627G>A	c.(625-627)gtG>gtA	p.V209V	PRPSAP2_ENST00000419071.2_Silent_p.V169V|PRPSAP2_ENST00000542013.1_Silent_p.V209V|PRPSAP2_ENST00000536323.1_Silent_p.V123V	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	209					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GAATTGCAGTGATTCATGGAG	0.572000													22	71					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140053103	140053103	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140053103C>T	ENST00000371561.3	+	8	2241	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	GRIN1_ENST00000371560.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371553.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371559.4_Missense_Mutation_p.P382S|GRIN1_ENST00000371546.4_Missense_Mutation_p.P403S|GRIN1_ENST00000371550.4_Missense_Mutation_p.P382S|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Missense_Mutation_p.P382S|GRIN1_ENST00000371555.4_Missense_Mutation_p.P403S|GRIN1_ENST00000315048.3_Missense_Mutation_p.P382S	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	382					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GATCATCTGGCCAGGCGGAGA	0.637000													26	57					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887724	60887724	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:60887724T>C	ENST00000252999.3	-	67	9257	c.9191A>G	c.(9190-9192)tAc>tGc	p.Y3064C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3064	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCCCCAGGTAGTAGGCGTC	0.701000													4	18					0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	398399	398399	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:398399A>G	ENST00000356286.5	+	4	990	c.285A>G	c.(283-285)ccA>ccG	p.P95P	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Silent_p.P53P	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	95	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				ATGGCTTCCCACCAGTCTTGC	0.612000													19	52					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528321	6528321	+	Missense_Mutation	SNP	G	G	A	rs150666859		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6528321G>A	ENST00000377748.1	-	21	3303	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R896C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R938C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R915C|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R928C	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	915					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCGGCGGCGGAGACGGGGC	0.677000													15	8					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848263	83848263	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:83848263C>T	ENST00000349129.2	+	21	4762	c.4502C>T	c.(4501-4503)gCa>gTa	p.A1501V	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.A1492V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.A1482V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1501					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTGAGCTGGCAAAAGTAATA	0.373000													28	98					0	0	1	0	0
CREG2	200407	broad.mit.edu	37	2	101967419	101967419	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:101967419T>C	ENST00000324768.4	-	4	976	c.839A>G	c.(838-840)gAg>gGg	p.E280G		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	280						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GAAATATTCCTCCCTTGAAAT	0.428000													66	94					0	0	1	0	0
FAM210B	116151	broad.mit.edu	37	20	54941215	54941215	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:54941215G>A	ENST00000371384.3	+	3	542	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_080821.2	NP_543011.2	Q96KR6	CT108_HUMAN	family with sequence similarity 210, member B	151	DUF1279.					integral to membrane											AAGTACCTTCGTGGTGGCCTA	0.488000													51	80					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56441908	56441908	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:56441908C>T	ENST00000290649.5	-	4	844	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	212					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GTGTGCATTCCGTGGGTGTAG	0.552000													8	52					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97141462	97141462	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:97141462C>T	ENST00000371247.2	-	18	1822	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I	SORBS1_ENST00000354106.3_Missense_Mutation_p.V515I|SORBS1_ENST00000353505.5_Missense_Mutation_p.V430I|SORBS1_ENST00000371246.2_Missense_Mutation_p.V567I|SORBS1_ENST00000371241.1_Missense_Mutation_p.V335I|SORBS1_ENST00000371239.1_Missense_Mutation_p.V344I|SORBS1_ENST00000371249.2_Missense_Mutation_p.V467I|SORBS1_ENST00000347291.4_Missense_Mutation_p.V413I|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Missense_Mutation_p.V376I|SORBS1_ENST00000393949.1_Missense_Mutation_p.V515I|SORBS1_ENST00000607232.1_Missense_Mutation_p.V334I|SORBS1_ENST00000371245.3_Missense_Mutation_p.V430I|SORBS1_ENST00000361941.3_Missense_Mutation_p.V545I|SORBS1_ENST00000371227.4_Missense_Mutation_p.V499I|SORBS1_ENST00000277982.5_Missense_Mutation_p.V567I			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	545					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTGGTCAGAACGGAAGACTTG	0.413000													37	6					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475366	52475366	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52475366C>T	ENST00000231721.2	-	7	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	243	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AAGAAGTACACCTTGTCATTG	0.627000													11	18					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713243	30713243	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:30713243C>T	ENST00000295754.5	+	4	950	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R215C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	190					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTACTGCTACCGCGTTAACCG	0.517000													40	7					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253865	127253865	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:127253865G>A	ENST00000341640.2	-	4	688	c.483C>T	c.(481-483)acC>acT	p.T161T	PAX4_ENST00000338516.3_Silent_p.T169T|PAX4_ENST00000463946.1_Silent_p.T159T|PAX4_ENST00000378740.2_Silent_p.T161T	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	169					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCGGTGGCCGGTCCCTGGGT	0.577000													46	33					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680659	30680659	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:30680659G>A	ENST00000376406.3	-	5	1707	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y	MDC1_ENST00000376405.2_Missense_Mutation_p.H354Y|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	354	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCTACTCCATGGAAGATCTTC	0.552000								Other conserved DNA damage response genes					26	154					0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77830229	77830229	+	Splice_Site	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:77830229T>C	ENST00000376156.3	-	5	548	c.546_splice	c.e5+1	p.Q182_splice	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Splice_Site_p.Q182_splice	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	182					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TATGTTTACCTGAAATAATCG	0.318000													20	56					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881605	26881605	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:26881605T>C	ENST00000231021.4	-	12	2182	c.2010A>G	c.(2008-2010)caA>caG	p.Q670Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	670					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTCAAAAGCTTGGGTATCTT	0.433000													41	173					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276124	186276124	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:186276124A>C	ENST00000445192.2	+	7	1318	c.1273A>C	c.(1273-1275)Acc>Ccc	p.T425P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T382P|PRG4_ENST00000367483.4_Missense_Mutation_p.T384P|PRG4_ENST00000367485.4_Missense_Mutation_p.T332P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	425	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGTCTGC	0.657000													21	112					0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27269437	27269437	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:27269437C>T	ENST00000321265.5	+	6	745	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	208	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCGGCACCTCCGGGTGGGGCT	0.597000													23	59					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72945430	72945430	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:72945430C>T	ENST00000328801.4	+	7	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	570						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGTTCGCCATCGTCAACTTCG	0.597000													54	74					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27944056	27944056	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:27944056T>C	ENST00000345068.5	-	7	971	c.758A>G	c.(757-759)aAc>aGc	p.N253S	CORO6_ENST00000580212.1_Missense_Mutation_p.N213S|CORO6_ENST00000445145.2_Missense_Mutation_p.N253S|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000456796.3_Missense_Mutation_p.N19S|CORO6_ENST00000388767.3_Missense_Mutation_p.N253S|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.N253S			Q6QEF8	CORO6_HUMAN	coronin 6	253					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CTCCTCGAAGTTGTTCTGCCC	0.607000													12	123					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78325515	78325515	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:78325515C>A	ENST00000238561.5	+	4	415	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	113						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCTGGACTACCTGTTGCCAGA	0.617000													22	128					3.62473e-10	4.11573e-10	1	1	0
BMP2K	55589	broad.mit.edu	37	4	79833124	79833124	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:79833124C>A	ENST00000335016.5	+	16	3589	c.3423C>A	c.(3421-3423)tcC>tcA	p.S1141S	PAQR3_ENST00000512733.1_3'UTR|PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1141						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CACATCAGTCCCAACAGTCCC	0.443000													91	24					3.47606e-37	4.35462e-37	1	1	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													6	20					0.307466	0.308006	1	1	0
TCOF1	6949	broad.mit.edu	37	5	149755366	149755366	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:149755366C>T	ENST00000451292.1	+	12	1895	c.1787C>T	c.(1786-1788)gCc>gTc	p.A596V	TCOF1_ENST00000513346.1_Missense_Mutation_p.A596V|TCOF1_ENST00000504761.2_Missense_Mutation_p.A596V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A596V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A519V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A519V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A596V|TCOF1_ENST00000439160.2_Missense_Mutation_p.A596V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	596					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCCTGTAGCCGTCCAGGTC	0.602000													38	55					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694099	153694099	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:153694099G>A	ENST00000369682.3	+	13	2616	c.2441G>A	c.(2440-2442)tGc>tAc	p.C814Y		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	814					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCACAGGTGCCAGCTGCGG	0.672000													28	25					0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332528	16332528	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:16332528C>A	ENST00000329454.2	+	2	265	c.197C>A	c.(196-198)gCc>gAc	p.A66D		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	66										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCCAAGCCCCCAGTCCC	0.597000													102	90					9.16707e-34	1.14338e-33	1	1	0
CCER1	196477	broad.mit.edu	37	12	91348252	91348252	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:91348252C>A	ENST00000358859.2	-	1	701	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CGCCAGGGCCCTCCCCAGCAC	0.632000													7	43					0.0293803	0.029588	1	1	0
NCOR1	9611	broad.mit.edu	37	17	15942951	15942951	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:15942951C>A	ENST00000268712.3	-	44	7008	c.6751G>T	c.(6751-6753)Ggc>Tgc	p.G2251C	NCOR1_ENST00000395857.3_Missense_Mutation_p.G835C|NCOR1_ENST00000395851.1_Missense_Mutation_p.G2148C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2251	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAAGAATGGCCTCTAGAGCTA	0.443000													20	25					5.03518e-11	5.7864e-11	1	1	0
WTIP	126374	broad.mit.edu	37	19	34984431	34984431	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:34984431G>A	ENST00000590071.2	+	5	1272	c.935G>A	c.(934-936)gGc>gAc	p.G312D	WTIP_ENST00000270288.6_Missense_Mutation_p.G536D	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TACCACCCAGGCTGCTTCCGG	0.647000													17	71					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18320386	18320386	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:18320386C>T	ENST00000396253.3	-	9	1237	c.775G>A	c.(775-777)Gct>Act	p.A259T	HPS5_ENST00000531848.1_Missense_Mutation_p.A259T|HPS5_ENST00000438420.2_Missense_Mutation_p.A259T|HPS5_ENST00000349215.3_Missense_Mutation_p.A373T	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	373						cytosol		p.A373S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTACGAGCAGCCAAGTTCCAT	0.463000									Hermansky-Pudlak syndrome				34	198					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100817864	100817864	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:100817864G>A	ENST00000300303.2	-	2	463	c.225C>T	c.(223-225)ggC>ggT	p.G75G	NAT16_ENST00000443096.1_Silent_p.G75G|NAT16_ENST00000455377.1_Silent_p.G75G	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	75	N-acetyltransferase.						N-acetyltransferase activity										AGTCCAGGCCGCCGTAGATGC	0.692000													25	43					0	0	1	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597000													6	228					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284923	152284923	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:152284923G>A	ENST00000368799.1	-	3	2474	c.2439C>T	c.(2437-2439)agC>agT	p.S813S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	813	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACTCCAGTGCTGGGCCCTG	0.572000									Ichthyosis				7	476					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76794995	76794995	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:76794995C>T	ENST00000312010.6	-	19	3559	c.3235G>A	c.(3235-3237)Ggg>Agg	p.G1079R	USP36_ENST00000542802.2_Missense_Mutation_p.G1079R|USP36_ENST00000449938.2_Missense_Mutation_p.G684R	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1077					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CATACCTTCCCTCGGTCAAAC	0.597000													50	229					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64521111	64521111	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:64521111C>T	ENST00000164139.3	-	11	1681	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	PYGM_ENST00000377432.3_Missense_Mutation_p.R340H	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	428					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGCGACATGCGCCGCAGCCG	0.687000													5	10					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128227	147128227	+	Missense_Mutation	SNP	G	G	A	rs138004710	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:147128227G>A	ENST00000282928.4	+	1	1057	c.328G>A	c.(328-330)Gcg>Acg	p.A110T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	110	Poly-Ala.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTTTGGCGACGCGGCGGCGGC	0.697000													21	10					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95837161	95837161	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:95837161G>A	ENST00000523731.1	+	2	304	c.171G>A	c.(169-171)caG>caA	p.Q57Q	INTS8_ENST00000447247.1_Silent_p.Q57Q	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	57					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTTTGGAACAGGCTTCCAAAC	0.328000													69	60					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466043	56466043	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:56466043G>A	ENST00000291971.3	+	3	690	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A207T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	207	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAAGACCGTGGCCATACAGGG	0.542000													44	72					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005313	30005313	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30005313G>T	ENST00000279392.3	-	4	1983	c.1153C>A	c.(1153-1155)Cgc>Agc	p.R385S	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	385					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TTGGAAGAGCGGTTCTTCCTC	0.602000													16	50					1.52009e-12	1.77189e-12	1	1	0
TENM3	55714	broad.mit.edu	37	4	183714543	183714543	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:183714543A>G	ENST00000511685.1	+	26	6841	c.6718A>G	c.(6718-6720)Acc>Gcc	p.T2240A	TENM3_ENST00000406950.2_Missense_Mutation_p.T2240A					teneurin transmembrane protein 3																		TTCTAGCAAAACCAGTCTAGG	0.453000													4	42					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628232	33628232	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:33628232A>G	ENST00000380099.3	+	2	1156	c.1148A>G	c.(1147-1149)cAc>cGc	p.H383R	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.H76R	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	383	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTGGACCCTCACATGAAGTTC	0.408000													10	290					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091373	52091373	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52091373A>G	ENST00000262259.2	+	5	2147	c.1789A>G	c.(1789-1791)Aac>Gac	p.N597D	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	597					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GAAGGCCTTCAACGGCAGGTC	0.433000													27	162					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46609912	46609912	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:46609912C>T	ENST00000275016.2	-	2	504	c.301G>A	c.(301-303)Gtt>Att	p.V101I		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	101					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GTACGATAAACGATATTTTGC	0.333000													20	32					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41307129	41307129	+	Missense_Mutation	SNP	C	C	T	rs140368149		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:41307129C>T	ENST00000593726.1	+	1	1680	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	218					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACGGGGTGGGCGCCTGCGAGA	0.682000													64	103					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148807	69148807	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:69148807G>A	ENST00000306560.1	+	4	1456	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.A434T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	434					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCGGGGCAATGCAGAGATGAT	0.547000													68	120					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122779664	122779664	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:122779664C>A	ENST00000368454.1	-	4	531		c.e4+1		SERINC1_ENST00000339697.3_Splice_Site			Q9NRX5	SERC1_HUMAN	serine incorporator 1						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ACGAGACTAACCTTATTCAGT	0.323000													23	99					2.39556e-15	2.84473e-15	1	1	0
HIST1H2BM	8342	broad.mit.edu	37	6	27783013	27783013	+	Missense_Mutation	SNP	C	C	G	rs146702958		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:27783013C>G	ENST00000359465.4	+	1	192	c.192C>G	c.(190-192)aaC>aaG	p.N64K		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	64					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAATCATGAACTCCTTCGTCA	0.557000													92	119					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791556	8791556	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:8791556C>T	ENST00000447110.1	-	10	1672	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	PIK3R5_ENST00000581552.1_Silent_p.T516T|PIK3R5_ENST00000584803.1_Silent_p.T516T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	516					platelet activation	cytosol|membrane|nucleus		p.T516T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAACACGTAGCGTGGAAGCCT	0.627000													28	97					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160969620	160969620	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:160969620C>A	ENST00000447678.1	-	32	5165	c.5045G>T	c.(5044-5046)aGc>aTc	p.S1682I	LPA_ENST00000316300.5_Missense_Mutation_p.S1682I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4190	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCACCTGATGCTGGGGTCCAT	0.532000													74	86					3.76054e-38	4.72138e-38	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31828251	31828251	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:31828251G>A	ENST00000543095.2	-	15	2268	c.2084C>T	c.(2083-2085)gCt>gTt	p.A695V	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A689V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A695V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A689V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A402V	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	689							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCTGAGGATAGCACAGAGGTT	0.428000													21	94					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720454	146720454	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:146720454A>T	ENST00000392299.2	+	8	2749	c.2279A>T	c.(2278-2280)aAt>aTt	p.N760I	GRM1_ENST00000361719.2_Missense_Mutation_p.N760I|GRM1_ENST00000282753.1_Missense_Mutation_p.N760I|GRM1_ENST00000355289.4_Missense_Mutation_p.N760I|GRM1_ENST00000507907.1_Missense_Mutation_p.N760I|GRM1_ENST00000492807.2_Missense_Mutation_p.N760I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	760					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTGGGCTACAATGGACTCCTC	0.517000													32	120					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258661	2258661	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2258661C>A	ENST00000301724.10	+	8	983	c.909C>A	c.(907-909)gcC>gcA	p.A303A	MLST8_ENST00000569417.1_Intron|MLST8_ENST00000564088.1_Intron|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000565250.1_Intron|MLST8_ENST00000382450.4_Intron|MLST8_ENST00000397124.1_Intron			Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	0					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CGGCGCTGGCCTCCAGAGCCA	0.711000													8	100					1.12685e-05	1.21419e-05	1	1	0
POM121	9883	broad.mit.edu	37	7	72413825	72413825	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:72413825C>T	ENST00000395270.1	+	14	3539	c.2498C>T	c.(2497-2499)aCg>aTg	p.T833M	POM121_ENST00000257622.4_Missense_Mutation_p.T833M|POM121_ENST00000434423.2_Missense_Mutation_p.T1098M|POM121_ENST00000358357.3_Missense_Mutation_p.T833M|POM121_ENST00000446813.1_Missense_Mutation_p.T833M	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1098	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TCACCCTTCACGTTTGGGGGT	0.642000													9	26					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9437559	9437559	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:9437559A>G	ENST00000281419.3	+	3	670	c.330A>G	c.(328-330)gcA>gcG	p.A110A	ASAP2_ENST00000315273.4_Silent_p.A110A	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	110					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGTTGACAGCACTTTTCAAAA	0.438000													25	65					0	0	1	0	0
OLFML1	283298	broad.mit.edu	37	11	7531294	7531294	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:7531294C>T	ENST00000329293.3	+	3	1478	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	OLFML1_ENST00000530135.1_Missense_Mutation_p.P362S|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	362	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTTGTTCTTCCCCAAGAGACC	0.502000													51	89					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24087058	24087058	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:24087058G>T	ENST00000341976.3	-	2	730	c.270C>A	c.(268-270)ctC>ctA	p.L90L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	90						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTTGTCCGAAGAGCTCATCAT	0.498000													26	108					3.73148e-12	4.32305e-12	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140396160	140396160	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140396160C>T	ENST00000406427.1	-	15	1829	c.1493G>A	c.(1492-1494)gGc>gAc	p.G498D	PNPLA7_ENST00000277531.4_Missense_Mutation_p.G473D|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G79D	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	473					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGCCACCCGGCCATCCAACAG	0.607000													7	22					0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31829860	31829860	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:31829860C>A	ENST00000331457.4	+	9	1168	c.1007C>A	c.(1006-1008)gCt>gAt	p.A336D		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	336					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CCATGCAGTGCTCTGGTCTGG	0.438000													20	30					6.33239e-15	7.48851e-15	1	1	0
SLBP	7884	broad.mit.edu	37	4	1701409	1701409	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:1701409T>C	ENST00000489418.1	-	5	727	c.361A>G	c.(361-363)Atg>Gtg	p.M121V	SLBP_ENST00000318386.4_Missense_Mutation_p.M128V|SLBP_ENST00000429429.2_Missense_Mutation_p.M82V|SLBP_ENST00000488267.1_Missense_Mutation_p.M86V	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	121					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			ACAGTAGACATAGACTCCTTT	0.393000													13	54					0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	376920	376920	+	Silent	SNP	G	G	A	rs61744723	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:376920G>A	ENST00000217233.3	+	4	1216	c.663G>A	c.(661-663)gcG>gcA	p.A221A	TRIB3_ENST00000422053.2_Silent_p.A248A	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	221	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		ACAAGCACGCGTGCCCAGCCT	0.617000													6	74					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106589	14106589	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:14106589G>A	ENST00000235372.7	+	8	3155	c.2299G>A	c.(2299-2301)Ggg>Agg	p.G767R	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G566R|PRDM2_ENST00000413440.1_Missense_Mutation_p.G566R|PRDM2_ENST00000311066.5_Missense_Mutation_p.G767R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	767						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GACCGATGCCGGGCTGACTTC	0.522000													5	94					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69105798	69105798	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:69105798C>T	ENST00000361055.4	-	14	1102	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	UBA3_ENST00000349511.4_Missense_Mutation_p.G336R|UBA3_ENST00000540295.1_Missense_Mutation_p.G173R|UBA3_ENST00000415609.2_Missense_Mutation_p.G309R	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	350					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GTATACAGCCCATCTACATCA	0.264000													106	34					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160128239	160128239	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:160128239G>T	ENST00000409990.3	-	5	1000	c.744C>A	c.(742-744)tcC>tcA	p.S248S	WDSUB1_ENST00000359774.4_Silent_p.S248S|WDSUB1_ENST00000392796.3_Silent_p.S248S|WDSUB1_ENST00000358147.4_Intron|WDSUB1_ENST00000409124.1_Silent_p.S248S	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	248						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GCCCATCATGGGAAAAAGCAC	0.373000													25	42					3.69857e-22	4.50466e-22	1	1	0
OR5I1	10798	broad.mit.edu	37	11	55703121	55703121	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:55703121G>T	ENST00000301532.3	-	1	755	c.756C>A	c.(754-756)atC>atA	p.I252I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCCTTGGTAGATCGTCACTG	0.433000													22	17					2.21704e-12	2.57375e-12	1	1	0
PIDD	55367	broad.mit.edu	37	11	804233	804233	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:804233G>A	ENST00000347755.5	-	2	297	c.156C>T	c.(154-156)caC>caT	p.H52H	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.H52H	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	52					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGACACACAGGTGCAGCAGCT	0.662000													12	60					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55545326	55545326	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:55545326C>T	ENST00000294383.6	-	60	7084	c.7085G>A	c.(7084-7086)gGc>gAc	p.G2362D	USP24_ENST00000407756.1_Missense_Mutation_p.G2202D	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2362					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTAAATATGCCAGGAGCTTT	0.458000													11	92					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702506	225702506	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:225702506G>T	ENST00000366844.2	-	7	1461	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	ENAH_ENST00000366843.2_Missense_Mutation_p.P337H|ENAH_ENST00000284563.6_Missense_Mutation_p.P584H	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	337	Pro-rich.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		aggaggtggagggggccctgg	0.672000													5	20					0.00116845	0.00121758	1	1	0
OPTC	26254	broad.mit.edu	37	1	203466160	203466160	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:203466160C>T	ENST00000367222.2	+	3	403	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	96	Ser/Thr-rich.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAGCACTACGGCTCCAGGG	0.557000													36	52					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12864086	12864086	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12864086C>T	ENST00000549706.1	+	3	489	c.165C>T	c.(163-165)acC>acT	p.T55T	BEST2_ENST00000553030.1_Silent_p.T55T|BEST2_ENST00000042931.1_Silent_p.T55T			Q8NFU1	BEST2_HUMAN	bestrophin 2	55					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TTGTGCTGACCGAAGGGCAGA	0.562000													18	103					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30192412	30192412	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:30192412A>G	ENST00000261708.4	-	18	1746	c.1609T>C	c.(1609-1611)Ttg>Ctg	p.L537L		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	537					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AACTCTCTCAAAGCTCTCTCA	0.373000													5	99					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42883140	42883140	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:42883140G>T	ENST00000426548.1	-	3	315	c.46C>A	c.(46-48)Cat>Aat	p.H16N	GJC1_ENST00000590758.1_Missense_Mutation_p.H16N|GJC1_ENST00000330514.4_Missense_Mutation_p.H16N|GJC1_ENST00000592524.1_Missense_Mutation_p.H16N	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	16					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AATGTGGAATGGTTGTGAATC	0.433000													22	31					1.10923e-09	1.24706e-09	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198718660	198718660	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:198718660C>A	ENST00000367376.2	+	28	3219	c.3048C>A	c.(3046-3048)atC>atA	p.I1016I	PTPRC_ENST00000594404.1_Silent_p.I855I|PTPRC_ENST00000352140.3_Silent_p.I968I|PTPRC_ENST00000348564.6_Silent_p.I857I|PTPRC_ENST00000442510.2_Silent_p.I1018I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1016	Tyrosine-protein phosphatase 2.				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			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						GCAAATACATCAATGCATCTT	0.348000													7	67					0.00307968	0.00319167	1	1	0
SH2B3	10019	broad.mit.edu	37	12	111884578	111884578	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:111884578G>A	ENST00000341259.2	+	3	1111	c.754G>A	c.(754-756)Gca>Aca	p.A252T	SH2B3_ENST00000538307.1_Missense_Mutation_p.A50T	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	252	PH.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CAAGCTACAAGCAGCTTGCTC	0.517000													4	44					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40315821	40315821	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:40315821G>A	ENST00000264661.3	-	13	2612	c.2280C>T	c.(2278-2280)agC>agT	p.S760S	KCNH4_ENST00000607371.1_Silent_p.S760S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	760					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGCCCAAAAGGCTGACCAGGG	0.701000													3	9					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379591	54379591	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:54379591G>A	ENST00000303460.4	+	1	622	c.548G>A	c.(547-549)cGc>cAc	p.R183H		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	183					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CTCAACCCGCGCGCCGAACAT	0.642000													32	52					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89872299	89872299	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:89872299C>T	ENST00000268124.5	-	4	1231	c.898G>A	c.(898-900)Gcc>Acc	p.A300T	POLG_ENST00000442287.2_Missense_Mutation_p.A300T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	300					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCTGAGATGGCCATGTGCATG	0.597000								DNA polymerases (catalytic subunits)					10	33					0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39114838	39114838	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39114838G>A	ENST00000545173.2	+	3	355		c.e3+1		EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site|EIF3K_ENST00000593062.1_Splice_Site|EIF3K_ENST00000538434.1_Splice_Site			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K						regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGGCACATGTATCCTTCCA	0.577000													7	48					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12409289	12409289	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:12409289C>T	ENST00000358136.3	+	46	9419	c.9289C>T	c.(9289-9291)Cgg>Tgg	p.R3097W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3072W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3096					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACTTCTTGGCGGCTACAGGC	0.488000													66	86					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013326	51013326	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:51013326A>G	ENST00000442544.2	+	26	4512	c.3896A>G	c.(3895-3897)cAg>cGg	p.Q1299R	DCC_ENST00000581580.1_Intron|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1299					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAAGAAGTCAGTGTAATGCA	0.453000													23	49					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35712949	35712949	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:35712949C>A	ENST00000314888.9	-	27	3797	c.3444G>T	c.(3442-3444)caG>caT	p.Q1148H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q1148H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1148					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTACAATGGCCTGCACTGCAG	0.617000													3	10					0.004672	0.00481562	1	1	0
WWC3	55841	broad.mit.edu	37	X	10085539	10085539	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:10085539G>A	ENST00000380861.4	+	11	1831	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	WWC3_ENST00000454666.1_Silent_p.P480P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	480										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGGACTCGCCGCTGGCGCAGC	0.701000													17	2					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75185033	75185033	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:75185033C>T	ENST00000352410.4	+	4	444	c.377C>T	c.(376-378)cCg>cTg	p.P126L	MPI_ENST00000564003.1_Missense_Mutation_p.P76L|MPI_ENST00000566377.1_Missense_Mutation_p.P126L|MPI_ENST00000562606.1_Missense_Mutation_p.P106L|MPI_ENST00000565576.1_Missense_Mutation_p.P126L|MPI_ENST00000535694.1_Missense_Mutation_p.P76L|MPI_ENST00000563786.1_Missense_Mutation_p.P106L|MPI_ENST00000323744.6_Missense_Mutation_p.P126L|MPI_ENST00000563422.1_Missense_Mutation_p.P126L			P34949	MPI_HUMAN	mannose phosphate isomerase	126					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTCCAGGCTCCGCAGCACTAC	0.612000													36	30					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38568020	38568020	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:38568020A>G	ENST00000423485.1	-	8	998	c.840T>C	c.(838-840)gaT>gaC	p.D280D		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	280					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TACCAGTTTCATCCAACTTGT	0.338000													11	80					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110252320	110252320	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:110252320C>T	ENST00000418703.2	-	1	376	c.282G>A	c.(280-282)tcG>tcA	p.S94S	TRPV4_ENST00000392719.2_Silent_p.S94S|TRPV4_ENST00000544971.1_Silent_p.S94S|TRPV4_ENST00000537083.1_Silent_p.S94S|TRPV4_ENST00000536838.1_Silent_p.S60S|TRPV4_ENST00000261740.2_Silent_p.S94S|TRPV4_ENST00000346520.2_Silent_p.S94S|TRPV4_ENST00000541794.1_Silent_p.S94S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	94					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAGGCACCACCGAGGACTCAT	0.577000													11	41					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153642700	153642700	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153642700G>A	ENST00000361891.4	-	2	137	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ILF2_ENST00000368681.1_Silent_p.D4D	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	4					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACGGCCTCTGTCACCCCTAG	0.512000													20	67					0	0	1	0	0
CCT6P3	643180	broad.mit.edu	37	7	64530078	64530078	+	RNA	SNP	T	T	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:64530078T>A	ENST00000426828.1	+	0	898					NR_033416.1																						TGAATTCTTTTGAGGACCTAA	0.408000													42	27					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38306270	38306270	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:38306270A>G	ENST00000374618.3	+	4	384	c.206A>G	c.(205-207)gAg>gGg	p.E69G	ZNF33A_ENST00000307441.9_Missense_Mutation_p.E69G|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000458705.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E76G	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	69	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CAAGGAGAAGAGCCATGGAAA	0.433000													42	264					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038930	75038930	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:75038930C>T	ENST00000326665.5	-	14	2682	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	822	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AACTCTTCTGCCAATTCTGGC	0.572000													32	80					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20135612	20135612	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:20135612G>A	ENST00000395530.2	+	5	2210	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M	SPECC1_ENST00000395522.2_Missense_Mutation_p.V668M|SPECC1_ENST00000395525.3_Missense_Mutation_p.V668M|SPECC1_ENST00000261503.5_Missense_Mutation_p.V749M|SPECC1_ENST00000536879.1_Missense_Mutation_p.V89M|SPECC1_ENST00000584527.1_Missense_Mutation_p.V167M|SPECC1_ENST00000395527.4_Missense_Mutation_p.V749M|SPECC1_ENST00000395529.3_Missense_Mutation_p.V749M|SPECC1_ENST00000472876.1_3'UTR|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	749						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GCTGCGCACCGTGAAGAGGAA	0.637000													43	56					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885366	88885366	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:88885366G>T	ENST00000303236.3	-	9	1944	c.1643C>A	c.(1642-1644)cCt>cAt	p.P548H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P397H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	548					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TACCCTGTGAGGATGAGGATG	0.443000													40	60					9.62906e-15	1.13635e-14	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6645101	6645101	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:6645101A>G	ENST00000299441.3	-	21	8217	c.7806T>C	c.(7804-7806)ttT>ttC	p.F2602F		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2602	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCGGGTAAAGACAGGTG	0.572000													26	311					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55780162	55780162	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:55780162G>A	ENST00000373965.2	-	21	2956	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D	PCDH15_ENST00000395433.1_Silent_p.D825D|PCDH15_ENST00000395430.1_Silent_p.D847D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.D852D|PCDH15_ENST00000373955.1_Silent_p.D847D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Silent_p.D847D|PCDH15_ENST00000409834.1_Silent_p.D458D|PCDH15_ENST00000395432.2_Silent_p.D810D|PCDH15_ENST00000437009.1_Silent_p.D776D|PCDH15_ENST00000395445.1_Silent_p.D854D|PCDH15_ENST00000361849.3_Silent_p.D847D|PCDH15_ENST00000320301.6_Silent_p.D847D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	847	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGCTCCAAGGTCGACATCTT	0.398000										HNSCC(58;0.16)			87	31					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483053	12483053	+	Missense_Mutation	SNP	C	C	T	rs138511907		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:12483053C>T	ENST00000535902.1	-	4	1767	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	MANSC1_ENST00000545735.1_Missense_Mutation_p.V321I|MANSC1_ENST00000396349.3_Missense_Mutation_p.V368I			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	402						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCCAGGAGGACGAGGCCTATC	0.483000													33	42					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303392	153303392	+	Missense_Mutation	SNP	C	C	T	rs146118434	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153303392C>T	ENST00000368739.3	-	9	1319	c.961G>A	c.(961-963)Gca>Aca	p.A321T	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.A325T			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	325					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTGGGCTGCCTCTAGTGCT	0.542000													31	121					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69966598	69966598	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:69966598A>G	ENST00000358913.5	+	19	4219	c.3731A>G	c.(3730-3732)tAc>tGc	p.Y1244C	MYPN_ENST00000354393.2_Missense_Mutation_p.Y969C|MYPN_ENST00000540630.1_Missense_Mutation_p.Y1244C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1244	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCTGGATGGTACACGTTGTCA	0.468000													79	32					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590835	44590835	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:44590835G>A	ENST00000421176.3	+	5	1420	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATTCAAGTGCGACGGATGTGG	0.433000													14	150					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21141501	21141501	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:21141501A>G	ENST00000377122.4	-	10	1377	c.981T>C	c.(979-981)caT>caC	p.H327H	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	327					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATTGCCTTTATGGTGCAGAT	0.483000													43	86					0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8491643	8491643	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:8491643C>T	ENST00000602117.1	+	3	782	c.327C>T	c.(325-327)tgC>tgT	p.C109C	MARCH2_ENST00000381035.4_Silent_p.C109C|MARCH2_ENST00000601283.1_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Silent_p.C109C|MARCH2_ENST00000393944.1_Silent_p.C109C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	109					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GCGAGCTGTGCCACACGGAGT	0.607000													9	50					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71536591	71536591	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:71536591C>T	ENST00000370920.3	-	7	903	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R201Q	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	201	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TGAGCGACTTCGTCTATTAGA	0.403000													66	49					0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67220087	67220087	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67220087C>A	ENST00000312457.2	-	1	113	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCAGGGCCACCAGGAAGACC	0.667000													6	17					0.0215528	0.0218207	1	1	0
MARK1	4139	broad.mit.edu	37	1	220754423	220754423	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:220754423T>C	ENST00000366918.4	+	3	869	c.272T>C	c.(271-273)aTa>aCa	p.I91T	MARK1_ENST00000366917.4_Missense_Mutation_p.I91T|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	91	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GTGAAAATAATAGACAAAACT	0.234000													16	55					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35218339	35218339	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:35218339G>A	ENST00000428726.2	+	6	837	c.714G>A	c.(712-714)agG>agA	p.R238R	CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000437706.2_Silent_p.R238R|CD44_ENST00000433354.2_Silent_p.R238R|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000449691.2_Silent_p.R238R	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	238	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CAACCAAGAGGCAAGAAACCT	0.373000													16	87					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30978857	30978857	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30978857C>A	ENST00000262519.8	+	10	3404	c.2718C>A	c.(2716-2718)gcC>gcA	p.A906A		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	906	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTTCCGAGGCCAGTGAGGAAA	0.572000													59	237					1.31171e-36	1.63963e-36	1	1	0
C16orf91	283951	broad.mit.edu	37	16	1478413	1478413	+	Splice_Site	SNP	C	C	T	rs141111870	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:1478413C>T	ENST00000310355.1	-	2	237	c.238_splice	c.e2+1	p.A80_splice				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATTTCCTCACCCTTGGCGTCC	0.697000													5	28					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204380267	204380267	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:204380267C>T	ENST00000367188.4	-	1	652	c.273G>A	c.(271-273)atG>atA	p.M91I	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	91					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TGGTCGGAAACATTCCACCGA	0.562000													5	173					0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95840266	95840266	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:95840266G>A	ENST00000375472.3	+	3	452	c.416G>A	c.(415-417)cGc>cAc	p.R139H	SUSD3_ENST00000375469.1_Missense_Mutation_p.R126H	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	139						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGCGGCGGCGCTCCAACAGG	0.602000													4	70					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67693883	67693883	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:67693883C>A	ENST00000219251.8	-	2	745	c.414G>T	c.(412-414)ggG>ggT	p.G138G	ACD_ENST00000393919.4_Silent_p.G141G	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	141					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCAGCGTGGCCCCGACGTCGG	0.716000													20	19					1.50039e-11	1.72772e-11	1	1	0
HID1	283987	broad.mit.edu	37	17	72960578	72960578	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:72960578C>A	ENST00000425042.2	-	2	293	c.216_splice	c.e2+1	p.K72_splice	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		CAGCCCTCACCTTGTAGCACA	0.667000													8	7					1.12685e-05	1.21419e-05	1	1	0
MAN2B1	4125	broad.mit.edu	37	19	12767812	12767812	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12767812C>T	ENST00000456935.2	-	12	1518	c.1478G>A	c.(1477-1479)tGc>tAc	p.C493Y	MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Missense_Mutation_p.C492Y	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	493					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAGCTGTTGGCAAAAGGTGAA	0.627000													4	40					0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2291274	2291274	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:2291274G>A	ENST00000585527.1	-	1	749	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	LINGO3_ENST00000404279.1_Missense_Mutation_p.R168C			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	168						integral to membrane				lung(1)|urinary_tract(1)	2						GCGAAGGCGCGGCGCGAGACG	0.667000													4	59					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76568838	76568838	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:76568838G>T	ENST00000389840.5	-	3	608	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	DNAH17_ENST00000585328.1_Missense_Mutation_p.L162M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAATAGGCAGCAAGGTTTTG	0.587000													8	30					0.000157383	0.000166744	1	1	0
ASCL1	429	broad.mit.edu	37	12	103352503	103352503	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:103352503C>T	ENST00000266744.3	+	1	1040	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	161	Helix-loop-helix motif.				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GGAGACACTGCGCTCGGCGGT	0.657000													25	39					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75526247	75526247	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:75526247C>T	ENST00000339365.2	+	13	1909	c.1747C>T	c.(1747-1749)Ctg>Ttg	p.L583L	SEC24C_ENST00000345254.4_Silent_p.L583L|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L464L|SEC24C_ENST00000546025.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	583					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTTTGTGCCACTGCTGGATGG	0.507000													6	38					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109526	228109526	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:228109526G>A	ENST00000272164.5	-	4	801	c.791C>T	c.(790-792)gCa>gTa	p.A264V	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	264					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GATGGCACCTGCCTCGCCGGC	0.662000													30	77					0	0	1	0	0
C19orf80	55908	broad.mit.edu	37	19	11350481	11350481	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:11350481G>A	ENST00000252453.8	+	1	187	c.168G>A	c.(166-168)acG>acA	p.T56T	C19orf80_ENST00000591200.1_Intron|DOCK6_ENST00000294618.7_Intron	NM_018687.6	NP_061157.3	Q6UXH0	TD26_HUMAN	chromosome 19 open reading frame 80	56						extracellular region				NS(1)|breast(1)|endometrium(2)	4						ACAGGACCACGGAGGGACGGC	0.657000													3	18					0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73716905	73716905	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:73716905T>C	ENST00000314032.4	-	4	963	c.411A>G	c.(409-411)acA>acG	p.T137T	UCP3_ENST00000426995.2_Silent_p.T137T|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	137					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCACCACATCTGTGGGCTGGG	0.612000													22	43					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39993776	39993776	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:39993776C>T	ENST00000332312.3	-	2	381	c.189G>A	c.(187-189)gtG>gtA	p.V63V		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	63	EMI.					proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CATTCCTGTGCACCACATAGG	0.597000													7	67					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20180466	20180466	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:20180466G>A	ENST00000245957.5	+	17	1928	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	618										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTGGTTCCCGTGCGACCACG	0.532000													39	191					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35715212	35715212	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:35715212G>A	ENST00000373866.3	+	4	640		c.e4+1		ARMC12_ENST00000373869.3_Splice_Site|ARMC12_ENST00000288065.2_Splice_Site			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12								binding										CCTGGCACAGGTGCCTGAGGA	0.572000													20	90					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622503	38622503	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:38622503G>A	ENST00000413689.1	-	17	3340	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	SCN5A_ENST00000333535.4_Silent_p.I1049I|SCN5A_ENST00000423572.2_Silent_p.I1049I|SCN5A_ENST00000414099.2_Silent_p.I1049I|SCN5A_ENST00000455624.2_Silent_p.I1049I|SCN5A_ENST00000451551.2_Silent_p.I1049I|SCN5A_ENST00000450102.2_Silent_p.I1049I|SCN5A_ENST00000449557.2_Silent_p.I1049I|SCN5A_ENST00000425664.1_Silent_p.I1049I|SCN5A_ENST00000443581.1_Silent_p.I1049I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1049					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGCCACAGCGATGGGCACAC	0.637000													34	7					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145008885	145008885	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:145008885T>C	ENST00000322810.4	-	10	1539	c.1370A>G	c.(1369-1371)cAg>cGg	p.Q457R	PLEC_ENST00000356346.3_Missense_Mutation_p.Q306R|PLEC_ENST00000345136.3_Missense_Mutation_p.Q320R|PLEC_ENST00000398774.2_Missense_Mutation_p.Q288R|PLEC_ENST00000354589.3_Missense_Mutation_p.Q320R|PLEC_ENST00000527096.1_Missense_Mutation_p.Q343R|PLEC_ENST00000354958.2_Missense_Mutation_p.Q298R|PLEC_ENST00000357649.2_Missense_Mutation_p.Q324R|PLEC_ENST00000436759.2_Missense_Mutation_p.Q347R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	457	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCAGGAACTGAGACCACAG	0.632000													24	125					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896227	13896227	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:13896227G>T	ENST00000285018.4	-	3	676	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	124					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGTTGCCCTGGGTACAGGCAG	0.647000													32	53					2.81731e-10	3.20533e-10	1	1	0
PLAGL1	5325	broad.mit.edu	37	6	144263510	144263510	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:144263510G>A	ENST00000360537.2	-	5	2356	c.443C>T	c.(442-444)cCt>cTt	p.P148L	PLAGL1_ENST00000437412.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000429150.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000367572.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000416623.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000367571.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000392307.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000392309.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000354765.2_Missense_Mutation_p.P148L|PLAGL1_ENST00000444202.1_Missense_Mutation_p.P148L			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	148					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTTCCGCTAGGGGGCTTCTC	0.607000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	62					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													3	5					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16307061	16307061	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:16307061A>G	ENST00000244769.4	-	9	2883	c.1947T>C	c.(1945-1947)ccT>ccC	p.P649P	ATXN1_ENST00000436367.1_Silent_p.P649P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	649	AXH.|Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ACACAAAAAAAGGATACTCTA	0.458000													22	96					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230744733	230744733	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:230744733G>A	ENST00000283943.5	-	2	241	c.63C>T	c.(61-63)gcC>gcT	p.A21A	TRIP12_ENST00000409677.1_Silent_p.A21A|TRIP12_ENST00000389044.4_Silent_p.A21A|TRIP12_ENST00000389045.3_Silent_p.A21A|TRIP12_ENST00000543084.1_Silent_p.A21A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	21					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTTGGGCCCCGGCAGTGTTCC	0.453000													56	89					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706187	92706187	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:92706187A>G	ENST00000318445.6	+	10	2169	c.1955A>G	c.(1954-1956)tAt>tGt	p.Y652C	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.Y652C|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	652					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AGGAAAAACTATAAACGCTAC	0.542000													32	39					0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199531	178199531	+	RNA	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:178199531C>T	ENST00000503486.2	-	0	1004					NR_024035.1																						GGCTGGAAGGCGTGCCCAGAG	0.587000													17	2					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49167847	49167847	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:49167847C>A	ENST00000270235.4	-	3	904	c.809G>T	c.(808-810)aGg>aTg	p.R270M	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	270	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TCTGCAGGCCCTGCGGCTGAA	0.672000													4	39					0.00909568	0.0092416	1	1	0
RUNDC3A	10900	broad.mit.edu	37	17	42390845	42390845	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:42390845G>T	ENST00000426726.3	+	4	706	c.432G>T	c.(430-432)acG>acT	p.T144T	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	144	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACATCACCACGGCTCTGCGTG	0.567000													13	67					1.5739e-10	1.79784e-10	1	1	0
QKI	9444	broad.mit.edu	37	6	163984541	163984541	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:163984541C>T	ENST00000361752.3	+	6	1275	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	QKI_ENST00000453779.2_Missense_Mutation_p.R242C|QKI_ENST00000275262.7_Missense_Mutation_p.R242C|QKI_ENST00000392127.2_Missense_Mutation_p.R242C|QKI_ENST00000361195.2_Missense_Mutation_p.R234C|QKI_ENST00000424802.3_Missense_Mutation_p.R234C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	242					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGCTGCCCTGCGTACTCCTAC	0.557000													19	62					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44907702	44907702	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:44907702C>T	ENST00000261866.7	-	16	2913	c.2897G>A	c.(2896-2898)cGt>cAt	p.R966H	SPG11_ENST00000535302.2_Missense_Mutation_p.R966H|SPG11_ENST00000427534.2_Missense_Mutation_p.R966H|SPG11_ENST00000558319.1_Missense_Mutation_p.R966H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	966					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTCCAATACGGCTCAGTCT	0.403000													21	83					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26572134	26572134	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:26572134T>G	ENST00000381340.3	-	50	7374	c.6958A>C	c.(6958-6960)Att>Ctt	p.I2320L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2320					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGAAAAACAATTTTATTACAA	0.413000													20	63					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55110883	55110883	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:55110883T>C	ENST00000505374.1	+	20	1962	c.1870T>C	c.(1870-1872)Tat>Cat	p.Y624H	DDX4_ENST00000353507.5_Missense_Mutation_p.Y590H|DDX4_ENST00000511853.1_Missense_Mutation_p.Y475H|DDX4_ENST00000514278.2_Missense_Mutation_p.Y604H|DDX4_ENST00000354991.5_Missense_Mutation_p.Y590H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	624	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CATTGATGAATATGTTCATCG	0.418000													74	22					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													10	140					0.000442599	0.000465464	1	1	0
ZNF808	388558	broad.mit.edu	37	19	53058406	53058406	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:53058406A>G	ENST00000359798.4	+	5	2417	c.2237A>G	c.(2236-2238)cAg>cGg	p.Q746R		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	746					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACGTTCAGTCAGAAGGCAACC	0.458000													31	267					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120942767	120942767	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:120942767C>T	ENST00000288532.6	-	5	741	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	COQ5_ENST00000445328.2_Missense_Mutation_p.R160Q	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	234					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCAGCACCCGATGAGCTTC	0.478000													24	35					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30723592	30723592	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:30723592C>T	ENST00000262518.4	+	13	2210	c.1825C>T	c.(1825-1827)Ccc>Tcc	p.P609S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P609S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P609S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	609					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGTAAAGACGCCCATTCCCCT	0.498000													9	156					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	64000924	64000924	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:64000924G>A	ENST00000373789.3	-	4	443	c.347C>T	c.(346-348)tCt>tTt	p.S116F	RTKN2_ENST00000395265.1_Missense_Mutation_p.S116F|RTKN2_ENST00000395260.3_Missense_Mutation_p.S116F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	116					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GAAGTGATCAGAGTCTTTCCA	0.289000													4	31					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15514777	15514777	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:15514777C>T	ENST00000281513.5	-	31	3683	c.3658G>A	c.(3658-3660)Gtt>Att	p.V1220I	NBAS_ENST00000441750.1_Missense_Mutation_p.V1100I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1220								p.V1220I(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGACATCCAACGGCTTGGATA	0.378000													93	113					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951474	235951474	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:235951474C>T	ENST00000409212.1	+	4	2568	c.2061C>T	c.(2059-2061)agC>agT	p.S687S	SH3BP4_ENST00000392011.2_Silent_p.S687S|SH3BP4_ENST00000344528.4_Silent_p.S687S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	687					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCCTGCTCAGCGAGGAGCGGG	0.612000													40	35					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279559	1279559	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:1279559G>A	ENST00000447027.1	+	43	16622		c.e43-1		MUC5B_ENST00000529681.1_Splice_Site			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTTCCTTCCAGGACCTCAGCT	0.637000													6	45					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165378627	165378627	+	Splice_Site	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:165378627T>C	ENST00000263915.3	-	6	1217	c.678_splice	c.e6-1	p.M227_splice	GRB14_ENST00000543549.1_Splice_Site_p.M140_splice	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	227					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTCAGAAACATCTGAAAGAAA	0.269000													37	69					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44533677	44533677	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:44533677C>A	ENST00000477313.1	-	8	1380	c.786G>T	c.(784-786)cgG>cgT	p.R262R	PLTP_ENST00000372420.1_Silent_p.R174R|PLTP_ENST00000372431.3_Silent_p.R262R|PLTP_ENST00000542937.1_Silent_p.R282R|PLTP_ENST00000354050.4_Silent_p.R210R|PLTP_ENST00000420868.2_Silent_p.R167R			P55058	PLTP_HUMAN	phospholipid transfer protein	262					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CATACACCATCCGCTCTTCCT	0.627000													13	93					7.03913e-09	7.86726e-09	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31094295	31094295	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:31094295C>T	ENST00000300850.5	+	3	5670	c.5381C>T	c.(5380-5382)gCc>gTc	p.A1794V	ZNF646_ENST00000394979.2_3'UTR	NM_014699.3	NP_055514.3	O15015	ZN646_HUMAN	zinc finger protein 646	1630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCCCCAGGAGCCCCAGTGGCA	0.692000													3	13					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224777016	224777016	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:224777016T>C	ENST00000233055.4	-	3	335	c.233A>G	c.(232-234)cAt>cGt	p.H78R		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	78						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTGCTGTCATGATGGTAAGC	0.368000													5	88					0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59967980	59967980	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:59967980A>G	ENST00000554271.1	+	6	1280	c.754A>G	c.(754-756)Ata>Gta	p.I252V	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Missense_Mutation_p.I232V|JKAMP_ENST00000356057.5_Missense_Mutation_p.I246V|JKAMP_ENST00000261247.9_Missense_Mutation_p.I238V			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	253					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCTTCTGAAATAGAGGTAGG	0.313000													27	35					0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48078707	48078707	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:48078707G>T	ENST00000397637.1	+	7	1659	c.705G>T	c.(703-705)aaG>aaT	p.K235N	PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000451211.2_Missense_Mutation_p.K235N|PRMT2_ENST00000397638.2_Missense_Mutation_p.K235N|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000355680.3_Missense_Mutation_p.K235N			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	235	Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CCTGGCTGAAGGAGGACGGGG	0.562000													12	25					1.61879e-10	1.84542e-10	1	1	0
TTN	7273	broad.mit.edu	37	2	179604446	179604446	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:179604446T>C	ENST00000589042.1	-	48	13738	c.13514A>G	c.(13513-13515)gAa>gGa	p.E4505G	TTN_ENST00000460472.2_Missense_Mutation_p.E4142G|TTN_ENST00000342175.6_Missense_Mutation_p.E4334G|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4267G|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4188G|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4188	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCATTTCTTCTTGCAAACT	0.378000													114	130					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965527	9965527	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:9965527C>A	ENST00000264833.4	-	6	885	c.700G>T	c.(700-702)Gat>Tat	p.D234Y	OLFM2_ENST00000590841.1_Missense_Mutation_p.D156Y	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	234	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TAATAGCCATCCATGTACCAG	0.587000													3	16					2.56e-06	2.76888e-06	1	1	0
ANKDD1A	348094	broad.mit.edu	37	15	65226380	65226380	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:65226380G>T	ENST00000380230.3	+	9	842	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E180D|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E271D|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E271D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	271					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GTGGCTCGGAGGATGTGTCTC	0.527000													12	56					8.60227e-14	1.00891e-13	1	1	0
CBX2	84733	broad.mit.edu	37	17	77758304	77758304	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:77758304G>T	ENST00000310942.4	+	5	1166	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	354					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGAGCCTCCAGGTCTTGGACT	0.701000													13	29					0.00136819	0.00142312	1	1	0
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			69	21					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38780887	38780887	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:38780887C>T	ENST00000301244.7	+	5	955	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	SPINT2_ENST00000454580.3_Missense_Mutation_p.R117C|SPINT2_ENST00000587090.1_Missense_Mutation_p.R124C|CTB-102L5.4_ENST00000591889.1_Silent_p.T51T	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	174	BPTI/Kunitz inhibitor 2.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAACAGCTACCGCTCTGAGGA	0.602000													6	34					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79182779	79182779	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:79182779C>A	ENST00000269392.4	-	3	468	c.221G>T	c.(220-222)aGa>aTa	p.R74I	AZI1_ENST00000575907.1_Missense_Mutation_p.R74I|AZI1_ENST00000374782.3_Missense_Mutation_p.R74I|AZI1_ENST00000450824.2_Missense_Mutation_p.R74I	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	74					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTGGATCTTCTAAGGTTGTT	0.587000													13	14					1.05317e-09	1.18873e-09	1	1	0
IGHV3-43	28426	broad.mit.edu	37	14	106926491	106926491	+	RNA	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:106926491G>A	ENST00000434710.1	-	0	130																											CTTCACACTGGACACCTGCAA	0.517000													54	332					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389133	19389133	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:19389133G>A	ENST00000338883.4	-	24	3343	c.3344C>T	c.(3343-3345)gCg>gTg	p.A1115V	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A550V|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A947V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1115							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTTGTCCATCGCGAACATCCA	0.433000													12	51					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5074001	5074001	+	Missense_Mutation	SNP	C	C	T	rs146195872		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:5074001C>T	ENST00000574788.1	+	36	5975	c.3745C>T	c.(3745-3747)Cgg>Tgg	p.R1249W	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R932W|USP6_ENST00000250066.6_Missense_Mutation_p.R1249W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1249					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGCATATGCGGGGGGGCAG	0.542000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								18	54					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17316491	17316491	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:17316491T>C	ENST00000452699.1	-	22	2594	c.2405A>G	c.(2404-2406)gAc>gGc	p.D802G	ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000326735.8_Missense_Mutation_p.D807G|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	807					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCAGCCTGGTCAGGATCCTG	0.647000													13	2					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747316	62747316	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:62747316G>A	ENST00000377871.3	-	7	1408	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	SLC22A6_ENST00000458333.2_Missense_Mutation_p.A381V|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A381V|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A381V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	381					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACAAGCTTGGCAGGCAGGTC	0.582000													37	32					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10671086	10671086	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10671086A>G	ENST00000312962.6	-	9	739	c.720T>C	c.(718-720)gaT>gaC	p.D240D	KRI1_ENST00000361821.5_Silent_p.D236D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	240	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCTCCCCTTCATCCAACTCAG	0.552000													10	140					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81297536	81297536	+	Missense_Mutation	SNP	C	C	T	rs142727794		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:81297536C>T	ENST00000555265.1	-	13	1535	c.1160G>A	c.(1159-1161)tGc>tAc	p.C387Y	CEP128_ENST00000216517.6_Missense_Mutation_p.C387Y|CEP128_ENST00000281129.3_Missense_Mutation_p.C387Y			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	387						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCTCCATGCACCGTTTCAC	0.408000													6	182					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883949	110883949	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:110883949A>T	ENST00000369784.3	+	1	2822	c.1922A>T	c.(1921-1923)aAg>aTg	p.K641M	RBM15_ENST00000487146.2_Missense_Mutation_p.K641M|RBM15_ENST00000602849.1_Missense_Mutation_p.K641M	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	641	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGCCTAGGAAGCGAAGGCTG	0.597000			T	MKL1	acute megakaryocytic leukemia								10	41					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71523156	71523156	+	Missense_Mutation	SNP	A	A	T	rs139952436	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:71523156A>T	ENST00000393330.2	-	11	1167	c.615T>A	c.(613-615)aaT>aaA	p.N205K	TSPAN8_ENST00000552128.1_Missense_Mutation_p.N122K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.N205K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.N205K			P19075	TSN8_HUMAN	tetraspanin 8	205					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCA	0.269000													9	47					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922549	48922549	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:48922549C>T	ENST00000263269.3	+	8	1882	c.1794C>T	c.(1792-1794)gcC>gcT	p.A598A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	598						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTGTGGTCGCCGTCACTGTTT	0.602000													4	60					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996938	62996938	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:62996938C>A	ENST00000306494.6	-	1	186	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	63					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCCCAGGGTCATTGTCAGGG	0.502000													35	73					5.8336e-16	6.98562e-16	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140482612	140482612	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140482612T>C	ENST00000231130.2	+	1	2379	c.2379T>C	c.(2377-2379)ttT>ttC	p.F793F		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		793					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGAGCTTTGAATTCAGTT	0.428000													44	55					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22779092	22779092	+	RNA	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:22779092C>T	ENST00000600260.1	+	0	34					NR_033899.1																						CACAGCTGCGCGGTGGCAGAC	0.607000													6	5					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83711849	83711849	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:83711849C>T	ENST00000566620.1	+	10	1611	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	CDH13_ENST00000268613.10_Silent_p.L488L|CDH13_ENST00000428848.3_Silent_p.L402L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	441	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACACCCTGCTGATCAAAGT	0.542000													27	37					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246910	56246910	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:56246910G>A	ENST00000361673.3	-	4	1311	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	366							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATGCTCACCGAATTCCATCT	0.512000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	35					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11964389	11964389	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:11964389A>G	ENST00000339865.5	+	19	3380	c.2617A>G	c.(2617-2619)Att>Gtt	p.I873V	USP47_ENST00000399455.2_Missense_Mutation_p.I961V|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.I941V	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	961					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGACAGTGATATTCTTAGCTC	0.408000													9	137					0	0	1	0	0
HCRT	3060	broad.mit.edu	37	17	40336494	40336494	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:40336494G>A	ENST00000293330.1	-	2	160	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	25					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle				breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CGACAACAGCGCGGgcggcag	0.701000													12	13					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104054933	104054933	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:104054933C>T	ENST00000265148.3	-	41	6728	c.6639G>A	c.(6637-6639)caG>caA	p.Q2213Q	CENPE_ENST00000380026.3_Silent_p.Q2092Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2213	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTTGAAGGTGCTGTATTTTAA	0.284000													30	12					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266069	75266069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:75266069C>T	ENST00000325680.7	+	5	4193	c.4069C>T	c.(4069-4071)Cga>Tga	p.R1357*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1162*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.R1357*(1)|p.R1162*(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAAAGAAATCGAGAGCATGG	0.473000													18	186					0	0	1	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54682246	54682246	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:54682246C>T	ENST00000355221.3	-	10	1612	c.1053G>A	c.(1051-1053)gtG>gtA	p.V351V	ATP6V1H_ENST00000523899.1_5'UTR|ATP6V1H_ENST00000520188.1_Silent_p.V329V|ATP6V1H_ENST00000359530.2_Silent_p.V369V|ATP6V1H_ENST00000396774.2_Silent_p.V369V	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	369					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CAGATTTGTGCACAGGACTCC	0.313000													5	100					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528599	157528599	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:157528599G>T	ENST00000346085.5	+	20	6325	c.6324G>T	c.(6322-6324)caG>caT	p.Q2108H	ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2095H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2090H|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2148H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2095					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTAGTCGTCAGGAGAAATTCT	0.488000													36	419					3.03874e-20	3.68528e-20	1	1	0
ALDH6A1	4329	broad.mit.edu	37	14	74535660	74535660	+	Missense_Mutation	SNP	G	G	T	rs139579994	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:74535660G>T	ENST00000553458.1	-	7	853	c.755C>A	c.(754-756)cCg>cAg	p.P252Q	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.P239Q|ALDH6A1_ENST00000555126.1_5'UTR|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	252						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TTTGATGTCCGGATGATCGCA	0.418000													4	70					0.00909568	0.0092416	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144915504	144915504	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:144915504G>C	ENST00000529945.1	-	10	2849	c.2410C>G	c.(2410-2412)Cat>Gat	p.H804D	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H428D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H804D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H778D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H778D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H707D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	641					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCATTTCATGTTCCAGCACT	0.488000			T	PDGFRB	MPD								18	295					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179005	34179005	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:34179005G>A	ENST00000266483.2	+	3	896	c.577G>A	c.(577-579)Gct>Act	p.A193T	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	193					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TATCATCTGGGCTGTCTTCTG	0.398000													5	304					0	0	1	0	0
MESDC1	59274	broad.mit.edu	37	15	81295526	81295526	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:81295526G>A	ENST00000267984.2	+	1	2232	c.914G>A	c.(913-915)tGc>tAc	p.C305Y		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	305										endometrium(1)|lung(2)	3						CTGACCCAGTGCCTCAGGGAT	0.711000													6	9					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139893	50139893	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:50139893G>T	ENST00000371564.3	-	2	1106	c.887C>A	c.(886-888)cCt>cAt	p.P296H	NFATC2_ENST00000414705.1_Missense_Mutation_p.P276H|NFATC2_ENST00000396009.3_Missense_Mutation_p.P296H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	296					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCAGCCACAGGGGGGTACCC	0.706000													13	39					7.93312e-07	8.62954e-07	1	1	0
ZNF384	171017	broad.mit.edu	37	12	6781536	6781536	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:6781536G>A	ENST00000396801.3	-	8	1281	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000361959.3_Silent_p.S358S|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000355772.4_Intron	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GCTGGAGGTGGGAGAGCTGGC	0.667000			T	"""EWSR1, TAF15 """	ALL								22	28					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345817	33345817	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:33345817G>T	ENST00000374796.2	-	8	3304	c.734C>A	c.(733-735)cCt>cAt	p.P245H	NCOA6_ENST00000359003.2_Missense_Mutation_p.P245H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	245	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACAGAGACAGGCTGCATTGG	0.507000													5	154					0.00116845	0.00121758	1	1	0
ZNF821	55565	broad.mit.edu	37	16	71894095	71894095	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:71894095C>T	ENST00000425432.1	-	8	1444	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000446827.2_Silent_p.R313R|ZNF821_ENST00000313565.6_Silent_p.R313R|ZNF821_ENST00000565601.1_Silent_p.R355R|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TTTTCTCCAGCCTCCTCTTGA	0.587000													25	78					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73408516	73408516	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:73408516G>A	ENST00000553457.1	+	4	405	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	DCAF4_ENST00000555042.1_Missense_Mutation_p.V139I|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Missense_Mutation_p.V39I|DCAF4_ENST00000358377.2_Missense_Mutation_p.V139I|DCAF4_ENST00000353777.3_Intron			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	139						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TTTTCTCAACGTCACCAATTA	0.358000													33	184					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13071733	13071733	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:13071733A>G	ENST00000399002.2	+	5	884	c.610A>G	c.(610-612)Acc>Gcc	p.T204A	SPTLC3_ENST00000378194.4_Missense_Mutation_p.T204A	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	204					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGTGCAGGCACCTTGGATAA	0.428000													42	176					0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177679	146177679	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:146177679G>A	ENST00000497985.1	-	4	671	c.232C>T	c.(232-234)Cca>Tca	p.P78S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.P5S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	5					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AATGGTGGTGGTGGTGCTGGC	0.443000													24	66					0	0	1	0	0
TUBE1	51175	broad.mit.edu	37	6	112395985	112395985	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:112395985G>A	ENST00000368662.5	-	9	959	c.881C>T	c.(880-882)cCt>cTt	p.P294L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	294					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ATGAAGTTGAGGAAAAGGAAC	0.333000													26	58					0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35689769	35689769	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:35689769C>G	ENST00000378292.3	-	1	1248	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	TPM2_ENST00000378300.5_Missense_Mutation_p.E16Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E16Q|TPM2_ENST00000360958.2_Missense_Mutation_p.E16Q	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	16					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCGTTCTCCTTGTCCAGC	0.672000													137	52					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73479974	73479974	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:73479974C>T	ENST00000523207.1	+	2	593	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	2					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTCAAAATGGCAGAAAAGGCT	0.512000													27	120					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50026874	50026874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:50026874G>A	ENST00000261897.1	+	6	893	c.342G>A	c.(340-342)tgG>tgA	p.W114*	PRPF40B_ENST00000548825.2_Nonsense_Mutation_p.W142*|PRPF40B_ENST00000380281.1_Nonsense_Mutation_p.W120*			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	120	WW 1.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGTCCGTGTGGGAGAAGCCCA	0.617000													5	18					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11515122	11515122	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:11515122A>G	ENST00000579828.1	+	4	958	c.929A>G	c.(928-930)cAa>cGa	p.Q310R	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000262442.3_Intron|DNAH9_ENST00000579406.1_Intron			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	0	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTTTCACAAATGTGTTTG	0.453000													4	115					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943802	53943802	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:53943802A>G	ENST00000263634.3	-	6	817	c.683T>C	c.(682-684)gTg>gCg	p.V228A	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V155A|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V266A|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.V263A|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V155A	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		263					intracellular signal transduction												CAAAAGCTCCACACATTTTGT	0.443000													4	128					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197094316	197094316	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:197094316G>A	ENST00000367409.4	-	11	3198	c.2942C>T	c.(2941-2943)aCc>aTc	p.T981I	ASPM_ENST00000294732.7_Missense_Mutation_p.T981I|ASPM_ENST00000367408.1_Missense_Mutation_p.T231I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	981	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTTCCATGGTTCGCCTGGC	0.368000													19	103					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648753	57648753	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:57648753C>A	ENST00000402412.1	-	24	3166	c.2776G>T	c.(2776-2778)Ggg>Tgg	p.G926W	R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.G946W|R3HDM2_ENST00000393811.2_Missense_Mutation_p.G639W|R3HDM2_ENST00000358907.2_Missense_Mutation_p.G912W|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.G607W|R3HDM2_ENST00000347140.3_Missense_Mutation_p.G912W			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	912						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTGTTGTCCCCCCCACCCCCT	0.632000													17	65					1.15088e-07	1.26397e-07	1	1	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15323555	15323555	+	RNA	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:15323555T>C	ENST00000344693.5	-	0	847					NR_027270.1																						TTAATTACCTTCAAGGAAGGA	0.323000													53	264					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128640604	128640604	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:128640604C>T	ENST00000393245.1	-	7	1263	c.890G>A	c.(889-891)cGt>cAt	p.R297H	TNPO3_ENST00000482320.1_Missense_Mutation_p.R231H|TNPO3_ENST00000265388.5_Missense_Mutation_p.R297H|TNPO3_ENST00000471234.1_Missense_Mutation_p.R297H|TNPO3_ENST00000471166.1_Missense_Mutation_p.R297H	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	297					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGTGAAAATACGGCAGTAATT	0.378000													25	60					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	907526	907526	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:907526T>C	ENST00000379409.2	+	8	1047	c.1017T>C	c.(1015-1017)atT>atC	p.I339I	PLEKHN1_ENST00000379407.2_Silent_p.I299I|PLEKHN1_ENST00000379410.3_Silent_p.I287I			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	339	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCTTCCTGATTGAAGGTAGGG	0.667000													18	47					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671906	49671906	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:49671906G>T	ENST00000252826.5	+	6	835	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.D237Y	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	237					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTGGTGGACGACGGCACACA	0.652000													22	16					2.37509e-13	2.77988e-13	1	1	0
MKNK2	2872	broad.mit.edu	37	19	2037829	2037829	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:2037829C>A	ENST00000309340.7	-	14	1379		c.e14-1		MKNK2_ENST00000591601.1_3'UTR|MKNK2_ENST00000591142.1_Splice_Site|MKNK2_ENST00000250896.3_3'UTR	NM_017572.3	NP_060042.2	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2						cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGTCCCACCTTCAGAAAAA	0.542000													13	12					5.01169e-05	5.37978e-05	1	1	0
IL17B	27190	broad.mit.edu	37	5	148756445	148756445	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622000													54	17					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18964096	18964096	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:18964096C>T	ENST00000262803.5	+	8	1365	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	UPF1_ENST00000599848.1_Missense_Mutation_p.R376W	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	376	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GATATGCCTGCGGTACAAAGG	0.567000													20	72					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3212126	3212126	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3212126G>A	ENST00000380059.3	-	8	1028	c.927C>T	c.(925-927)cgC>cgT	p.R309R	SLC4A11_ENST00000380056.3_Silent_p.R282R|SLC4A11_ENST00000539553.1_Silent_p.R266R|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	282					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGAGCTTCTGGCGGAAGGCGA	0.592000													48	97					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17309065	17309065	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:17309065G>A	ENST00000595618.1	+	24	4338	c.4186G>A	c.(4186-4188)Gca>Aca	p.A1396T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A1396T|MYO9B_ENST00000594824.1_Missense_Mutation_p.A1396T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1396	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAGGCGACGCATCCTCCCT	0.622000													9	61					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39870622	39870622	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39870622A>G	ENST00000314471.6	+	12	2582	c.1547A>G	c.(1546-1548)cAg>cGg	p.Q516R	SAMD4B_ENST00000598913.1_Missense_Mutation_p.Q516R|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	516							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGGAGACGCAGAAGAAACGG	0.527000													16	14					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61443806	61443806	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:61443806C>T	ENST00000370461.1	+	5	2960	c.683C>T	c.(682-684)cCc>cTc	p.P228L	OGFR_ENST00000370468.3_Missense_Mutation_p.P280L|OGFR_ENST00000290291.6_Missense_Mutation_p.P280L			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	280					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CACTTCCGGCCCCGCTGCAAG	0.677000													3	12					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35615073	35615073	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:35615073G>A	ENST00000540320.1	+	2	832	c.298G>A	c.(298-300)Gtt>Att	p.V100I	NBEA_ENST00000310336.4_Missense_Mutation_p.V100I|NBEA_ENST00000400445.3_Missense_Mutation_p.V100I|NBEA_ENST00000379939.2_Missense_Mutation_p.V100I			Q8NFP9	NBEA_HUMAN	neurobeachin	100						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTCAGCTGGTTGGTGGAGA	0.358000													9	102					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93185102	93185102	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:93185102A>G	ENST00000393218.2	-	4	563	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	LGMN_ENST00000334869.4_Missense_Mutation_p.Y76H|LGMN_ENST00000555699.1_Missense_Mutation_p.Y76H|LGMN_ENST00000557434.1_Missense_Mutation_p.Y76H	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	76					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCTTCAGAGTAAGCAATGTCA	0.473000													32	158					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848958	29848958	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:29848958C>T	ENST00000325874.8	+	6	1013	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R160W	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	262	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.R262W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TAGGAAAATGCGGCACGTGTA	0.502000													12	58					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36228057	36228057	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:36228057C>A	ENST00000251195.5	-	5	866	c.770G>T	c.(769-771)gGg>gTg	p.G257V	CLSPN_ENST00000520551.1_Missense_Mutation_p.G257V|CLSPN_ENST00000373220.3_Missense_Mutation_p.G257V|CLSPN_ENST00000318121.3_Missense_Mutation_p.G257V			Q9HAW4	CLSPN_HUMAN	claspin	257					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAATGGACCCCACTCTCCAA	0.393000													22	56					1.10513e-12	1.29083e-12	1	1	0
SLC34A1	6569	broad.mit.edu	37	5	176824887	176824887	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:176824887G>A	ENST00000324417.5	+	13	1611	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	507					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGGAAACGCACGGCCAAG	0.607000													35	43					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4788779	4788779	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:4788779G>A	ENST00000355280.6	+	7	706	c.508_splice	c.e7-1	p.V170_splice	MINK1_ENST00000453408.3_Splice_Site_p.V170_splice|MINK1_ENST00000347992.7_Splice_Site_p.V170_splice	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	170	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTTCACAGTGGATTTTGGGG	0.592000													7	89					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11090928	11090928	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:11090928C>T	ENST00000400897.3	-	9	1114	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	367	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCAGGAGGGCCACAGTCAACA	0.498000													11	33					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128261070	128261070	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:128261070C>A	ENST00000295321.4	-	4	1561	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	IWS1_ENST00000455721.2_Missense_Mutation_p.K441N|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	434	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ATGCTATGGTCTTCTCTCTTT	0.428000													47	72					1.06522e-23	1.30016e-23	1	1	0
PAPD7	11044	broad.mit.edu	37	5	6737711	6737711	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:6737711G>A	ENST00000230859.6	+	2	184	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	19					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAACGGATCGAAACTGTGGT	0.433000													26	34					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46385823	46385823	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:46385823C>T	ENST00000256413.3	+	12	1985	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	CTIF_ENST00000382998.4_Missense_Mutation_p.R566W	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	564	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CATGCTGACCCGGTCGCTGCT	0.602000													23	82					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272474	65272474	+	RNA	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:65272474C>T	ENST00000534336.1	+	0	7242					NR_002819.2																						CACCAGTGGACAAAATGAGGA	0.368000													8	26					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40802507	40802507	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:40802507G>A	ENST00000248929.9	+	10	1215	c.1026G>A	c.(1024-1026)tcG>tcA	p.S342S	SGSM3_ENST00000454798.2_Silent_p.S275S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	342					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ATATCCCGTCGCAGATGGAGG	0.642000													11	28					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10673446	10673446	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10673446G>A	ENST00000312962.6	-	4	379	c.360C>T	c.(358-360)taC>taT	p.Y120Y	KRI1_ENST00000361821.5_Silent_p.Y116Y|KRI1_ENST00000537964.1_Intron	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	120	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGTCCTTCAGGTACATGGGCC	0.562000													45	137					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170031767	170031767	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:170031767C>T	ENST00000263816.3	-	55	10989	c.10704G>A	c.(10702-10704)ccG>ccA	p.P3568P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3568	LDL-receptor class A 27.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAAAGTCTGCGGGCTGGTGC	0.527000													8	84					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131476934	131476934	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:131476934C>A	ENST00000261654.5	+	8	1522	c.963C>A	c.(961-963)acC>acA	p.T321T	GPR133_ENST00000535015.1_Silent_p.T353T|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGAATCTCACCAAGGTAAGGC	0.483000													18	136					3.32936e-07	3.62856e-07	1	1	0
KCNAB2	8514	broad.mit.edu	37	1	6101896	6101896	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:6101896G>T	ENST00000164247.1	+	3	647	c.83G>T	c.(82-84)cGg>cTg	p.R28L	KCNAB2_ENST00000378097.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378111.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378087.3_Missense_Mutation_p.R28L|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000341524.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378092.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	28						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGTACTCGGTATGGGAGT	0.517000											OREG0013028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	106					4.3949e-29	5.44585e-29	1	1	0
PARD3B	117583	broad.mit.edu	37	2	205829956	205829956	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:205829956G>T	ENST00000406610.2	+	3	511	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	PARD3B_ENST00000462231.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000349953.3_Missense_Mutation_p.D102Y|PARD3B_ENST00000351153.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000358768.2_Missense_Mutation_p.D102Y	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	102					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGAGCCCAGATGCTTTTGA	0.478000													19	49					9.95505e-16	1.1896e-15	1	1	0
SETX	23064	broad.mit.edu	37	9	135210036	135210036	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:135210036A>T	ENST00000372169.2	-	7	979	c.797T>A	c.(796-798)tTt>tAt	p.F266Y	SETX_ENST00000393220.1_Missense_Mutation_p.F266Y|SETX_ENST00000224140.5_Missense_Mutation_p.F266Y			Q7Z333	SETX_HUMAN	senataxin	266					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CGATTGCATAAAATCATTTTG	0.363000													22	42					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59885956	59885956	+	Missense_Mutation	SNP	G	G	A	rs28997569	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59885956G>A	ENST00000259008.2	-	7	1057	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	BRIP1_ENST00000577598.1_Missense_Mutation_p.R264W	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	264	Helicase ATP-binding.		R -> W (rare polymorphism; dbSNP:rs28997569).		DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GCCGTCCTCCGGAGCTCTCTA	0.433000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					33	109					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121417	27121417	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:27121417T>C	ENST00000288699.6	+	2	208	c.50T>C	c.(49-51)gTg>gCg	p.V17A	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V17A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	17					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGCAAGGTGGTGAACGAT	0.567000													15	158					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172745210	172745210	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:172745210C>A	ENST00000265087.4	-	4	1858	c.549G>T	c.(547-549)gaG>gaT	p.E183D	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	183					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTTCACCTCCTCCCCACAGG	0.557000													23	4					5.45024e-15	6.4587e-15	1	1	0
ZNF480	147657	broad.mit.edu	37	19	52825659	52825659	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52825659C>A	ENST00000595962.1	+	5	1222	c.1156C>A	c.(1156-1158)Cta>Ata	p.L386I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.L309I|ZNF480_ENST00000334564.7_Missense_Mutation_p.L343I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AAATTCGCACCTAGCACAACA	0.358000													20	78					1.01871e-10	1.16834e-10	1	1	0
WBP11	51729	broad.mit.edu	37	12	14947541	14947541	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:14947541A>G	ENST00000261167.2	-	7	884	c.651T>C	c.(649-651)cgT>cgC	p.R217R	WBP11_ENST00000537574.1_Silent_p.R217R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	217	Interaction with PP1 (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AACCCACTTTACGGCCATACA	0.507000													60	245					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101215218	101215218	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:101215218C>T	ENST00000369162.2	-	9	1743	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	ASCC3_ENST00000522650.1_Missense_Mutation_p.G467R	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.G467*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCCAGCTGTCCGATCTAAAAA	0.348000													53	61					0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66613501	66613501	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66613501G>A	ENST00000309657.3	+	8	969	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	RCE1_ENST00000524506.1_Missense_Mutation_p.G288S|RCE1_ENST00000525356.1_Missense_Mutation_p.G186S	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	309					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CAAGCTCTACGGCAGCCTTCC	0.632000													31	96					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63491964	63491964	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:63491964C>T	ENST00000536984.2	+	6	1572	c.878C>T	c.(877-879)gCt>gTt	p.A293V	CDH7_ENST00000323011.3_Missense_Mutation_p.A293V|CDH7_ENST00000397968.2_Missense_Mutation_p.A293V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	293	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATATTGGAGCTAATGCTGAA	0.403000													34	87					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231476	2231476	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2231476G>A	ENST00000343516.6	-	18	1985	c.1893C>T	c.(1891-1893)atC>atT	p.I631I		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	631					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCGGCGACTCGATGGCCATCA	0.647000													14	20					0	0	1	0	0
TALDO1	6888	broad.mit.edu	37	11	763813	763813	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:763813G>A	ENST00000319006.3	+	6	857	c.704G>A	c.(703-705)gGc>gAc	p.G235D	TALDO1_ENST00000528097.1_Missense_Mutation_p.G235D			P37837	TALDO_HUMAN	transaldolase 1	235					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		ATTGTCATGGGCGCCTCCTTC	0.527000													7	381					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197533	71197533	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:71197533C>T	ENST00000554752.2	-	12	2878	c.2879G>A	c.(2878-2880)cGt>cAt	p.R960H	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R974H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R693H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R937H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R688H			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	960	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTCAGGGAGACGGGGGAATTC	0.552000													16	15					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25341481	25341481	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:25341481A>G	ENST00000255324.5	+	2	254	c.202A>G	c.(202-204)Aca>Gca	p.T68A	RNF17_ENST00000381921.1_Missense_Mutation_p.T68A|RNF17_ENST00000255325.5_Missense_Mutation_p.T68A|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	68					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAATGCACCACAATTATATG	0.303000													52	45					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4645271	4645271	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:4645271C>T	ENST00000261250.3	-	2	177	c.90G>A	c.(88-90)gtG>gtA	p.V30V	C12orf4_ENST00000545746.1_Silent_p.V30V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	30										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTTGAGTGGCACTCTCAGTT	0.378000													5	105					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39398083	39398083	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39398083C>A	ENST00000392079.3	+	5	755	c.657C>A	c.(655-657)gcC>gcA	p.A219A	NFKBIB_ENST00000572515.1_Silent_p.A251A|NFKBIB_ENST00000313582.5_Silent_p.A251A			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	251					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CAGTGGAGGCCCAGGCAGCCG	0.692000													54	75					6.20943e-19	7.49868e-19	1	1	0
HCN1	348980	broad.mit.edu	37	5	45303767	45303767	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:45303767C>A	ENST00000303230.4	-	6	1609	c.1552G>T	c.(1552-1554)Ggt>Tgt	p.G518C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	518						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G518S(1)|p.G518C(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCAGCAACACCGTGTTGAATG	0.388000													33	115					1.22384e-17	1.47481e-17	1	1	0
SORBS3	10174	broad.mit.edu	37	8	22432192	22432192	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:22432192G>T	ENST00000240123.7	+	21	2350	c.1967G>T	c.(1966-1968)aGg>aTg	p.R656M	SORBS3_ENST00000428103.1_Missense_Mutation_p.R314M	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	656	Binds to SOS.|SH3 3.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	p.R656M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GTCTCCCGGAGGACCCAGAAA	0.612000											OREG0018613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	180					2.02627e-32	2.52178e-32	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37524227	37524227	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:37524227A>T	ENST00000299824.1	+	4	530	c.341A>T	c.(340-342)gAg>gTg	p.E114V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114V|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	114					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GACAACTTTGAGGAAATTGTG	0.612000													24	30					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7623122	7623122	+	Missense_Mutation	SNP	C	C	T	rs145790522		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7623122C>T	ENST00000572933.1	+	2	1530	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	DNAH2_ENST00000082259.3_Missense_Mutation_p.R24W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R24W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R24W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	24	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGTCAGGGCGGGCCACTCG	0.627000													21	19					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144891171	144891171	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:144891171C>T	ENST00000356994.2	-	15	1729	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	SCRIB_ENST00000377533.3_Missense_Mutation_p.A494T|SCRIB_ENST00000320476.3_Missense_Mutation_p.A575T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	575	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGCAGTGCGTCCTCTGCG	0.652000													38	70					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40698035	40698035	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:40698035A>G	ENST00000249760.2	+	1	350	c.7A>G	c.(7-9)Act>Gct	p.T3A	IVD_ENST00000479013.2_Missense_Mutation_p.T6A|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.T6A	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	3					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		AGAGATGGCGACTGCGACTCG	0.672000													15	47					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948386	119948386	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:119948386C>A	ENST00000307142.4	+	3	1058	c.862C>A	c.(862-864)Ctc>Atc	p.L288I	SYNPO2_ENST00000429713.2_Missense_Mutation_p.L288I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.L288I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	288						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAAGTGATCCTCGACTGCTC	0.562000													13	23					7.03913e-09	7.86726e-09	1	1	0
NUFIP1	26747	broad.mit.edu	37	13	45563305	45563305	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:45563305C>T	ENST00000379161.4	-	1	313	c.267G>A	c.(265-267)gcG>gcA	p.A89A	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	89	Pro-rich.				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGGGGGGTTGCGCCCCGGGAA	0.642000													18	26					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47040353	47040353	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:47040353C>T	ENST00000450053.3	+	23	3547	c.3368C>T	c.(3367-3369)aCa>aTa	p.T1123I	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1123I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1123							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTGGCGGCCACAGGCGATGAC	0.657000											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789550	248789550	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:248789550C>T	ENST00000330803.2	-	1	941	c.880G>A	c.(880-882)Gtc>Atc	p.V294I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCCCTATGACGTCCTTGTTT	0.478000													73	100					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132437923	132437923	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:132437923G>A	ENST00000326682.8	-	3	661	c.585C>T	c.(583-585)agC>agT	p.S195S	NPHP3_ENST00000337331.5_Silent_p.S195S|NPHP3_ENST00000343113.4_Silent_p.S195S			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	195					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGAAGTTTGCTCTCCAACT	0.393000													29	89					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81208415	81208415	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:81208415G>T	ENST00000599697.1	-	16	2687	c.2688C>A	c.(2686-2688)ctC>ctA	p.L896L	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	896	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGCCAGCTGGAGGAGCTGCT	0.582000													18	58					1.2644e-06	1.37278e-06	1	1	0
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284000													4	168					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177113863	177113863	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:177113863G>T	ENST00000515234.1	-	3	1679	c.84C>A	c.(82-84)ccC>ccA	p.P28P	SPATA4_ENST00000280191.2_Silent_p.P201P			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	201					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TCAGCATGTTGGGATTGCTTA	0.383000													24	39					1.96895e-08	2.18772e-08	1	1	0
ZNF548	147694	broad.mit.edu	37	19	57910460	57910460	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57910460A>G	ENST00000366197.5	+	3	1055	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.M281V|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTACCGACTCATGAGACATAA	0.418000													38	45					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													4	28					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	117					0	0	1	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47611715	47611715	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:47611715C>T	ENST00000302514.3	-	2	1164	c.648G>A	c.(646-648)gcG>gcA	p.A216A		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	216	C1q 2.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGCCGGCCGCCGCGTCGAAGT	0.672000													24	17					0	0	1	0	0
DUSP18	150290	broad.mit.edu	37	22	31059498	31059498	+	Missense_Mutation	SNP	G	G	A	rs71788033		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:31059498G>A	ENST00000334679.3	-	2	998	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	DUSP18_ENST00000407308.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000403268.1_3'UTR	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	165						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CTGACCATGTGCACAGTGTTC	0.532000													14	62					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137323366	137323366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:137323366C>A	ENST00000367748.1	-	6	1244	c.658G>T	c.(658-660)Gga>Tga	p.G220*	IL20RA_ENST00000316649.5_Nonsense_Mutation_p.G331*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.G282*			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	331	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGCTTTTTCCCAGTAAACTC	0.433000													47	61					1.76056e-25	2.16275e-25	1	1	0
OTUD7A	161725	broad.mit.edu	37	15	31776656	31776656	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:31776656C>T	ENST00000382902.1	-	11	1735	c.1643G>A	c.(1642-1644)gGc>gAc	p.G548D	OTUD7A_ENST00000307050.4_Missense_Mutation_p.G541D			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	541						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCCCATCTTGCCGTGCACCAG	0.657000													12	51					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24836273	24836273	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24836273C>T	ENST00000413692.2	+	1	157	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F	NFATC4_ENST00000554591.1_Missense_Mutation_p.L5F|NFATC4_ENST00000440487.2_Intron	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	0					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GATAACCACCCTCCCATCTCT	0.572000													9	109					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396777	220396777	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:220396777C>A	ENST00000358078.4	+	3	1177	c.1163C>A	c.(1162-1164)cCg>cAg	p.P388Q	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.P388Q			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	388						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CAGGAGGAGCCGCCCTACATC	0.607000													4	168					0.00909568	0.0092416	1	1	0
USP13	8975	broad.mit.edu	37	3	179474843	179474843	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:179474843G>A	ENST00000263966.3	+	16	2396	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	USP13_ENST00000496897.1_Missense_Mutation_p.R577H|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	642					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTCCAGATCGCCTGATGAAC	0.368000													11	197					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000543	14000543	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:14000543C>T	ENST00000454313.1	-	6	1184	c.1126G>A	c.(1126-1128)Gct>Act	p.A376T	C19orf57_ENST00000346736.2_Missense_Mutation_p.A376T|C19orf57_ENST00000586783.1_Missense_Mutation_p.A376T|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	376					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCCATCAGCGGCCTTCCTC	0.667000													18	43					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247397	10247397	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:10247397C>A	ENST00000418404.3	-	15	1777	c.1614G>T	c.(1612-1614)gaG>gaT	p.E538D	MYH13_ENST00000252172.4_Missense_Mutation_p.E538D|MYH13_ENST00000570743.1_Missense_Mutation_p.E538D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	538	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATGCACTCCTCTTCCAGGA	0.473000													36	116					2.87052e-16	3.44462e-16	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101586254	101586254	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:101586254C>T	ENST00000284395.5	+	22	3423	c.3023C>T	c.(3022-3024)gCc>gTc	p.A1008V	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1011V			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1011					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCCCACAGCCAACACCATT	0.552000													7	94					0	0	1	0	0
TP53INP2	58476	broad.mit.edu	37	20	33298028	33298028	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:33298028C>A	ENST00000374810.3	+	5	969	c.580C>A	c.(580-582)Cga>Aga	p.R194R	TP53INP2_ENST00000374809.2_Silent_p.R194R|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	194						nucleus				endometrium(1)|urinary_tract(1)	2						GCGGCAGAACCGAGCCCGCGA	0.731000													3	22					0.00909568	0.0092416	1	1	0
TBX4	9496	broad.mit.edu	37	17	59534957	59534957	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59534957G>T	ENST00000393853.4	+	3	409	c.246G>T	c.(244-246)gaG>gaT	p.E82D	TBX4_ENST00000240335.1_Missense_Mutation_p.E82D			P57082	TBX4_HUMAN	T-box 4	82					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGTTCCACGAGGCGGGCACCG	0.607000													9	80					9.70103e-10	1.09714e-09	1	1	0
ODC1	4953	broad.mit.edu	37	2	10580932	10580932	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:10580932C>T	ENST00000234111.4	-	12	1814	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	ODC1_ENST00000405333.1_Missense_Mutation_p.S435N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	435					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AGGCAGGGTGCTGGCATCCTG	0.512000													17	103					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130437346	130437346	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:130437346G>A	ENST00000356763.3	-	8	2571	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	672					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCACCATAACGTATCCATAAA	0.383000													21	70					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140057651	140057651	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:140057651G>A	ENST00000371561.3	+	16	3299	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A	GRIN1_ENST00000371560.3_Silent_p.A755A|GRIN1_ENST00000371553.3_Silent_p.A755A|GRIN1_ENST00000371559.4_Silent_p.A734A|GRIN1_ENST00000371546.4_Silent_p.A755A|GRIN1_ENST00000371550.4_Silent_p.A734A|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.A734A|GRIN1_ENST00000371555.4_Silent_p.A755A|GRIN1_ENST00000315048.3_Silent_p.A734A	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	734					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGGACTCGGCGGTGCTGGAGT	0.667000													7	26					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153903541	153903541	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:153903541C>A	ENST00000361217.4	-	25	4415		c.e25-1		DENND4B_ENST00000474386.1_Splice_Site	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B											NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGATGGGGCCTGGGGGAGCC	0.567000													4	24					0.00909568	0.0092416	1	1	0
ATL2	64225	broad.mit.edu	37	2	38537548	38537548	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:38537548C>T	ENST00000378954.4	-	8	847	c.846G>A	c.(844-846)aaG>aaA	p.K282K	ATL2_ENST00000452935.2_Silent_p.K264K|ATL2_ENST00000419554.2_Silent_p.K282K|ATL2_ENST00000402054.1_Silent_p.K111K|ATL2_ENST00000539122.1_Silent_p.K111K|ATL2_ENST00000406122.1_Silent_p.K111K|ATL2_ENST00000332337.4_Silent_p.K264K|ATL2_ENST00000546051.1_Silent_p.K111K	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	282					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TGTGTATGTGCTTCCTTACAT	0.368000													13	64					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16024504	16024504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:16024504G>A	ENST00000268712.3	-	16	1971	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R572*|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R463*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	572					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGTCTTTCGCCCCCGGGGT	0.542000													38	156					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170065	118170065	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:118170065C>T	ENST00000427715.2	+	7	841	c.407C>T	c.(406-408)gCa>gTa	p.A136V	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185V	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCAGCTGCGCAGTGGCGGCC	0.527000													9	171					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33954220	33954220	+	Silent	SNP	C	C	T	rs146912787	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:33954220C>T	ENST00000361328.3	+	3	726	c.573C>T	c.(571-573)gcC>gcT	p.A191A	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Silent_p.A191A	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	191					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACCTAAATGCCGAGGTGGCAC	0.557000													10	31					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508423	123508423	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:123508423C>T	ENST00000223026.4	+	3	734	c.96C>T	c.(94-96)atC>atT	p.I32I	HYAL4_ENST00000476325.1_Silent_p.I32I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	32					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAAAGTCTATCTCTTGTCTAA	0.328000													37	83					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108566103	108566103	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:108566103A>G	ENST00000265174.4	-	10	1633	c.1361T>C	c.(1360-1362)cTg>cCg	p.L454P		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	454					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAGCCACCCAGAGGGTGGAG	0.547000													6	49					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52940182	52940182	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52940182G>A	ENST00000394752.3	-	20	2789	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	803	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGAACCGCACAACGTCT	0.418000													4	77					0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950170	55950170	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:55950170G>A	ENST00000577830.1	-	5	1051	c.638C>T	c.(637-639)cCt>cTt	p.P213L	CUEDC1_ENST00000577840.1_Missense_Mutation_p.P76L|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P213L|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P213L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	213										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AGCCATGGCAGGTGGACATCC	0.607000													26	81					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876380	35876380	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:35876380G>T	ENST00000303115.3	+	8	1301	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	391					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTAGACTGCAGGGAGAGTGGC	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						7	74					8.12818e-05	8.65993e-05	1	1	0
SHH	6469	broad.mit.edu	37	7	155595700	155595700	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:155595700G>A	ENST00000297261.2	-	3	1433	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	428					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCGCGGTGGCCCCCGCACC	0.736000													7	15					0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58388752	58388752	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:58388752T>C	ENST00000402135.3	-	12	976	c.940A>G	c.(940-942)Att>Gtt	p.I314V	FANCL_ENST00000233741.4_Missense_Mutation_p.I309V|FANCL_ENST00000403295.3_Missense_Mutation_p.I281V|FANCL_ENST00000403676.1_Missense_Mutation_p.I192V	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	309					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GCATAACAAATTCCACAATCC	0.338000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				30	54					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23647099	23647099	+	Silent	SNP	G	G	A	rs45487491		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:23647099G>A	ENST00000261584.4	-	4	920	c.768C>T	c.(766-768)agC>agT	p.S256S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	256	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GACTACTACCGCTATCTGATA	0.418000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					56	228					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4802766	4802766	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:4802766G>A	ENST00000293780.4	-	9	1039	c.1029C>T	c.(1027-1029)cgC>cgT	p.R343R	C17orf107_ENST00000521575.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	343					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						CGCTTACGTGGCGCAGCCGCG	0.677000													6	4					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91686146	91686146	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:91686146G>A	ENST00000375835.4	-	5	1057	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	251	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GAGATGGACCGCATGTGGTGA	0.507000													29	8					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477356	6477356	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:6477356G>A	ENST00000525074.1	-	7	1873	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	TRIM3_ENST00000345851.3_Silent_p.S493S|TRIM3_ENST00000537602.1_Silent_p.S415S|TRIM3_ENST00000359518.3_Silent_p.S493S|TRIM3_ENST00000536344.1_Silent_p.S374S|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	493					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGCTGCGGACACACCTT	0.493000													16	75					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922967	48922967	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:48922967G>A	ENST00000263269.3	+	9	2075	c.1987G>A	c.(1987-1989)Gcc>Acc	p.A663T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	663						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCTGGTGTGGGCCTTCTTCGC	0.587000													42	149					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10789317	10789317	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10789317C>T	ENST00000449870.1	+	6	905	c.588C>T	c.(586-588)gaC>gaT	p.D196D	ILF3_ENST00000588657.1_Silent_p.D196D|ILF3_ENST00000589998.1_Silent_p.D196D|ILF3_ENST00000407004.3_Silent_p.D196D|ILF3_ENST00000318511.3_Silent_p.D196D|ILF3_ENST00000250241.8_Silent_p.D196D|ILF3_ENST00000590261.1_Silent_p.D196D|ILF3_ENST00000420083.1_Silent_p.D196D|ILF3_ENST00000592763.1_Silent_p.D196D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	196	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACCCCCCGGACGTTCTGGACA	0.498000													29	73					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86210351	86210351	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:86210351T>C	ENST00000370571.2	-	57	5036	c.4670A>G	c.(4669-4671)gAt>gGt	p.D1557G	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1557	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAACTTACCATCTGATACTTT	0.358000													11	134					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78204128	78204128	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:78204128C>T	ENST00000281038.5	-	7	1178	c.803G>A	c.(802-804)aGc>aAc	p.S268N	NARS2_ENST00000528850.1_Missense_Mutation_p.S41N	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	268					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	ATCTTGAAGGCTGTCAACAAA	0.393000													20	72					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43006186	43006186	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:43006186C>T	ENST00000535468.1	-	25	4930	c.4844G>A	c.(4843-4845)aGc>aAc	p.S1615N	CUL7_ENST00000265348.3_Missense_Mutation_p.S1531N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1531					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGTTCCTTGCTGCCATCTCG	0.582000													8	118					0	0	1	0	0
LIMD2	80774	broad.mit.edu	37	17	61775953	61775953	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:61775953A>G	ENST00000259006.3	-	5	501	c.343T>C	c.(343-345)Tgg>Cgg	p.W115R	LIMD2_ENST00000578061.1_Missense_Mutation_p.W115R|LIMD2_ENST00000578402.1_Missense_Mutation_p.W115R|LIMD2_ENST00000583211.1_Missense_Mutation_p.W66R|LIMD2_ENST00000578993.1_Missense_Mutation_p.W75R|LIMD2_ENST00000582055.1_Missense_Mutation_p.W66R	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	115							zinc ion binding			kidney(1)|lung(2)	3						TTGTGGGCCCAGAGCTCCTTG	0.632000													4	58					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8398062	8398062	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:8398062C>T	ENST00000330915.3	-	7	1837	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H	KANK3_ENST00000593649.1_Missense_Mutation_p.R591H	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	591										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGCCTGAGAGCGCCGCTGGCT	0.687000													25	27					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263361	122263361	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:122263361G>C	ENST00000398250.1	+	2	440	c.88G>C	c.(88-90)Gtc>Ctc	p.V30L	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.V20L	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	30					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTTCCAGAGAGTCATCCAGCC	0.423000													55	11					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145060033	145060033	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:145060033G>A	ENST00000313028.7	-	3	386	c.292C>T	c.(292-294)Cct>Tct	p.P98S	PARP10_ENST00000524918.1_Missense_Mutation_p.P98S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P110S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	98						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGTGCCAGGGGGCAGTCCT	0.697000													14	44					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122842976	122842976	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:122842976C>T	ENST00000316218.7	+	9	768	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	225	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.R225C(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GTACAGCGTGCGCGGCTTCCC	0.537000													24	54					0	0	1	0	0
UBOX5	22888	broad.mit.edu	37	20	3090766	3090766	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3090766G>A	ENST00000217173.2	-	5	2083	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	UBOX5_ENST00000348031.2_Missense_Mutation_p.R484W|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	538						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AAGTGGACCCGCAGCACGTCT	0.662000													7	136					0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67241982	67241982	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:67241982G>A	ENST00000282670.2	+	4	360	c.232G>A	c.(232-234)Gtg>Atg	p.V78M		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	78										large_intestine(2)|lung(10)|skin(1)	13						ACATTTTCCTGTGGTCACCGT	0.358000													22	74					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498429	106498429	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:106498429C>T	ENST00000233154.4	+	4	1314	c.872C>T	c.(871-873)aCg>aTg	p.T291M	NCK2_ENST00000393349.2_Missense_Mutation_p.T291M|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	291	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGGAACGTGACGCGGCACCAG	0.692000													13	43					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160260441	160260441	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:160260441G>A	ENST00000241704.7	-	32	3685	c.3456C>T	c.(3454-3456)ccC>ccT	p.P1152P	COPA_ENST00000368069.3_Silent_p.P1161P	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1152					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCATCTGTGGGATTCTTCT	0.488000													38	218					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21833045	21833045	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:21833045T>C	ENST00000216297.2	-	10	1512	c.1174A>G	c.(1174-1176)Aaa>Gaa	p.K392E		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	392					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTGGCTTTTTCCCCTCCTTG	0.428000													16	55					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122854027	122854027	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:122854027C>T	ENST00000264811.5	-	1	585	c.167G>A	c.(166-168)cGc>cAc	p.R56H	TRPC3_ENST00000379645.3_Missense_Mutation_p.R129H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R56H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	44					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGCATCTTGCGCACCACTGG	0.647000													36	20					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174713	112174713	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:112174713C>T	ENST00000457016.1	+	16	3802	c.3422C>T	c.(3421-3423)aCc>aTc	p.T1141I	APC_ENST00000508376.2_Missense_Mutation_p.T1141I|APC_ENST00000257430.4_Missense_Mutation_p.T1141I|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1141	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATAAGCCTACCAATTATAGT	0.343000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	48					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177713372	177713372	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:177713372A>G	ENST00000280193.2	-	1	509	c.94T>C	c.(94-96)Ttc>Ctc	p.F32L		NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	32					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CCGGACTCGAAggcggcggcg	0.687000													16	11					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71723995	71723995	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:71723995C>A	ENST00000393695.3	-	15	4885	c.4554G>T	c.(4552-4554)aaG>aaT	p.K1518N	NUMA1_ENST00000358965.6_Missense_Mutation_p.K1518N|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1518					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCTCCAGGACCTTGACCTTGG	0.592000			T	RARA	APL								20	51					1.56452e-12	1.81996e-12	1	1	0
CSTB	1476	broad.mit.edu	37	21	45194587	45194587	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:45194587G>T	ENST00000291568.5	-	2	295	c.120C>A	c.(118-120)gcC>gcA	p.A40A		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	40						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TGAATGACACGGCCTTAAACA	0.527000													20	73					1.28384e-07	1.40729e-07	1	1	0
PNPLA6	10908	broad.mit.edu	37	19	7605872	7605872	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:7605872C>A	ENST00000221249.6	+	10	1173	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	PNPLA6_ENST00000600737.1_Missense_Mutation_p.L287M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L248M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L248M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.L296M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	287					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGCTGCGCCTGCCGGTGGA	0.692000													4	21					0.00909568	0.0092416	1	1	0
LRRC73	221424	broad.mit.edu	37	6	43476148	43476148	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:43476148C>T	ENST00000372441.1	-	3	1344	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	148																	TCAGCGTTAGCTCCTTCAAGC	0.602000													19	47					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129958	35129958	+	RNA	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:35129958T>C	ENST00000436258.1	-	0	3411																											ACCATGCCTCTTCTAAAACAT	0.348000													193	131					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25671280	25671280	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:25671280G>T	ENST00000382051.3	+	7	697	c.647G>T	c.(646-648)gGa>gTa	p.G216V	SLC34A2_ENST00000503434.1_Missense_Mutation_p.G215V|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G215V	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	216					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTTTTGCAGGAGCCACTGTC	0.537000			T	ROS1	NSCLC								60	23					4.88506e-25	5.98813e-25	1	1	0
PSME2	5721	broad.mit.edu	37	14	24614653	24614653	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24614653C>G	ENST00000216802.5	-	4	805	c.166G>C	c.(166-168)Gac>Cac	p.D56H	PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.D45H	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		GAAGTCAAGTCAGCCACATTG	0.577000													17	77					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29821459	29821459	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:29821459A>G	ENST00000563402.1	+	3	441	c.310A>G	c.(310-312)Agc>Ggc	p.S104G	MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000566906.2_Missense_Mutation_p.S102G|MAZ_ENST00000562337.1_Silent_p.A142A|MAZ_ENST00000322945.6_Silent_p.A447A|MAZ_ENST00000545521.1_Silent_p.A424A|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000568544.1_Silent_p.A48A			P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	104	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						cagcagcggcagcagtagcag	0.667000													5	32					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62209646	62209646	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:62209646T>C	ENST00000261517.5	-	60	8022	c.7949A>G	c.(7948-7950)tAc>tGc	p.Y2650C	VPS13C_ENST00000395898.3_Missense_Mutation_p.Y2607C|VPS13C_ENST00000249837.3_Missense_Mutation_p.Y2607C|VPS13C_ENST00000395896.4_Missense_Mutation_p.Y2650C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2650					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTACATATGTAGCTCAATTC	0.418000													18	61					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787199	73787199	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:73787199A>G	ENST00000342056.2	+	4	1169	c.771A>G	c.(769-771)tcA>tcG	p.S257S	KCNQ5_ENST00000355194.4_Silent_p.S257S|KCNQ5_ENST00000355635.3_Silent_p.S257S|KCNQ5_ENST00000414165.2_Silent_p.S257S|KCNQ5_ENST00000370392.1_Silent_p.S257S|KCNQ5_ENST00000403813.2_Silent_p.S257S|KCNQ5_ENST00000402622.2_Silent_p.S257S|KCNQ5_ENST00000370398.1_Silent_p.S257S	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	257					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TACTGGGTTCAGTGGTTTATG	0.418000													36	38					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6475575	6475575	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6475575C>T	ENST00000381480.2	-	13	959	c.847G>A	c.(847-849)Gag>Aag	p.E283K	DENND1C_ENST00000543576.1_Missense_Mutation_p.E239K	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	283	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACGACGTCCTCCAGGGCTTTT	0.627000													20	112					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237659941	237659941	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:237659941G>A	ENST00000366574.2	+	20	2409	c.2092G>A	c.(2092-2094)Gct>Act	p.A698T	RYR2_ENST00000360064.6_Missense_Mutation_p.A696T|RYR2_ENST00000542537.1_Missense_Mutation_p.A682T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	698	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGGGCTGGGCTTCCACTGA	0.502000													20	83					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160149596	160149596	+	Missense_Mutation	SNP	G	G	A	rs11548868		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:160149596G>A	ENST00000357388.3	+	21	3731	c.3280G>A	c.(3280-3282)Gca>Aca	p.A1094T	SMC4_ENST00000344722.5_Missense_Mutation_p.A1094T|SMC4_ENST00000469762.1_Missense_Mutation_p.A1069T|SMC4_ENST00000462787.1_Missense_Mutation_p.A1036T|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.A1036T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1094					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGGTGCCATCGCAGAGTATAA	0.358000													36	24					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17610538	17610538	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:17610538G>A	ENST00000377813.1	-	9	2982	c.2679C>T	c.(2677-2679)caC>caT	p.H893H	RRBP1_ENST00000455029.2_Silent_p.H234H|RRBP1_ENST00000377807.2_Silent_p.H460H|RRBP1_ENST00000360807.4_Silent_p.H460H|RRBP1_ENST00000246043.4_Silent_p.H893H			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	893					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGCTCTGCGTGTGGCACAGCT	0.711000													7	49					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174959	6174959	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:6174959A>G	ENST00000264870.3	-	12	1866	c.1601T>C	c.(1600-1602)tTc>tCc	p.F534S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	534					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGAGAGCTTGAAGTCTTTTCC	0.493000													39	67					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994806	108994806	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:108994806G>A	ENST00000272452.2	+	1	339	c.13G>A	c.(13-15)Gac>Aac	p.D5N	SULT1C4_ENST00000409309.3_Missense_Mutation_p.D5N	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	5			D -> E (in dbSNP:rs1402467).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGCCTTACACGACATGGAGGA	0.443000													103	117					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7755268	7755268	+	Splice_Site	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7755268G>T	ENST00000254846.5	+	18	4554		c.e18-1		KDM6B_ENST00000448097.2_Splice_Site	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B						inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GACCCCTGCAGGCCACCAGGA	0.632000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34					0.00829132	0.00853078	1	1	0
OLFM1	10439	broad.mit.edu	37	9	138011607	138011607	+	Silent	SNP	C	C	T	rs138868145	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:138011607C>T	ENST00000252854.4	+	6	1174	c.987C>T	c.(985-987)taC>taT	p.Y329Y	OLFM1_ENST00000371793.3_Silent_p.Y347Y|OLFM1_ENST00000371796.3_Silent_p.Y320Y	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	347	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGTACCACTACGCCTGGGGTG	0.572000													34	6					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994623	994623	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:994623C>A	ENST00000537687.1	+	19	6076	c.5433C>A	c.(5431-5433)tcC>tcA	p.S1811S	WNK1_ENST00000315939.6_Silent_p.S1551S|WNK1_ENST00000340908.4_Silent_p.S1144S|WNK1_ENST00000530271.2_Silent_p.S2049S|WNK1_ENST00000535572.1_Silent_p.S1304S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1551					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCCTCTTCCTCTCCTGGAG	0.478000													118	372					8.58103e-55	1.07973e-54	1	1	0
TRUB2	26995	broad.mit.edu	37	9	131076091	131076091	+	Silent	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:131076091G>T	ENST00000372890.4	-	5	789	c.456C>A	c.(454-456)acC>acA	p.T152T	TRUB2_ENST00000546104.1_Silent_p.T96T|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	152					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TCTCACCATAGGTTGTCTTCT	0.587000													35	63					1.06647e-15	1.26908e-15	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175052	57175052	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57175052T>C	ENST00000537055.2	-	2	1746	c.1515A>G	c.(1513-1515)ccA>ccG	p.P505P		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCGTGGGAGCTGGGCAAAGGC	0.622000													22	178					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57866668	57866668	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:57866668G>A	ENST00000443917.2	+	3	529	c.190G>A	c.(190-192)Gca>Aca	p.A64T	ZNF304_ENST00000282286.5_Intron|ZNF304_ENST00000598744.1_Intron|ZNF304_ENST00000391705.3_Intron			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATGCAGTTGCGCAGTTGGAGG	0.532000													17	32					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35154314	35154314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:35154314C>T	ENST00000373913.3	+	12	3136	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	DLGAP4_ENST00000340491.4_Nonsense_Mutation_p.Q350*|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.Q889*|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000373907.2_Nonsense_Mutation_p.Q889*|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.Q886*			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	889					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGACCTGCTACAGCTGTCCAT	0.602000													30	113					0	0	1	0	0
CDKL3	51265	broad.mit.edu	37	5	133702117	133702117	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:133702117T>C	ENST00000521118.1	-	2	212	c.98A>G	c.(97-99)aAg>aGg	p.K33R	CDKL3_ENST00000523054.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.K33R|CDKL3_ENST00000265334.4_Missense_Mutation_p.K33R|CDKL3_ENST00000435211.1_Missense_Mutation_p.K33R|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000536186.1_Intron			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	33	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAAATATCTTAATGGCCAC	0.358000													19	5					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2260807	2260807	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2260807G>A	ENST00000328540.3	-	1	1144	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	BRICD5_ENST00000566018.1_Missense_Mutation_p.R10C|BRICD5_ENST00000562360.1_Missense_Mutation_p.R10C	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		GGTTTGGGGCGCTCAGCACAG	0.652000													16	57					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8930527	8930527	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:8930527G>T	ENST00000234590.4	-	4	343	c.224C>A	c.(223-225)cCt>cAt	p.P75H		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	75					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AACCAGGGCAGGCGCAATAGT	0.468000													6	57					1	1	1	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213414146	213414146	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:213414146C>A	ENST00000366960.3	+	11	1477	c.1327C>A	c.(1327-1329)Ctg>Atg	p.L443M	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L146M|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L231M|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L431M	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	443	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAAAGTTCACCTGCAGCAGCC	0.423000													4	159					0.00909568	0.0092416	1	1	0
TNPO2	30000	broad.mit.edu	37	19	12830100	12830100	+	Silent	SNP	G	G	A	rs138981862	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:12830100G>A	ENST00000425528.1	-	4	507	c.150C>T	c.(148-150)ttC>ttT	p.F50F	TNPO2_ENST00000588216.1_Silent_p.F50F|TNPO2_ENST00000441499.1_Silent_p.F50F|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Silent_p.F50F|TNPO2_ENST00000592287.1_Silent_p.F50F|TNPO2_ENST00000450764.2_Silent_p.F50F			O14787	TNPO2_HUMAN	transportin 2	50	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTCAGGACGAAAATCAGGT	0.552000													15	37					0	0	1	0	0
ZFP69B	65243	broad.mit.edu	37	1	40922708	40922708	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:40922708T>C	ENST00000411995.2	+	4	680	c.305T>C	c.(304-306)gTg>gCg	p.V102A	ZFP69B_ENST00000361584.3_5'UTR|ZFP69B_ENST00000484445.1_Silent_p.G73G	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		TACCGGGAGGTGATGCTGGAG	0.488000													14	37					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36722689	36722689	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:36722689C>T	ENST00000216181.5	-	5	766	c.536G>A	c.(535-537)gGc>gAc	p.G179D	MYH9_ENST00000401701.1_Missense_Mutation_p.G179D	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	179	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCGTCTTGCCAGCTCCAGA	0.582000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				27	57					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67161083	67161083	+	Splice_Site	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67161083T>C	ENST00000307980.2	+	4	442		c.e4+2			NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)						DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCAAGTTCGGTGAGTGGGCAG	0.637000								Other conserved DNA damage response genes					36	19					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7578370C>T	ENST00000420246.2	-	5	692		c.e5+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCTGCTCACCATCGCTATC	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			44	52					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105459342	105459342	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:105459342C>T	ENST00000264122.4	-	7	1300	c.979G>A	c.(979-981)Gga>Aga	p.G327R	CBLB_ENST00000403724.1_Missense_Mutation_p.G327R|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.G349R|CBLB_ENST00000405772.1_Missense_Mutation_p.G327R	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	327	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACTTACAATCCTTCCCTGCTG	0.418000			Mis S		AML								43	88					0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	435						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617000													57	77					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177226343	177226343	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:177226343G>T	ENST00000361539.4	+	4	804	c.492G>T	c.(490-492)aaG>aaT	p.K164N	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		164						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTGTGGACAAGCAGAAACTGG	0.517000													11	46					0.000978159	0.00102491	1	1	0
SUZ12	23512	broad.mit.edu	37	17	30320994	30320994	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:30320994A>T	ENST00000322652.5	+	12	1633	c.1404A>T	c.(1402-1404)aaA>aaT	p.K468N	SUZ12_ENST00000580398.1_Missense_Mutation_p.K445N	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	468					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AGCATCTTAAACTCTGCCATA	0.348000			T	JAZF1	endometrial stromal tumours								29	152					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170865	90170865	+	Missense_Mutation	SNP	G	G	A	rs142993117		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:90170865G>A	ENST00000333209.3	-	2	915	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	133										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGCAGGTGTGCTGATTGGCG	0.557000													58	58					0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65650554	65650554	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:65650554C>A	ENST00000528419.1	+	8	764	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	CTSW_ENST00000307886.3_Missense_Mutation_p.L254M			P56202	CATW_HUMAN	cathepsin W	254					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		TGCGCAGTACCTGGCCACTTA	0.592000													33	141					3.76114e-14	4.42944e-14	1	1	0
DCLRE1A	9937	broad.mit.edu	37	10	115609585	115609585	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:115609585T>C	ENST00000361384.2	-	2	2196	c.1279A>G	c.(1279-1281)Aaa>Gaa	p.K427E	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K427E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	427	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGTTTTGCTTTAGTTGCCTGA	0.408000								Other identified genes with known or suspected DNA repair function					21	29					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26457731	26457731	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:26457731G>T	ENST00000265944.5	+	28	3368	c.3202G>T	c.(3202-3204)Gca>Tca	p.A1068S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1068	IQ 1.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGTGTCAGAGCATTCTTGTG	0.338000													33	118					4.3181e-19	5.22573e-19	1	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17139068	17139068	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:17139068T>C	ENST00000265970.7	-	18	3185	c.3186A>G	c.(3184-3186)aaA>aaG	p.K1062K	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.K682K	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1062					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CCTGCCTTACTTTTTCTGCTA	0.393000													53	167					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112940	234112940	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:234112940G>A	ENST00000359570.5	+	28	3108	c.3108G>A	c.(3106-3108)ccG>ccA	p.1036_1036insP	INPP5D_ENST00000455936.2_Missense_Mutation_p.800_800insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.800_800insP			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGAACCCCCGCCCTGCCCGG	0.657000													36	53					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138607	55138607	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:55138607T>C	ENST00000257290.5	+	9	1615	c.1284T>C	c.(1282-1284)acT>acC	p.T428T	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	428	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGGCTCAACTGGGGGACAGA	0.473000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	56					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648832	41648832	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:41648832T>C	ENST00000313860.7	+	12	1641	c.1587T>C	c.(1585-1587)acT>acC	p.T529T	LIMCH1_ENST00000513024.1_Silent_p.T358T|LIMCH1_ENST00000381753.4_Silent_p.T363T|LIMCH1_ENST00000509277.1_Silent_p.T363T|LIMCH1_ENST00000512946.1_Silent_p.T529T|LIMCH1_ENST00000512820.1_Silent_p.T517T|LIMCH1_ENST00000508501.1_Silent_p.T529T|LIMCH1_ENST00000503057.1_Silent_p.T914T|LIMCH1_ENST00000396595.3_Silent_p.T375T|LIMCH1_ENST00000511496.1_Silent_p.T370T|LIMCH1_ENST00000514096.1_Silent_p.T370T|LIMCH1_ENST00000512632.1_Silent_p.T529T	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	529					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAACTGTCACTCCCAAAGCAG	0.488000													47	68					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42778764	42778764	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:42778764C>A	ENST00000432191.2	+	5	441	c.369C>A	c.(367-369)tcC>tcA	p.S123S	PPHLN1_ENST00000552761.1_Silent_p.S130S|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000358314.7_Silent_p.S178S|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Silent_p.S185S|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000549190.1_Silent_p.S196S|PPHLN1_ENST00000337898.6_Silent_p.S123S|PPHLN1_ENST00000395568.2_Silent_p.S178S	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	178					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CTGGTGCCTCCTACAAACGGC	0.498000													9	84					0.000673444	0.00070693	1	1	0
USP24	23358	broad.mit.edu	37	1	55612663	55612663	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:55612663C>T	ENST00000294383.6	-	19	2188	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	USP24_ENST00000407756.1_Missense_Mutation_p.R570H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	730					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTCCTTGGCACGATTCCAGCC	0.383000													6	38					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346491	89346491	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:89346491C>T	ENST00000301030.4	-	9	6919	c.6459G>A	c.(6457-6459)gcG>gcA	p.A2153A	ANKRD11_ENST00000378330.2_Silent_p.A2153A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2153	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCACGGGTTCCGCTTCACCAT	0.647000													17	21					0	0	1	0	0
HIST1H4A	8359	broad.mit.edu	37	6	26022048	26022048	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:26022048T>C	ENST00000359907.3	+	1	142	c.142T>C	c.(142-144)Tct>Cct	p.S48P		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|skin(1)	2						GAAGCGGATCTCTGGTCTGAT	0.622000													36	83					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46739344	46739344	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:46739344G>A	ENST00000371975.4	+	14	2209	c.1535G>A	c.(1534-1536)aGc>aAc	p.S512N	RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.S512N	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	512	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CGAAGCCGTAGCAGTGACAAA	0.547000								Direct reversal of damage;Homologous recombination					7	16					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080755	178080755	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:178080755G>A	ENST00000411529.2	+	4	377	c.326G>A	c.(325-327)gGt>gAt	p.G109D	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G131D|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G131D	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	131	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTTTTGTTGGTGGTATTAAA	0.323000													9	45					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74842873	74842873	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:74842873C>T	ENST00000358399.3	+	9	930	c.837C>T	c.(835-837)caC>caT	p.H279H	GDA_ENST00000238018.4_Silent_p.H279H|GDA_ENST00000545168.1_Silent_p.H205H|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Silent_p.H218H|GDA_ENST00000376986.1_Silent_p.H201H	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	279					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGATGGCACACGGCTGCTACC	0.458000													13	21					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746686	95746686	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:95746686C>A	ENST00000311106.3	-	8	1124	c.887G>T	c.(886-888)aGa>aTa	p.R296I	PCSK1_ENST00000508626.1_Missense_Mutation_p.R249I|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	296	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCCCCTGTCTCCCCTAAAG	0.468000													38	55					1.06647e-15	1.26908e-15	1	1	0
TELO2	9894	broad.mit.edu	37	16	1559928	1559928	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:1559928G>A	ENST00000262319.6	+	21	2784	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	835						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCCCACCCGCGTCTCCCTAGT	0.662000													5	4					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18254702	18254702	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:18254702G>T	ENST00000262811.5	+	21	2382	c.2382G>T	c.(2380-2382)gaG>gaT	p.E794D		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	794							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTCATCAGAGGATGAGGGGG	0.632000													7	32					2.7689e-08	3.07057e-08	1	1	0
NOS1AP	9722	broad.mit.edu	37	1	162124229	162124229	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:162124229G>A	ENST00000361897.5	+	2	542	c.140G>A	c.(139-141)aGc>aAc	p.S47N	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S47N	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	47	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGCCCAACAGCAGGGTGGAG	0.592000													24	25					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555660	182555660	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:182555660C>T	ENST00000367559.3	-	2	535	c.282G>A	c.(280-282)acG>acA	p.T94T	RNASEL_ENST00000539397.1_Silent_p.T94T|RNASEL_ENST00000444138.1_Silent_p.T94T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	94					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGATAAAAGGCGTGGCCCCAT	0.493000													27	31					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123908452	123908452	+	Missense_Mutation	SNP	A	A	G	rs143318973		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:123908452A>G	ENST00000373855.1	+	23	3637	c.3377A>G	c.(3376-3378)cAg>cGg	p.Q1126R	CNTRL_ENST00000373847.1_Missense_Mutation_p.Q574R|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q1126R|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q574R			Q7Z7A1	CNTRL_HUMAN	centriolin	1126					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTTTCTTATCAGAATGATTAC	0.368000													15	38					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805817	19805817	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:19805817G>A	ENST00000311322.8	+	2	685	c.215G>A	c.(214-216)aGc>aAc	p.S72N	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	72					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TTCAATCACAGCAGCAAAACC	0.532000													4	90					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132337599	132337599	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:132337599C>A	ENST00000264990.6	-	11	2264	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.E431D|ACAD11_ENST00000481970.2_Missense_Mutation_p.E431D	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TCCAGAGACCCTCGACTTTGG	0.423000													16	39					1.5739e-10	1.79784e-10	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30091887	30091887	+	RNA	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:30091887G>A	ENST00000567636.1	+	0	262					NR_003558.1																						GACCAAGCCCGAAAGGAAGCC	0.413000													8	94					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48746868	48746868	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:48746868C>T	ENST00000314191.2	-	60	8094	c.8038G>A	c.(8038-8040)Gcc>Acc	p.A2680T	PRKDC_ENST00000338368.3_Missense_Mutation_p.A2680T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2681	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCTTGTGGGCAAACAGCAAG	0.542000								Non-homologous end-joining					69	266					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354500	120354500	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:120354500G>A	ENST00000239032.2	-	2	395	c.257C>T	c.(256-258)gCg>gTg	p.A86V	PRLHR_ENST00000369169.1_Missense_Mutation_p.A86V	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	86					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCGCACCCGCGCGATCACCAG	0.662000													32	41					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130040050	130040050	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:130040050C>A	ENST00000223208.4	-	10	1073	c.803G>T	c.(802-804)gGt>gTt	p.G268V	CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	268					G2/M transition of mitotic cell cycle	centrosome|cytosol											TGGCAGGGAACCAGTAATCAG	0.512000													13	53					1.5842e-08	1.76366e-08	1	1	0
ATL1	51062	broad.mit.edu	37	14	51081185	51081185	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:51081185G>A	ENST00000441560.2	+	9	1299	c.818G>A	c.(817-819)gGc>gAc	p.G273D	ATL1_ENST00000354525.4_Missense_Mutation_p.G273D|ATL1_ENST00000358385.6_Missense_Mutation_p.G273D|ATL1_ENST00000357032.3_Missense_Mutation_p.G273D	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	273					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCTCATCCTGGCTTAAAAGTA	0.378000													4	71					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83941859	83941859	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:83941859T>C	ENST00000262430.4	+	3	789	c.770T>C	c.(769-771)cTg>cCg	p.L257P	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	257					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CACGTGGCACTGACTGGTGAC	0.532000													18	74					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447555	28447555	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:28447555C>A	ENST00000261609.7	-	46	7526	c.7418G>T	c.(7417-7419)aGg>aTg	p.R2473M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2473					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCGATGTTCCTTCTGGAAAA	0.572000													11	12					6.40141e-05	6.84579e-05	1	1	0
THBS2	7058	broad.mit.edu	37	6	169640616	169640616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:169640616C>T	ENST00000366787.3	-	7	1212	c.963G>A	c.(961-963)tgG>tgA	p.W321*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	321	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCCATCCTGCCAGCAAGCTG	0.517000													5	107					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30309016	30309016	+	Missense_Mutation	SNP	G	G	A	rs148488534	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr21:30309016G>A	ENST00000361371.4	-	26	4636	c.4486C>T	c.(4486-4488)Cgg>Tgg	p.R1496W	LTN1_ENST00000389194.2_Missense_Mutation_p.R1542W	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1496							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TACAAAGCCCGAAGCTGGTGG	0.368000													68	294					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48605577	48605577	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48605577G>A	ENST00000323776.5	+	16	2644	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.V791M	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	791					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCTGAGGTCTGTGCTGGGCCT	0.532000													23	24					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991437	144991437	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:144991437G>A	ENST00000322810.4	-	32	13132	c.12963C>T	c.(12961-12963)tcC>tcT	p.S4321S	PLEC_ENST00000356346.3_Silent_p.S4170S|PLEC_ENST00000345136.3_Silent_p.S4184S|PLEC_ENST00000398774.2_Silent_p.S4152S|PLEC_ENST00000354589.3_Silent_p.S4184S|PLEC_ENST00000527096.1_Silent_p.S4207S|PLEC_ENST00000354958.2_Silent_p.S4162S|PLEC_ENST00000357649.2_Silent_p.S4188S|PLEC_ENST00000436759.2_Silent_p.S4211S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4321	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTCCGAGGAGGAGATGGTGA	0.612000													10	126					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363455	22363455	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:22363455T>C	ENST00000397121.2	-	3	1381	c.1064A>G	c.(1063-1065)cAt>cGt	p.H355R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATAATCTTATGTTTAGTAAG	0.388000													59	111					0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27593739	27593739	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:27593739G>T	ENST00000356537.4	-	9	714	c.621C>A	c.(619-621)ttC>ttA	p.F207L	CCDC25_ENST00000539095.1_Missense_Mutation_p.F139L|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.F139L	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	207										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CCTTTTACATGAATTCATCTG	0.289000													40	37					1.32136e-16	1.58897e-16	1	1	0
MAN2A1	4124	broad.mit.edu	37	5	109200755	109200755	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:109200755A>G	ENST00000261483.4	+	21	4242	c.3190A>G	c.(3190-3192)Aat>Gat	p.N1064D	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1064					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGGCACTCCAATGAGGCAGC	0.473000													16	22					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43018713	43018713	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:43018713G>A	ENST00000535468.1	-	4	1564	c.1478C>T	c.(1477-1479)cCt>cTt	p.P493L	CUL7_ENST00000265348.3_Missense_Mutation_p.P409L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	409					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACCTGCACAGGAGGCACACC	0.602000													4	107					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532716	92532716	+	Silent	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:92532716C>A	ENST00000298047.6	+	9	6554	c.6537C>A	c.(6535-6537)gtC>gtA	p.V2179V	FAT3_ENST00000525166.1_Silent_p.V2029V|FAT3_ENST00000409404.2_Silent_p.V2179V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2179	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACTATTGTCAACAAAGCAA	0.443000										TCGA Ovarian(4;0.039)			9	40					4.68919e-08	5.17992e-08	1	1	0
MGAM	8972	broad.mit.edu	37	7	141767225	141767225	+	Splice_Site	SNP	C	C	T	rs7778384	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:141767225C>T	ENST00000475668.2	+	42	5058	c.5004_splice	c.e42+1	p.R1668_splice	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1668	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592000													4	69					0	0	1	0	0
C19orf25	148223	broad.mit.edu	37	19	1475023	1475023	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:1475023C>A	ENST00000588871.1	-	4	307	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	C19orf25_ENST00000427685.2_3'UTR|C19orf25_ENST00000588849.1_3'UTR|C19orf25_ENST00000436106.2_3'UTR|C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000585675.1_3'UTR|C19orf25_ENST00000592872.1_3'UTR|C19orf25_ENST00000586564.1_3'UTR	NM_152482.2	NP_689695.2	Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25	0							protein binding						Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGGCCCCGAGAGGTCA	0.701000													3	10					6.4e-05	6.84579e-05	1	1	0
DNAJC15	29103	broad.mit.edu	37	13	43643069	43643069	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:43643069G>A	ENST00000379221.2	+	3	588	c.164G>A	c.(163-165)cGc>cAc	p.R55H	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	55						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TATTTAGGTCGCTACGCATTT	0.333000													35	9					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898311	64898311	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:64898311C>T	ENST00000555709.1	+	14	1760	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V	MTHFD1_ENST00000555252.1_Missense_Mutation_p.A438V|MTHFD1_ENST00000216605.7_Missense_Mutation_p.A514V|MTHFD1_ENST00000545908.1_Missense_Mutation_p.A514V|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	458	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTCGTTGCTGCGGCCATTGAT	0.468000													30	94					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287774	16287774	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:16287774T>C	ENST00000343518.6	-	1	163	c.112A>G	c.(112-114)Agc>Ggc	p.S38G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	38										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.592000													5	364					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121509782	121509782	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:121509782A>G	ENST00000305949.1	+	14	1642	c.1597A>G	c.(1597-1599)Aat>Gat	p.N533D		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	533	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAAAACCTTCAATATATTAAA	0.259000													9	82					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48824016	48824016	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48824016G>T	ENST00000505658.1	+	9	1280	c.1091G>T	c.(1090-1092)aGg>aTg	p.R364M	LUC7L3_ENST00000544170.1_Missense_Mutation_p.R288M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R364M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R364M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	364	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TATAAGCACAGGAGCAAAAGT	0.408000													15	73					6.31663e-08	6.96417e-08	1	1	0
KIAA1456	57604	broad.mit.edu	37	8	12878930	12878930	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:12878930C>A	ENST00000524591.2	+	5	1231	c.742C>A	c.(742-744)Cgt>Agt	p.R248S	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	248							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAATCGTTTCGTTCCTGGTT	0.418000													13	52					3.27435e-08	3.62404e-08	1	1	0
POU3F2	5454	broad.mit.edu	37	6	99283725	99283725	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:99283725C>T	ENST00000328345.5	+	1	1146	c.976C>T	c.(976-978)Cct>Tct	p.P326S		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	326	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CAAGCTGAAGCCTTTGTTGAA	0.587000													41	186					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67588981	67588981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:67588981C>T	ENST00000521381.1	+	9	1688	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R88*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R58*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000523872.1_5'UTR	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	358	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R358*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTTTTTGGTACGAGATGCGTC	0.378000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			43	6					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81578132	81578132	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:81578132T>C	ENST00000394660.2	+	10	1653	c.1293T>C	c.(1291-1293)ggT>ggC	p.G431G	IL16_ENST00000302987.4_Silent_p.G431G	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	431	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGATCCCGGTCCAGTCCCCA	0.517000													15	110					0	0	1	0	0
CHCHD4	131474	broad.mit.edu	37	3	14163467	14163467	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:14163467G>A	ENST00000295767.5	-	2	335	c.11C>T	c.(10-12)tCg>tTg	p.S4L	CHCHD4_ENST00000396914.3_Intron	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	0					protein transport|transmembrane transport	mitochondrial intermembrane space		p.S4L(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						AGATGAATACGACACAGGCAT	0.493000													34	8					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99053045	99053045	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:99053045T>C	ENST00000357310.1	+	5	1211	c.634T>C	c.(634-636)Ttt>Ctt	p.F212L	APAF1_ENST00000549007.1_Missense_Mutation_p.F212L|APAF1_ENST00000359972.2_Missense_Mutation_p.F201L|APAF1_ENST00000339433.3_Missense_Mutation_p.F212L|APAF1_ENST00000333991.1_Missense_Mutation_p.F212L|APAF1_ENST00000547045.1_Missense_Mutation_p.F212L|APAF1_ENST00000552268.1_Missense_Mutation_p.F212L|APAF1_ENST00000551964.1_Missense_Mutation_p.F212L|APAF1_ENST00000550527.1_Missense_Mutation_p.F201L	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	212	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GGATGAGAGTTTTTCCCAGAG	0.473000													25	127					0	0	1	0	0
LONRF1	91694	broad.mit.edu	37	8	12598402	12598402	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:12598402G>A	ENST00000398246.3	-	3	1013	c.944C>T	c.(943-945)gCa>gTa	p.A315V	LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	315					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTGCAGCTTTGCAGGTGCAAA	0.388000													33	112					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368024	72368024	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:72368024A>G	ENST00000335666.4	+	4	722	c.674A>G	c.(673-675)cAg>cGg	p.Q225R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	225						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGGCCCGCCAGGTGCCCCAG	0.617000													15	18					0	0	1	0	0
BMPR1A	657	broad.mit.edu	37	10	88649931	88649931	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:88649931G>A	ENST00000372037.2	+	4	717	c.180G>A	c.(178-180)aaG>aaA	p.K60K		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	60					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CTTTTTTAAAGTGCTATTGCT	0.403000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				85	25					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	21					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13375941	13375941	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:13375941G>A	ENST00000389708.3	+	5	441	c.86G>A	c.(85-87)gGt>gAt	p.G29D	ARNTL_ENST00000389707.4_Missense_Mutation_p.G29D|ARNTL_ENST00000403290.1_Missense_Mutation_p.G29D|ARNTL_ENST00000361003.4_Missense_Mutation_p.G29D|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.G29D			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	29					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AGCTCTCTTGGTACCAGTGGT	0.512000													13	92					0	0	1	0	0
TANK	10010	broad.mit.edu	37	2	162091951	162091951	+	Silent	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:162091951A>G	ENST00000392749.2	+	8	1439	c.1200A>G	c.(1198-1200)caA>caG	p.Q400Q	AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Silent_p.Q400Q|TANK_ENST00000405852.1_3'UTR|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	400						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AATTCTGTCAAGCAGTTTTCC	0.438000													34	144					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:152279854G>A	ENST00000368799.1	-	3	7543	c.7508C>T	c.(7507-7509)gCc>gTc	p.A2503V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547000									Ichthyosis				144	542					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209179974	209179974	+	Silent	SNP	A	A	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:209179974A>T	ENST00000264380.4	+	15	2042	c.1884A>T	c.(1882-1884)tcA>tcT	p.S628S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	628					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATAGTGACTCACTGTCATCAT	0.423000													42	76					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50962564	50962564	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:50962564G>A	ENST00000357701.5	+	23	2842		c.e23+1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGCGTTGTGGGTGCGCGCGCT	0.687000													24	28					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20981271	20981271	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:20981271G>A	ENST00000261383.3	-	52	8300	c.8301C>T	c.(8299-8301)ctC>ctT	p.L2767L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2767	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGCAGCCTCGAGTGCAGGCA	0.607000													24	99					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232202	110232202	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:110232202C>T	ENST00000418703.2	-	7	1517	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	TRPV4_ENST00000392719.2_Missense_Mutation_p.V428M|TRPV4_ENST00000544971.1_Missense_Mutation_p.V368M|TRPV4_ENST00000537083.1_Missense_Mutation_p.V415M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V441M|TRPV4_ENST00000261740.2_Missense_Mutation_p.V475M|TRPV4_ENST00000346520.2_Missense_Mutation_p.V415M|TRPV4_ENST00000541794.1_Missense_Mutation_p.V428M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	475					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TAGGAGACCACGTTGATGTAG	0.622000													52	69					0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100035004	100035004	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:100035004A>G	ENST00000394144.4	+	16	1667	c.1660A>G	c.(1660-1662)Att>Gtt	p.I554V	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.I417V|TBC1D23_ENST00000344949.5_Missense_Mutation_p.I539V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	554						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGTTTTCAGCATTGGGGATGA	0.423000													12	20					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214409	13214409	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:13214409C>T	ENST00000378694.1	+	3	458	c.383C>T	c.(382-384)gCc>gTc	p.A128V	MCM10_ENST00000484800.2_Missense_Mutation_p.A128V|MCM10_ENST00000378714.3_Missense_Mutation_p.A128V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	128					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAAATGAAGGCCTTACAAGAG	0.403000													8	327					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105896983	105896983	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:105896983A>G	ENST00000393359.2	-	6	1745	c.1319T>C	c.(1318-1320)gTa>gCa	p.V440A	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V440A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	440					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						GCCATTTGCTACCTCTGTGCT	0.562000													14	79					0	0	1	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291278	126291278	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:126291278A>G	ENST00000383572.2	-	3	587	c.109T>C	c.(109-111)Tgc>Cgc	p.C37R	TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.C37R	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	37										endometrium(1)|large_intestine(2)|skin(2)	5						GTGTGGGAGCAGCAGCAAGCC	0.577000													19	74					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25958323	25958323	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:25958323T>C	ENST00000395473.2	+	1	1500	c.32T>C	c.(31-33)cTg>cCg	p.L11P	LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_5'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.L11P|LGALS9_ENST00000310394.5_Missense_Mutation_p.L11P|LGALS9_ENST00000302228.5_Missense_Mutation_p.L11P|AC015688.3_ENST00000584605.1_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	11					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTCCCTACCTGAGTCCAGTG	0.627000													7	63					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66807584	66807584	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66807584G>T	ENST00000393946.2	+	7	1693	c.531G>T	c.(529-531)aaG>aaT	p.K177N	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Missense_Mutation_p.K177N|SYT12_ENST00000527043.1_Missense_Mutation_p.K177N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	177	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGCAGGGCAAGGACCTCCTGG	0.632000													5	44					0.014758	0.0149681	1	1	0
KBTBD4	55709	broad.mit.edu	37	11	47599055	47599055	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:47599055G>A	ENST00000533290.1	-	1	1286	c.572C>T	c.(571-573)gCc>gTc	p.A191V	KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166V|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182V|KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215V|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A166V			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACAGTGCTTGGCAGCCGTATA	0.542000													31	209					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201352259	201352259	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:201352259G>A	ENST00000391967.2	-	7	1630	c.1329C>T	c.(1327-1329)caC>caT	p.H443H	LAD1_ENST00000488842.1_5'UTR|LAD1_ENST00000367313.3_Silent_p.H457H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	443						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCTCAAAGAGGTGGCGCTTGC	0.592000													50	171					0	0	1	0	0
TCEB2	6923	broad.mit.edu	37	16	2821598	2821598	+	Missense_Mutation	SNP	C	C	T	rs79638577		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:2821598C>T	ENST00000262306.7	-	5	398	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	TCEB2_ENST00000409906.4_3'UTR|TCEB2_ENST00000409477.1_3'UTR	NM_207013.2	NP_996896.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	0					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|prostate(1)	3						TGGGAGTGGACATGCAGGCTA	0.557000													4	131					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183910459	183910459	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:183910459G>A	ENST00000429586.2	+	17	1825	c.1640G>A	c.(1639-1641)gGc>gAc	p.G547D	ABCF3_ENST00000292808.5_Missense_Mutation_p.G541D|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	547	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGTTCGGGGCATCAGACAC	0.572000													7	16					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding (By similarity).		R -> G (in D2HGA2).|R -> Q (in D2HGA2).		2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537000			M		GBM								23	62					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411586	105411586	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:105411586A>G	ENST00000333244.5	-	7	10321	c.10202T>C	c.(10201-10203)aTg>aCg	p.M3401T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3401						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACTTTGGGCATCTTGAAACT	0.627000													216	333					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29018290	29018290	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:29018290G>A	ENST00000524189.1	-	13	1402	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A455V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	455					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCTGGGTCAGCATTCAGATT	0.388000													5	69					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66461787	66461787	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:66461787G>A	ENST00000533211.1	-	22	4657	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	SPTBN2_ENST00000529997.1_Silent_p.I1442I|SPTBN2_ENST00000309996.2_Silent_p.I1442I			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1442					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTGGGCCTGGATTGCCTCCA	0.607000											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	35					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10395480	10395480	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:10395480G>T	ENST00000264832.3	+	6	1527	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	ICAM1_ENST00000423829.2_Missense_Mutation_p.R179M|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	401					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CTGGACGAGAGGGATTGTCCG	0.567000													7	56					0.0293803	0.029588	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059210	248059210	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:248059210G>T	ENST00000537741.1	+	3	579	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	OR2W3_ENST00000360358.3_Missense_Mutation_p.G108C			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGGTCTGGGTGGTGTGGA	0.567000													45	73					1.06522e-23	1.30016e-23	1	1	0
CCDC33	80125	broad.mit.edu	37	15	74560687	74560687	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:74560687C>T	ENST00000321288.5	+	7	1043	c.1043C>T	c.(1042-1044)aCt>aTt	p.T348I	CCDC33_ENST00000398814.3_Missense_Mutation_p.T145I			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	348							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCCAGCCCACTGAGTCTGGG	0.562000													18	32					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46541882	46541882	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:46541882C>G	ENST00000242848.4	-	15	4426	c.4078G>C	c.(4078-4080)Gag>Cag	p.E1360Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1360Q|ZC3H13_ENST00000378921.2_Missense_Mutation_p.E316Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1360							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTAGtctctctctttcccta	0.443000													26	2					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699818	67699818	+	Silent	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:67699818T>C	ENST00000545606.1	+	10	2807	c.2370T>C	c.(2368-2370)ctT>ctC	p.L790L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	790					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCACAGCTCTTACTCATAAGC	0.433000													44	140					0	0	1	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81192499	81192499	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:81192499C>T	ENST00000372336.3	-	2	448	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.C28Y	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	88							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CCCTTGTACACACTGTTGCTC	0.582000													19	5					0	0	1	0	0
PMM2	5373	broad.mit.edu	37	16	8900255	8900255	+	Missense_Mutation	SNP	C	C	T	rs80338700		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:8900255C>T	ENST00000268261.4	+	4	404	c.338C>T	c.(337-339)cCg>cTg	p.P113L	PMM2_ENST00000539622.1_Missense_Mutation_p.P30L|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86L	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403000													48	65					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709778	24709778	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr14:24709778G>T	ENST00000399423.4	-	6	1238	c.908C>A	c.(907-909)cCt>cAt	p.P303H	TINF2_ENST00000538777.1_Missense_Mutation_p.P89H|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000267415.7_Missense_Mutation_p.P303H|TINF2_ENST00000540705.1_Missense_Mutation_p.P268H	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	303					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTTGCTCTCAGGCTTAGATAT	0.557000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				8	94					0.000157383	0.000166744	1	1	0
MAEL	84944	broad.mit.edu	37	1	166990329	166990329	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:166990329G>T	ENST00000367872.4	+	11	1293	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MAEL_ENST00000367870.2_Missense_Mutation_p.R319M|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	350					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CAGAAGCTAAGGGTTGGGAGT	0.338000													21	75					2.98393e-07	3.25832e-07	1	1	0
GPBAR1	151306	broad.mit.edu	37	2	219128050	219128050	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:219128050G>A	ENST00000522678.1	+	2	1471	c.603G>A	c.(601-603)cgG>cgA	p.R201R	GPBAR1_ENST00000479077.1_Silent_p.R201R|GPBAR1_ENST00000521462.1_Silent_p.R201R|GPBAR1_ENST00000519574.1_Silent_p.R201R	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	201						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATCTGCCGGCTGGAGCGGG	0.701000													14	27					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955793	18955793	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:18955793G>A	ENST00000302797.3	-	1	763	c.539C>T	c.(538-540)aCa>aTa	p.T180I	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	180					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACGCGACTGTGATGAAATC	0.532000													4	123					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370926	240370926	+	Silent	SNP	C	C	A	rs71170718		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:240370926C>A	ENST00000319653.9	+	5	3044	c.2814C>A	c.(2812-2814)ccC>ccA	p.P938P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	938	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGCGGGAA	0.697000													50	51					4.17463e-26	5.13939e-26	1	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17990994	17990994	+	Silent	SNP	C	C	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:17990994C>T	ENST00000361221.3	+	26	3072	c.2913C>T	c.(2911-2913)ccC>ccT	p.P971P	ARHGEF10L_ENST00000452522.1_Silent_p.P932P|ARHGEF10L_ENST00000375415.1_Silent_p.P932P|ARHGEF10L_ENST00000434513.1_Silent_p.P966P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.P744P|ARHGEF10L_ENST00000167825.4_Silent_p.P674P	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	971					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.P971P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGTGGGGCCCGGGCCTGTCC	0.692000													7	20					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179015	34179015	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:34179015G>A	ENST00000266483.2	+	3	906	c.587G>A	c.(586-588)tGt>tAt	p.C196Y	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	196					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGTCTTCTGTGCAGGAAAT	0.403000													136	173					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6609969	6609969	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:6609969C>A	ENST00000433363.2	-	3	593	c.360G>T	c.(358-360)aaG>aaT	p.K120N	SLC13A5_ENST00000381074.4_Missense_Mutation_p.K77N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K120N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K120N	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	120						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ACCGTGCAGGCTTGGCCCCCA	0.647000													3	21					0.004672	0.00481562	1	1	0
BMP2K	55589	broad.mit.edu	37	4	79792103	79792103	+	Silent	SNP	G	G	A	rs141745080		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:79792103G>A	ENST00000335016.5	+	11	1564	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BMP2K_ENST00000502871.1_Silent_p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	466	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcaacagc	0.547000													11	14					0	0	1	0	0
DCTN3	11258	broad.mit.edu	37	9	34618739	34618739	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:34618739T>C	ENST00000447983.2	-	2	168	c.115A>G	c.(115-117)Aag>Gag	p.K39E	DCTN3_ENST00000341694.2_Missense_Mutation_p.K39E|DCTN3_ENST00000477738.2_Missense_Mutation_p.K39E|DCTN3_ENST00000259632.7_Missense_Mutation_p.K39E|DCTN3_ENST00000378913.2_Missense_Mutation_p.K39E|DCTN3_ENST00000378916.4_Missense_Mutation_p.K39E			O75935	DCTN3_HUMAN	dynactin 3 (p22)	39					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		ACCTGCACCTTGACCAGGCCG	0.502000													16	37					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843542	4843542	+	Silent	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:4843542G>A	ENST00000322110.5	+	1	992	c.927G>A	c.(925-927)aaG>aaA	p.K309K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGTAAAGATTAAGCAGA	0.383000													126	100					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068414	48068414	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:48068414C>A	ENST00000297325.4	-	1	281	c.122_splice	c.e1+1	p.G41_splice	SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000395572.2_Splice_Site_p.G41_splice	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	41						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTACCTACCCATTCGCATC	0.463000													23	100					7.41877e-09	8.27534e-09	1	1	0
CASP8	841	broad.mit.edu	37	2	202141691	202141691	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:202141691G>A	ENST00000358485.4	+	7	1175	c.979_splice	c.e7+1	p.G327_splice	CASP8_ENST00000432109.2_Splice_Site_p.G268_splice|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Splice_Site_p.G285_splice|CASP8_ENST00000323492.7_Splice_Site_p.G253_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	268					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTTGGATGCAGGTACAGTAGA	0.373000										HNSCC(4;0.00038)			8	68					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513569	169513569	+	Missense_Mutation	SNP	C	C	T	rs140530655	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:169513569C>T	ENST00000367796.3	-	12	2156	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	F5_ENST00000367797.3_Missense_Mutation_p.R647H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	647	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGATTCTCCACGCATGGGGAA	0.473000													27	49					0	0	1	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168240	1168240	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:1168240delG	ENST00000379198.2	+	1	612	c.582delG	c.(580-582)ccfs	p.P194fs		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	194					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGTCAAGCCGGGGGGGCGCT	0.771													4	7	---	---	---	---					
MRPS15	64960	broad.mit.edu	37	1	36921846	36921846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:36921846delG	ENST00000373116.5	-	7	739	c.578delC	c.(577-579)ctfs	p.P193fs	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	193					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTAATACAGAGGGGGGAAGGT	0.512													10	83	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43888902	43888902	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:43888902delC	ENST00000562955.1	+	15	2170	c.2170delC	c.(2170-2172)ccfs	p.P725fs	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	725						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCCAAGTCACCCCCCGTGCT	0.627													8	26	---	---	---	---					
CYP4Z2P	163720	broad.mit.edu	37	1	47339125	47339125	+	RNA	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:47339125delC	ENST00000505841.1	-	0	775					NR_002788.2																						CCCCCTGGCACCCCCCCCATG	0.443													5	10	---	---	---	---					
GLIS1	148979	broad.mit.edu	37	1	54060231	54060232	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:54060231_54060232insC	ENST00000312233.2	-	3	910_911	c.344_345insG	c.(343-345)gccfs	p.A115fs		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	115					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTTGGAAGGGCCCCCCAGATC	0.649													17	62	---	---	---	---					
TGFBR3	7049	broad.mit.edu	37	1	92200471	92200473	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:92200471_92200473delAGG	ENST00000212355.4	-	5	893_895	c.428_430delCCT	c.(427-432)ttg>t	p.SL143del	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_In_Frame_Del_p.SL143del|TGFBR3_ENST00000525962.1_In_Frame_Del_p.SL143del	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	143					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTGCTGTCAAGGAGAAGTTTGC	0.438													88	90	---	---	---	---					
PHTF1	10745	broad.mit.edu	37	1	114242392	114242393	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:114242392_114242393insT	ENST00000369604.1	-	17	2558_2559	c.2075_2076insA	c.(2074-2076)accfs	p.T692fs	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.T647fs|PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.T692fs|PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.T639fs|PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.T639fs			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	692						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTATTTGGCTTTTTTTCCAT	0.282													10	31	---	---	---	---					
RSBN1	54665	broad.mit.edu	37	1	114310991	114310991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:114310991delT	ENST00000261441.5	-	5	1742	c.1679delA	c.(1678-1680)atfs	p.N560fs		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	560						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTGGAGATTTTTTATTTC	0.408													58	48	---	---	---	---					
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													7	11	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147092657	147092659	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:147092657_147092659delCAG	ENST00000234739.3	+	8	3436_3438	c.2696_2698delCAG	c.(2695-2700)cct>c	p.PA899del		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	899	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGGCGGGCCCAGCTGCTGCTGC	0.626			T	"""IGH@, IGL@"""	B-ALL								13	88	---	---	---	---					
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:156642804delG	ENST00000368223.3	-	4	1308	c.1176delC	c.(1174-1176)ccfs	p.P392fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	392	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597													53	171	---	---	---	---					
AVPR1B	553	broad.mit.edu	37	1	206224854	206224854	+	Frame_Shift_Del	DEL	C	C	-	rs146412534	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr1:206224854delC	ENST00000367126.4	+	1	879	c.414delC	c.(412-414)cafs	p.H138fs		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	138					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGTCTGTCACCCCCTGCGCA	0.622													13	89	---	---	---	---					
GRHL1	29841	broad.mit.edu	37	2	10102641	10102642	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:10102641_10102642insT	ENST00000324907.9	+	5	863_864	c.727_728insT	c.(727-729)tttfs	p.F243fs	GRHL1_ENST00000405379.2_Frame_Shift_Ins_p.F243fs|GRHL1_ENST00000324883.5_Intron	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	243					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AGAGGACTATGTTTTTGACAGT	0.342													11	33	---	---	---	---					
SNRNP27	11017	broad.mit.edu	37	2	70131463	70131463	+	Frame_Shift_Del	DEL	T	T	-	rs79372020		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:70131463delT	ENST00000409116.1	+	5	452	c.426delT	c.(424-426)gafs	p.D142fs	SNRNP27_ENST00000244227.3_3'UTR			Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	0					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TGAAGGATGATTTTTTTTCCC	0.348													14	81	---	---	---	---					
EXOC6B	23233	broad.mit.edu	37	2	72740374	72740375	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:72740374_72740375insA	ENST00000272427.6	-	11	1183_1184	c.1053_1054insT	c.(1051-1056)tttggtfs	p.G352fs	EXOC6B_ENST00000410104.1_Frame_Shift_Ins_p.G352fs	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	352					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCTTCAACCACAAAAAAGCTAA	0.376													14	83	---	---	---	---					
C2orf78	388960	broad.mit.edu	37	2	74043174	74043175	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:74043174_74043175insA	ENST00000409561.1	+	3	1945_1946	c.1824_1825insA	c.(1822-1827)aaaaaafs	p.KK608fs		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	608	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGAAACGGAAGAAAAATCAACC	0.450													8	55	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98378554	98378554	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:98378554delG	ENST00000186436.5	-	36	5061	c.4833delC	c.(4831-4833)ccfs	p.P1611fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1611						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAGGGGCAGGGGGCAGCTG	0.562													9	29	---	---	---	---					
MRPL30	51263	broad.mit.edu	37	2	99804703	99804704	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:99804703_99804704delTC	ENST00000338148.3	+	3	313_314	c.115_116delTC	c.(115-117)afs	p.S39fs	C2orf15_ENST00000512183.2_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000410042.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000409145.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000465432.1_Intron	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	39					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTCACCAGATCAAGAATTCCA	0.282													12	33	---	---	---	---					
AFF3	3899	broad.mit.edu	37	2	100171155	100171155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:100171155delC	ENST00000317233.4	-	22	3560	c.3325delG	c.(3325-3327)ccfs	p.A1109fs	AFF3_ENST00000409579.1_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.A1109fs	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1109					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTCCACTGGCCCCCCACGGA	0.522													9	80	---	---	---	---					
BUB1	699	broad.mit.edu	37	2	111413465	111413465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:111413465delA	ENST00000535254.1	-	15	1734	c.1667delT	c.(1666-1668)tgfs	p.L556fs	BUB1_ENST00000302759.6_Frame_Shift_Del_p.L576fs|BUB1_ENST00000409311.1_Frame_Shift_Del_p.L576fs	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	576					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAGTCATCCAAAAACTCTTC	0.438													60	231	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141356335	141356336	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:141356335_141356336insT	ENST00000389484.3	-	43	8029_8030	c.7058_7059insA	c.(7057-7059)agcfs	p.S2353fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2353					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACTTGAGCATTTTTCCCAGT	0.366										TSP Lung(27;0.18)			25	98	---	---	---	---					
ERMN	57471	broad.mit.edu	37	2	158178245	158178247	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:158178245_158178247delCTT	ENST00000410096.1	-	3	682_684	c.391_393delAAG	c.(391-393)del	p.K131del	ERMN_ENST00000535935.1_In_Frame_Del_p.K25del|ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000420719.2_In_Frame_Del_p.K111del|ERMN_ENST00000397283.2_In_Frame_Del_p.K144del	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	131						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TAATCCTCTCCTTCTGTCTTCTT	0.448													24	80	---	---	---	---					
HOXD13	3239	broad.mit.edu	37	2	176957811	176957813	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:176957811_176957813delGCG	ENST00000392539.3	+	1	193_195	c.193_195delGCG	c.(193-195)del	p.A71del		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	71	Poly-Ala.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		agcggcggctgcggcggcggcgg	0.773			T	NUP98	AML*								3	4	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202622168	202622169	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:202622168_202622169delCT	ENST00000264276.6	-	5	1799_1800	c.1427_1428delAG	c.(1426-1428)gfs	p.E476fs		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	476					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GACTGCCTCCCTCTGTTTCTTC	0.436													52	84	---	---	---	---					
AC072062.1	0	broad.mit.edu	37	2	215712226	215712227	+	RNA	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:215712226_215712227insA	ENST00000607412.1	+	0	321																											TACTTCCTGTCAAAAAAATGTC	0.386													8	32	---	---	---	---					
SPEG	10290	broad.mit.edu	37	2	220312872	220312872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:220312872delC	ENST00000312358.7	+	4	1124	c.992delC	c.(991-993)acfs	p.T331fs	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.T227fs|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	331	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCGCGGCCACCCCCACGTCG	0.736													7	15	---	---	---	---					
HJURP	55355	broad.mit.edu	37	2	234749677	234749679	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr2:234749677_234749679delTTC	ENST00000411486.2	-	8	1812_1814	c.1747_1749delGAA	c.(1747-1749)del	p.E583del	HJURP_ENST00000441687.1_In_Frame_Del_p.E498del|HJURP_ENST00000432087.1_In_Frame_Del_p.E529del	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	583					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCTTGTCAAATTCTTCTTTAATT	0.404													18	165	---	---	---	---					
CELSR3	1951	broad.mit.edu	37	3	48699646	48699648	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:48699646_48699648delGAG	ENST00000544264.1	-	1	700_702	c.420_422delCTC	c.(418-423)tct>tc	p.SS140del	CELSR3_ENST00000164024.4_In_Frame_Del_p.SS140del			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	140					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCCCGCAAGAGGAGACCTCTG	0.635													69	38	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50099449	50099450	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:50099449_50099450insA	ENST00000443081.1	+	15	3017_3018	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs	RBM6_ENST00000442092.1_Frame_Shift_Ins_p.K310fs|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Frame_Shift_Ins_p.K310fs|RBM6_ENST00000266022.4_Frame_Shift_Ins_p.K832fs|RBM6_ENST00000539992.1_Frame_Shift_Ins_p.K174fs			P78332	RBM6_HUMAN	RNA binding motif protein 6	832					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGATCAAGGAAAAAAAACCC	0.426													41	19	---	---	---	---					
NT5DC2	64943	broad.mit.edu	37	3	52559266	52559266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:52559266delG	ENST00000307076.4	-	11	1454	c.1054delC	c.(1054-1056)gcfs	p.R352fs	NT5DC2_ENST00000422318.2_Frame_Shift_Del_p.R389fs|NT5DC2_ENST00000307092.4_Frame_Shift_Del_p.R293fs|NT5DC2_ENST00000459839.1_Frame_Shift_Del_p.R364fs	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	352							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TAGAGCACGCGGGGGCCACGC	0.642													11	24	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:114058003delG	ENST00000462705.1	-	12	2677	c.1856delC	c.(1855-1857)ctfs	p.P619fs	ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													25	68	---	---	---	---					
PLCH1	23007	broad.mit.edu	37	3	155301373	155301374	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:155301373_155301374insA	ENST00000460012.1	-	6	925_926	c.568_569insT	c.(568-570)caafs	p.Q190fs	PLCH1_ENST00000447496.2_Frame_Shift_Ins_p.Q208fs|PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.Q190fs|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.Q190fs|PLCH1_ENST00000494598.1_Frame_Shift_Ins_p.Q208fs|PLCH1_ENST00000340059.7_Frame_Shift_Ins_p.Q208fs			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	208	EF-hand 2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATCATTTTGTAAAAAACACAG	0.361													18	73	---	---	---	---					
SLC33A1	9197	broad.mit.edu	37	3	155560343	155560344	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr3:155560343_155560344insT	ENST00000392845.2	-	2	1220_1221	c.840_841insA	c.(838-843)aaaaaafs	p.KK280fs	SLC33A1_ENST00000359479.3_Frame_Shift_Ins_p.KK280fs	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	280					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTTCGTTTTCTTTTTTCAGAA	0.292													8	86	---	---	---	---					
HGFAC	3083	broad.mit.edu	37	4	3449218	3449219	+	Splice_Site	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:3449218_3449219insC	ENST00000382774.3	+	11	1470_1471		c.e11-1		HGFAC_ENST00000511533.1_Splice_Site	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator						proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R455fs*91(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCTTGCACAGCCCCCCCAGGG	0.673													8	101	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26426078	26426078	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:26426078delG	ENST00000342320.4	+	6	784	c.608delG	c.(607-609)tgfs	p.W203fs	RBPJ_ENST00000507561.1_Frame_Shift_Del_p.W182fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.W204fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.W217fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.W202fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.W217fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	217					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TCACAGCAGTGGGGAGCCTTT	0.363													99	35	---	---	---	---					
FAM175A	84142	broad.mit.edu	37	4	84390298	84390298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr4:84390298delA	ENST00000321945.7	-	6	591	c.483delT	c.(481-483)ttfs	p.F161fs	FAM175A_ENST00000506553.1_Frame_Shift_Del_p.F112fs|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	161					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						GTACCCTGTGAAAAAGTCTGA	0.378													7	127	---	---	---	---					
SDHAP3	728609	broad.mit.edu	37	5	1593156	1593156	+	RNA	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:1593156delA	ENST00000436493.2	-	0	398																											accctttctcaaaaaaaagaa	0.507													10	16	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14477004	14477004	+	Splice_Site	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:14477004delT	ENST00000344204.4	+	41	6109	c.6083_splice	c.e41-1	p.F2030_splice	TRIO_ENST00000537187.1_Splice_Site_p.F2030_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2030	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTTTCCAGCTTTTTTTTAGG	0.308													16	64	---	---	---	---					
HARS2	23438	broad.mit.edu	37	5	140078098	140078098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:140078098delT	ENST00000230771.3	+	13	1705	c.1482delT	c.(1480-1482)aafs	p.N494fs	HARS2_ENST00000508522.1_Frame_Shift_Del_p.N469fs|HARS2_ENST00000437649.2_Frame_Shift_Del_p.N420fs|HARS2_ENST00000435019.2_Frame_Shift_Del_p.N454fs|HARS2_ENST00000432671.2_Frame_Shift_Del_p.N380fs|HARS2_ENST00000448069.2_Frame_Shift_Del_p.N322fs	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	494					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGGGAAAATTTTGTGGCTG	0.398													8	218	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176696801	176696802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr5:176696801_176696802insA	ENST00000439151.2	+	16	5547_5548	c.5502_5503insA	c.(5500-5505)taaaaafs	p.*K1834fs	NSD1_ENST00000347982.4_Frame_Shift_Ins_p.*K1565fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.*K1731fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.*K1565fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1834					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.A1837fs*10(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGGACATATAAAAAAGGTAA	0.426			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			31	19	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30652622	30652623	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:30652622_30652623delCT	ENST00000274853.3	-	1	3049_3050	c.1173_1174delAG	c.(1171-1176)agccfs	p.RA391fs	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.RA391fs	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	391						cytoplasm|cytoskeleton	actin binding										TTCTGCAGGGCTCTCAGAGGCC	0.649													9	102	---	---	---	---					
SLC44A4	80736	broad.mit.edu	37	6	31842534	31842535	+	Frame_Shift_Ins	INS	-	-	T	rs114957103	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:31842534_31842535insT	ENST00000544672.1	-	6	499_500	c.203_204insA	c.(202-204)aagfs	p.K68fs	SLC44A4_ENST00000229729.6_Frame_Shift_Ins_p.K144fs|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	144						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAAAGTTCCTGTTTTTTGTATA	0.545													21	77	---	---	---	---					
GLTSCR1L	23506	broad.mit.edu	37	6	42832626	42832627	+	Frame_Shift_Ins	INS	-	-	A	rs139801339		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:42832626_42832627insA	ENST00000314073.5	+	13	2858_2859	c.2682_2683insA	c.(2680-2685)tcaaaafs	p.SK894fs	GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.SK894fs					GLTSCR1-like																		GAAACATTTCTAAAAAAACAGA	0.490													11	65	---	---	---	---					
SH3BGRL2	83699	broad.mit.edu	37	6	80406213	80406213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:80406213delT	ENST00000369838.4	+	3	422	c.243delT	c.(241-243)agfs	p.S81fs		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	81						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		ATTATGACAGTTTTTTTGAAT	0.313													67	113	---	---	---	---					
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)tcfs	p.F208fs	MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343													71	123	---	---	---	---					
BEND3	57673	broad.mit.edu	37	6	107389947	107389947	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:107389947delT	ENST00000429433.2	-	5	3097	c.2448delA	c.(2446-2448)aafs	p.K816fs	BEND3_ENST00000369042.1_Frame_Shift_Del_p.K816fs	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	816	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGATGTCGCATTTTTTCCTGT	0.577													57	75	---	---	---	---					
SCML4	256380	broad.mit.edu	37	6	108076790	108076791	+	Frame_Shift_Ins	INS	-	-	G	rs75302347		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:108076790_108076791insG	ENST00000369021.3	-	1	52_53	c.53_54insC	c.(52-54)cttfs	p.L18fs	SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCCAGTGGAATGGGGGGGTTCT	0.480													23	115	---	---	---	---					
RPF2	84154	broad.mit.edu	37	6	111329324	111329324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:111329324delA	ENST00000441448.2	+	7	569	c.477delA	c.(475-477)ctfs	p.L159fs		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	159	Brix.					nucleolus	protein binding	p.L159_S161del(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						ATAGAAGACTAAAAAGTCTTC	0.353													22	95	---	---	---	---					
GOPC	57120	broad.mit.edu	37	6	117884426	117884426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:117884426delT	ENST00000535237.1	-	9	1609	c.1380delA	c.(1378-1380)aafs	p.K460fs	GOPC_ENST00000368498.2_Frame_Shift_Del_p.K460fs|GOPC_ENST00000052569.6_Frame_Shift_Del_p.K452fs|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Intron					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TTTAATAAGATTTTTTATGAT	0.408			O	ROS1	glioblastoma								36	126	---	---	---	---					
TRDN	10345	broad.mit.edu	37	6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)ttafs	p.L297fs	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													3	5	---	---	---	---					
CASD1	64921	broad.mit.edu	37	7	94185016	94185017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:94185016_94185017insT	ENST00000297273.4	+	18	2627_2628	c.2340_2341insT	c.(2338-2343)gcttttfs	p.AF780fs		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	780						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTATAGCTGCATTTTTTTGTGG	0.342													12	86	---	---	---	---					
CBLL1	79872	broad.mit.edu	37	7	107399402	107399402	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:107399402delC	ENST00000440859.2	+	6	1722	c.1255delC	c.(1255-1257)ccfs	p.P421fs	CBLL1_ENST00000222597.2_Frame_Shift_Del_p.P420fs	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	421	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGTAACTGCACCCCCTCCTCA	0.517													37	82	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139833448	139833448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:139833448delT	ENST00000397560.2	-	3	386	c.289delA	c.(289-291)ggfs	p.R98fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.R98fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		98	Linker.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CAGTTCCTCCTTTTTTTCACT	0.338													20	73	---	---	---	---					
OR6V1	346517	broad.mit.edu	37	7	142749550	142749551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr7:142749550_142749551insG	ENST00000418316.1	+	1	134_135	c.113_114insG	c.(112-114)aggfs	p.R38fs		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTCGCCTTCATGGGAAACACCA	0.500													55	169	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---					
DMTN	2039	broad.mit.edu	37	8	21926551	21926552	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:21926551_21926552insC	ENST00000358242.3	+	5	767_768	c.274_275insC	c.(274-276)cccfs	p.P92fs	DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000523266.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs					dematin actin binding protein																		CAAATCCACATCCCCCCCACCA	0.604													12	90	---	---	---	---					
RP1	6101	broad.mit.edu	37	8	55538415	55538416	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:55538415_55538416insA	ENST00000220676.1	+	4	2121_2122	c.1973_1974insA	c.(1972-1974)caafs	p.Q658fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	658					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAAACTTCCAAAAAATGAAA	0.366													14	82	---	---	---	---					
RP11-941H19.3	0	broad.mit.edu	37	8	81213788	81213788	+	RNA	DEL	C	C	-	rs71266069		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:81213788delC	ENST00000522044.1	+	0	404																											CCCCCCACCACcacacacaca	0.552													4	5	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Splice_Site	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													9	150	---	---	---	---					
SH3GL2	6456	broad.mit.edu	37	9	17793391	17793392	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:17793391_17793392insA	ENST00000380607.4	+	8	875_876	c.755_756insA	c.(754-756)aagfs	p.K252fs	SH3GL2_ENST00000537391.1_Frame_Shift_Ins_p.K205fs	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	252					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCTCAGCCTAGAAGGGAATATC	0.426													26	32	---	---	---	---					
CNTRL	11064	broad.mit.edu	37	9	123917020	123917021	+	Frame_Shift_Del	DEL	TG	TG	-	rs3736855	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:123917020_123917021delTG	ENST00000373855.1	+	27	4454_4455	c.4194_4195delTG	c.(4192-4197)gtagfs	p.VE1398fs	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Frame_Shift_Del_p.VE846fs|CNTRL_ENST00000238341.5_Frame_Shift_Del_p.VE1398fs|CNTRL_ENST00000373847.1_Frame_Shift_Del_p.VE846fs			Q7Z7A1	CNTRL_HUMAN	centriolin	1398					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGGAAATGTTGAGAGTCTTAT	0.307													22	8	---	---	---	---					
RAPGEF1	2889	broad.mit.edu	37	9	134504527	134504527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr9:134504527delG	ENST00000372195.1	-	7	1098	c.855delC	c.(853-855)ccfs	p.P285fs	RAPGEF1_ENST00000372189.3_Frame_Shift_Del_p.P268fs|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Frame_Shift_Del_p.P286fs			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	268					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAGGAGGCTTGGGGGGCGCGA	0.537													18	45	---	---	---	---					
ITGB1	3688	broad.mit.edu	37	10	33208969	33208969	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:33208969delT	ENST00000396033.2	-	11	1448	c.1313delA	c.(1312-1314)agfs	p.K438fs	ITGB1_ENST00000302278.3_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000374956.4_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000423113.1_Frame_Shift_Del_p.K438fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	438					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GTCAGAATCCTTTTTTGGACA	0.338													81	257	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55566748	55566749	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:55566748_55566749delAT	ENST00000373965.2	-	36	5039_5040	c.4645_4646delAT	c.(4645-4647)tfs	p.I1549fs	PCDH15_ENST00000414778.1_Frame_Shift_Del_p.I1546fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCTGTGCAATATATATATTG	0.470										HNSCC(58;0.16)			38	21	---	---	---	---					
USP54	159195	broad.mit.edu	37	10	75299343	75299344	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:75299343_75299344insA	ENST00000339859.4	-	9	933_934	c.833_834insT	c.(832-834)tagfs	p.*278fs	USP54_ENST00000319786.7_Frame_Shift_Ins_p.*278fs|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Frame_Shift_Ins_p.*278fs|USP54_ENST00000428547.1_Frame_Shift_Ins_p.*128fs|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	278					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCGTCACTCTGAAAAACAGCTG	0.401													30	34	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104174659	104174661	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:104174659_104174661delTCT	ENST00000020673.5	-	4	1609_1611	c.1083_1085delAGA	c.(1081-1086)gat>ga	p.ED361del	PSD_ENST00000406432.1_In_Frame_Del_p.ED361del	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	361					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GTCGTCCACATCTTCTTCCCCAC	0.660													43	12	---	---	---	---					
INPP5F	22876	broad.mit.edu	37	10	121556338	121556339	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr10:121556338_121556339insC	ENST00000361976.2	+	7	947_948	c.781_782insC	c.(781-783)cccfs	p.P261fs	INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.P261fs	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	261	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCAG	0.480													10	58	---	---	---	---					
KRTAP5-1	387264	broad.mit.edu	37	11	1605893	1605893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:1605893delC	ENST00000382171.2	-	1	620	c.587delG	c.(586-588)gtfs	p.G196fs	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	196	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCACAACCCCCCTTGGA	0.672													15	162	---	---	---	---					
CYB5R2	51700	broad.mit.edu	37	11	7690551	7690552	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:7690551_7690552insT	ENST00000533558.1	-	5	828_829	c.272_273insA	c.(271-273)agtfs	p.S91fs	CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.S91fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.S91fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.S91fs			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	91	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGTGTACATTTTTGAAGTA	0.460													24	162	---	---	---	---					
TMEM41B	440026	broad.mit.edu	37	11	9304991	9304992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:9304991_9304992insT	ENST00000528080.1	-	7	1193_1194	c.855_856insA	c.(853-858)aataaafs	p.NK285fs		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	285						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TTCTGCTTTAGTTTTTTTTGGA	0.342													41	43	---	---	---	---					
MPEG1	219972	broad.mit.edu	37	11	58978660	58978660	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:58978660delC	ENST00000361050.3	-	1	1764	c.1679delG	c.(1678-1680)gcfs	p.G560fs		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	560						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTGGCTGAAGCCCCCGGGGCA	0.592													31	66	---	---	---	---					
MAP3K11	4296	broad.mit.edu	37	11	65375418	65375418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:65375418delG	ENST00000309100.3	-	3	1529	c.1044delC	c.(1042-1044)ccfs	p.P348fs	MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.P91fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	348	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGAAGGGCTCGGGGCAGGTGG	0.617													7	25	---	---	---	---					
SSH3	54961	broad.mit.edu	37	11	67077586	67077587	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:67077586_67077587insA	ENST00000308127.4	+	13	1637_1638	c.1459_1460insA	c.(1459-1461)gcafs	p.A487fs	SSH3_ENST00000376757.5_Intron|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	487					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)			CTCCCCAGAGGAGCACCCAGCC	0.629													37	61	---	---	---	---					
MED17	9440	broad.mit.edu	37	11	93517824	93517825	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:93517824_93517825delTT	ENST00000251871.3	+	1	432_433	c.145_146delTT	c.(145-147)cfs	p.F49fs	MED17_ENST00000530819.1_Frame_Shift_Del_p.F49fs	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	49					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCGGATAGACTTCAGCCAGGGT	0.703													3	3	---	---	---	---					
AMOTL1	154810	broad.mit.edu	37	11	94533350	94533351	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:94533350_94533351insT	ENST00000433060.2	+	3	1135_1136	c.994_995insT	c.(994-996)tttfs	p.F332fs	AMOTL1_ENST00000317837.9_Frame_Shift_Ins_p.F332fs|AMOTL1_ENST00000317829.8_Frame_Shift_Ins_p.F282fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	332						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGAGCACGGACTTTTTTATGGT	0.589													39	127	---	---	---	---					
APOA4	337	broad.mit.edu	37	11	116692031	116692033	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:116692031_116692033delTTC	ENST00000357780.3	-	3	855_857	c.741_743delGAA	c.(739-744)aac>aa	p.KN247del		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTCCTCGGCGTTCTTCTTCATCT	0.655													38	64	---	---	---	---					
OR8B4	283162	broad.mit.edu	37	11	124294014	124294015	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr11:124294014_124294015insA	ENST00000356130.3	-	1	774_775	c.753_754insT	c.(751-756)ttggtcfs	p.LV251fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTCCCTGACCCAAAAAACAGAG	0.450													30	11	---	---	---	---					
RP11-885B4.1	0	broad.mit.edu	37	12	2851938	2851938	+	RNA	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:2851938delT	ENST00000540093.1	-	0	73																											AGTTGGTACCTTTTTGGGTGA	0.468													3	6	---	---	---	---					
PIANP	196500	broad.mit.edu	37	12	6806838	6806839	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:6806838_6806839insG	ENST00000534837.1	-	3	366_367	c.137_138insC	c.(136-138)ctgfs	p.L46fs	PIANP_ENST00000320591.5_Frame_Shift_Ins_p.L46fs|PIANP_ENST00000540656.1_Frame_Shift_Ins_p.L46fs	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		CCCTGGCACACGGGGGGCGGGC	0.693													3	4	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950769	27950769	+	Frame_Shift_Del	DEL	G	G	-	rs145908611	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:27950769delG	ENST00000381271.2	+	3	1499	c.1188delG	c.(1186-1188)gtfs	p.V396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		TCTACATCGTGGGGGGGTGTC	0.592													48	206	---	---	---	---					
NCKAP5L	57701	broad.mit.edu	37	12	50189460	50189461	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:50189460_50189461insC	ENST00000335999.6	-	8	2383_2384	c.2182_2183insG	c.(2182-2184)agtfs	p.S728fs		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	724										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAAGGCCACTGCCCCCCGTATC	0.653													7	21	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049362	70049362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:70049362delG	ENST00000330891.5	-	10	1558	c.1332delC	c.(1330-1332)ccfs	p.P444fs	BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGGCCCTGGGGGGGTTTC	0.592													46	70	---	---	---	---					
KDM2B	84678	broad.mit.edu	37	12	121947745	121947747	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:121947745_121947747delCTC	ENST00000377069.4	-	11	1583_1585	c.1177_1179delGAG	c.(1177-1179)del	p.E393del	KDM2B_ENST00000538046.2_In_Frame_Del_p.E334del|KDM2B_ENST00000377071.4_In_Frame_Del_p.E424del|KDM2B_ENST00000536437.1_In_Frame_Del_p.E307del	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	424					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						cctcgtccttctcctcctcctcc	0.650													16	35	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132522263	132522264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr12:132522263_132522264insA	ENST00000333577.4	+	32	6205_6206	c.6096_6097insA	c.(6094-6099)ttaaaafs	p.LK2032fs	EP400_ENST00000332482.4_Frame_Shift_Ins_p.LK1959fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.LK1995fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.LK1996fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.LK1915fs			Q96L91	EP400_HUMAN	E1A binding protein p400	2032	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.N1997fs*4(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAAATTGTTGAAAAATGGAAC	0.436													10	130	---	---	---	---					
IFT88	8100	broad.mit.edu	37	13	21205180	21205180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:21205180delA	ENST00000382778.4	+	17	2470	c.1352delA	c.(1351-1353)gafs	p.E451fs	IFT88_ENST00000319980.6_Frame_Shift_Del_p.E451fs|IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	451					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGTGTTGGAAAAAAAGGAC	0.363													101	39	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25541679	25541679	+	RNA	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:25541679delT	ENST00000429698.1	-	0	282																											TTGAtttttcttttttttgag	0.393													7	3	---	---	---	---					
STARD13	90627	broad.mit.edu	37	13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-	rs34251901	byFrequency	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)ccfs	p.P963fs	STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	17	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													4	8	---	---	---	---					
FAM154B	283726	broad.mit.edu	37	15	82564107	82564107	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:82564107delA	ENST00000339465.5	+	2	286	c.217delA	c.(217-219)aafs	p.K74fs	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Frame_Shift_Del_p.K59fs|FAM154B_ENST00000565432.1_Frame_Shift_Del_p.K87fs	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	74										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAGACAAGTTAAAAAAGGAAA	0.393													21	73	---	---	---	---					
ACAN	176	broad.mit.edu	37	15	89381922	89381922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:89381922delC	ENST00000439576.2	+	3	473	c.99delC	c.(97-99)atfs	p.I33fs	ACAN_ENST00000558207.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000559004.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000561243.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000352105.7_Frame_Shift_Del_p.I33fs	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	33					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGTCAGCATCCCCCAACCGT	0.617													22	96	---	---	---	---					
UNC45A	55898	broad.mit.edu	37	15	91479199	91479200	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr15:91479199_91479200delAG	ENST00000394275.2	+	6	1027_1028	c.192_193delAG	c.(190-195)acagfs	p.TE64fs	UNC45A_ENST00000418476.2_Frame_Shift_Del_p.TE79fs|UNC45A_ENST00000553671.2_3'UTR	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	79					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AAGCAGAAACAGAGGCATCCAA	0.564													32	38	---	---	---	---					
ALG1	56052	broad.mit.edu	37	16	5125391	5125391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:5125391delC	ENST00000588623.1	+	5	1160	c.60delC	c.(58-60)aafs	p.N20fs	ALG1_ENST00000262374.5_Frame_Shift_Del_p.N131fs|ALG1_ENST00000544428.1_Frame_Shift_Del_p.N20fs			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	131					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TTTCCTAGAACCCCCCAGGTC	0.493													33	264	---	---	---	---					
FAM86A	196483	broad.mit.edu	37	16	5140283	5140283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:5140283delG	ENST00000427587.4	-	6	612	c.544delC	c.(544-546)ggfs	p.R182fs	FAM86A_ENST00000458008.4_Frame_Shift_Del_p.R148fs|FAM86A_ENST00000587133.1_Frame_Shift_Del_p.R121fs	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	182										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						ATGTATGCCCGGGGGCGGCAC	0.602													7	107	---	---	---	---					
FOPNL	123811	broad.mit.edu	37	16	15978038	15978038	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:15978038delT	ENST00000255759.6	-	2	82	c.53delA	c.(52-54)agfs	p.K18fs	FOPNL_ENST00000575073.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000573396.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000573968.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000573429.1_Frame_Shift_Del_p.K18fs	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	18	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						TAATACCCCCTTTTTTTCCAA	0.373													24	175	---	---	---	---					
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													3	4	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:28847350delG	ENST00000336783.4	+	22	3159	c.2992delG	c.(2992-2994)ggfs	p.G999fs	ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1005fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G999fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G999fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	999						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAGAGTCATGGGGGGCCCCC	0.682													10	118	---	---	---	---					
ZNF267	10308	broad.mit.edu	37	16	31927006	31927008	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:31927006_31927008delTTA	ENST00000300870.10	+	4	1645_1647	c.1436_1438delTTA	c.(1435-1440)ctt>c	p.LI479del	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	479					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCTTCAAATCTTATTATGCATCA	0.360													62	54	---	---	---	---					
SLC6A10P	386757	broad.mit.edu	37	16	32890716	32890716	+	RNA	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:32890716delC	ENST00000330048.5	-	0	3129					NR_003083.2																						ccccgccccgccccccccacc	0.612													2	4	---	---	---	---					
CDH8	1006	broad.mit.edu	37	16	61935344	61935344	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:61935344delT	ENST00000577390.1	-	3	1240	c.286delA	c.(286-288)tcfs	p.I96fs	CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATATACTTGATTTTTTTGCTC	0.373													7	185	---	---	---	---					
AC012322.1	0	broad.mit.edu	37	16	64294940	64294940	+	RNA	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr16:64294940delT	ENST00000561657.1	-	0	584																											ATTTTCTTTCTTTTTTTTTAA	0.398													11	45	---	---	---	---					
ATP1B2	482	broad.mit.edu	37	17	7556715	7556716	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:7556715_7556716insT	ENST00000250111.4	+	2	543_544	c.136_137insT	c.(136-138)tttfs	p.F46fs		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	46					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTTCTACCTCGTTTTTTATGGG	0.559													17	150	---	---	---	---					
ZNF18	7566	broad.mit.edu	37	17	11881757	11881759	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:11881757_11881759delCTC	ENST00000322748.3	-	9	1769_1771	c.1165_1167delGAG	c.(1165-1167)del	p.E389del	ZNF18_ENST00000454073.3_In_Frame_Del_p.E388del|ZNF18_ENST00000580306.1_In_Frame_Del_p.E389del|ZNF18_ENST00000580613.1_Intron	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	389					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCTCTCTCTTCTCCTCAAGCCAC	0.522													62	99	---	---	---	---					
MPRIP	23164	broad.mit.edu	37	17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:17046886delC	ENST00000395811.5	+	9	1141	c.1052delC	c.(1051-1053)gcfs	p.A351fs	MPRIP_ENST00000395804.3_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000341712.4_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000444976.1_Intron	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACCAATGAAGCCCCCCCAGCT	0.652													15	19	---	---	---	---					
C17orf102	400591	broad.mit.edu	37	17	32906089	32906090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:32906089_32906090insC	ENST00000357754.1	-	1	298_299	c.210_211insG	c.(208-213)ggacccfs	p.P71fs		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	71										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GGGGTAGGGTGCCCCCTACCCG	0.683													66	123	---	---	---	---					
DUSP14	11072	broad.mit.edu	37	17	35872691	35872691	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:35872691delC	ENST00000487847.1	+	2	1295	c.317delC	c.(316-318)gcfs	p.A106fs	DUSP14_ENST00000394386.1_Frame_Shift_Del_p.A106fs|DUSP14_ENST00000394389.4_Frame_Shift_Del_p.A106fs			O95147	DUS14_HUMAN	dual specificity phosphatase 14	106	Tyrosine-protein phosphatase.						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				AAGCACGGGGCCACCTTGGTG	0.572													37	51	---	---	---	---					
RP11-259G18.1	0	broad.mit.edu	37	17	44344810	44344812	+	RNA	DEL	TCT	TCT	-	rs2732649	by1000genomes	TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:44344810_44344812delTCT	ENST00000570002.2	+	0	408_410																											ACCCCCGACGTCTTCTTCTTCCG	0.567													10	71	---	---	---	---					
SGCA	6442	broad.mit.edu	37	17	48245065	48245066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:48245065_48245066insC	ENST00000262018.3	+	3	316_317	c.280_281insC	c.(280-282)cccfs	p.P94fs	SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.P94fs|SGCA_ENST00000451235.2_Intron|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.P94fs	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	94					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CGGCTCTGCCACCCCAGAAGAT	0.653													13	21	---	---	---	---					
RPS6KB1	6198	broad.mit.edu	37	17	57970583	57970583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:57970583delC	ENST00000225577.4	+	1	59	c.38delC	c.(37-39)gcfs	p.A13fs	RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.A13fs|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.A13fs	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	13					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TTTTACCCAGCCCCGGACTTC	0.657													9	17	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465981	59465981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:59465981delA	ENST00000589222.1	+	25	2730	c.2662delA	c.(2662-2664)aafs	p.K890fs	RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585744.1_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCAAAAGGGAAAAAAAAAGG	0.443													5	3	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433													4	7	---	---	---	---					
UNC13D	201294	broad.mit.edu	37	17	73830723	73830725	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:73830723_73830725delCTT	ENST00000207549.4	-	22	2444_2446	c.2065_2067delAAG	c.(2065-2067)del	p.K689del	UNC13D_ENST00000412096.2_In_Frame_Del_p.K689del	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	689					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCTTGGTCCTTCTGGCCTGAA	0.631									Familial Hemophagocytic Lymphohistiocytosis				11	57	---	---	---	---					
UNC13D	201294	broad.mit.edu	37	17	73836377	73836377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:73836377delG	ENST00000207549.4	-	10	1166	c.787delC	c.(787-789)tgfs	p.L263fs	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Frame_Shift_Del_p.L263fs	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	263	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGGTTCCAGGGGGTACCAC	0.652									Familial Hemophagocytic Lymphohistiocytosis				8	52	---	---	---	---					
DUS1L	64118	broad.mit.edu	37	17	80019231	80019232	+	Splice_Site	DEL	TG	TG	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr17:80019231_80019232delTG	ENST00000354321.7	-	7	1183		c.e7-2		DUS1L_ENST00000306796.5_Splice_Site			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)						tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGTTGCCCTCTGTGGGAGGAGG	0.663													22	33	---	---	---	---					
SLC39A6	25800	broad.mit.edu	37	18	33706880	33706880	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:33706880delG	ENST00000269187.5	-	2	304	c.91delC	c.(91-93)agfs	p.Q31fs	SLC39A6_ENST00000590986.1_Frame_Shift_Del_p.Q31fs|SLC39A6_ENST00000440549.2_Intron	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	31						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCAGTGGTCTGGGGGAAAGCA	0.453													27	95	---	---	---	---					
ZBTB7C	201501	broad.mit.edu	37	18	45566519	45566519	+	Frame_Shift_Del	DEL	C	C	-	rs113275715		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:45566519delC	ENST00000588982.1	-	3	1461	c.960delG	c.(958-960)ggfs	p.G320fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.G320fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	320	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTCCCAGAGGCCCCCCCGGCA	0.627													47	51	---	---	---	---					
CTIF	9811	broad.mit.edu	37	18	46284307	46284308	+	Frame_Shift_Ins	INS	-	-	G	rs111264927		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:46284307_46284308insG	ENST00000256413.3	+	8	897_898	c.602_603insG	c.(601-603)cggfs	p.R201fs	CTIF_ENST00000382998.4_Frame_Shift_Ins_p.R201fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	201	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.P153L(1)|p.P201L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAGAGACCTCCGGGGGGCAACA	0.629													7	187	---	---	---	---					
RTTN	25914	broad.mit.edu	37	18	67869207	67869207	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:67869207delT	ENST00000255674.6	-	4	696	c.410delA	c.(409-411)acfs	p.N137fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.N137fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.N137fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	137							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATTTCAGGGTTTTTTGACAA	0.358													10	44	---	---	---	---					
ZNF516	9658	broad.mit.edu	37	18	74091541	74091541	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr18:74091541delC	ENST00000443185.2	-	4	2846	c.2529delG	c.(2527-2529)ggfs	p.G843fs	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACCCCGGCATCCCCCCTGGCA	0.637													37	83	---	---	---	---					
NMRK2	27231	broad.mit.edu	37	19	3942174	3942174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:3942174delC	ENST00000168977.2	+	8	886	c.596delC	c.(595-597)gcfs	p.A199fs	NMRK2_ENST00000599576.1_3'UTR|NMRK2_ENST00000593949.1_Frame_Shift_Del_p.A204fs	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		CAGGAATCAGCCCCCTCCCCG	0.637													37	42	---	---	---	---					
KHSRP	8570	broad.mit.edu	37	19	6415897	6415898	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:6415897_6415898insC	ENST00000398148.3	-	16	1700_1701	c.1608_1609insG	c.(1606-1611)ggccccfs	p.GP536fs		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	536	Ala/Gly/Pro-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGAGGAGGGGGCCCCCCGGCAC	0.663													5	11	---	---	---	---					
ECSIT	51295	broad.mit.edu	37	19	11618561	11618562	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:11618561_11618562delAC	ENST00000270517.7	-	6	1035_1036	c.900_901delGT	c.(898-903)gtatfs	p.VY300fs	ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.VY86fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.C231fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	300					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGTAATACACACACTTGT	0.619													19	70	---	---	---	---					
AKAP8	10270	broad.mit.edu	37	19	15483732	15483733	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:15483732_15483733insC	ENST00000269701.2	-	5	850_851	c.790_791insG	c.(790-792)gggfs	p.G264fs		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	264					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ATAGCCGCCCGCCCCCTGCATG	0.708													7	16	---	---	---	---					
ZNF492	57615	broad.mit.edu	37	19	22846645	22846646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:22846645_22846646insA	ENST00000456783.2	+	4	418_419	c.174_175insA	c.(172-177)ggaaaafs	p.GK58fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAGCAGGGCAAAAAAAATTA	0.302													18	14	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38886608	38886608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:38886608delC	ENST00000587013.1	+	5	1266	c.1188delC	c.(1186-1188)gafs	p.D396fs	SPRED3_ENST00000338502.4_Frame_Shift_Del_p.D352fs|SPRED3_ENST00000586301.1_Frame_Shift_Del_p.D352fs			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	352	SPR.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTTCTCGGACCCGTGCGCCT	0.761													2	4	---	---	---	---					
HNRNPL	3191	broad.mit.edu	37	19	39330917	39330917	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:39330917delC	ENST00000221419.5	-	8	1418	c.1052delG	c.(1051-1053)gtfs	p.G351fs	HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.G218fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	351	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCGACGGTGACCCCCCACTGG	0.692													4	6	---	---	---	---					
ZNF223	7766	broad.mit.edu	37	19	44571320	44571321	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:44571320_44571321insA	ENST00000591793.1	+	7	1752_1753	c.1669_1670insA	c.(1669-1671)aaafs	p.K557fs	ZNF223_ENST00000434772.3_Frame_Shift_Ins_p.K447fs			Q9UK11	ZN223_HUMAN	zinc finger protein 223	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TAAAGACCAACAAAAAAACCAC	0.356													44	134	---	---	---	---					
FBXO46	23403	broad.mit.edu	37	19	46215882	46215882	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:46215882delG	ENST00000317683.3	-	2	1005	c.872delC	c.(871-873)ctfs	p.P291fs		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	291							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGGGCTGCCAGGGTAGGCACA	0.682													29	33	---	---	---	---					
ZNF432	9668	broad.mit.edu	37	19	52538321	52538321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr19:52538321delT	ENST00000594154.1	-	5	823	c.611delA	c.(610-612)acfs	p.N204fs	ZNF432_ENST00000221315.5_Frame_Shift_Del_p.N204fs			O94892	ZN432_HUMAN	zinc finger protein 432	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCATACGTGGTTTTTTTCTAT	0.383													79	136	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128920	3128921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:3128920_3128921insA	ENST00000380266.3	-	2	1117_1118	c.796_797insT	c.(796-798)tagfs	p.*266fs	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	266					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGATAACTAGAAAAAATGTTT	0.401													8	148	---	---	---	---					
RPRD1B	58490	broad.mit.edu	37	20	36676874	36676874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:36676874delC	ENST00000373433.4	+	3	808	c.406delC	c.(406-408)ccfs	p.P137fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	137										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CAAGAGCCCTCCCCCCAAAGG	0.473													17	122	---	---	---	---					
TNFRSF6B	8771	broad.mit.edu	37	20	62328715	62328715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr20:62328715delC	ENST00000369996.1	+	2	559	c.459delC	c.(457-459)tgfs	p.C153fs	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	153					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GCCAGCCGTGCCCCCCAGGCA	0.667													13	25	---	---	---	---					
KLHDC7B	113730	broad.mit.edu	37	22	50988067	50988068	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:50988067_50988068insG	ENST00000395676.2	+	1	1606_1607	c.1472_1473insG	c.(1471-1473)cggfs	p.R491fs		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	491										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCGTGGCACTGGGGGGCTTCC	0.668													23	92	---	---	---	---					
SHANK3	85358	broad.mit.edu	37	22	51159932	51159933	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chr22:51159932_51159933insG	ENST00000414786.2	+	21	3856_3857	c.3629_3630insG	c.(3628-3630)cggfs	p.R1210fs	SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.R1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.R1240fs			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1240										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCCAGCAGGCTGGGGGGGGCCG	0.718													5	5	---	---	---	---					
UBQLN2	29978	broad.mit.edu	37	X	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:56591874delC	ENST00000338222.5	+	1	1849	c.1568delC	c.(1567-1569)gcfs	p.A523fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding	p.P525fs*71(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGCCCTGCAGCCCCCCCTGGC	0.642													8	10	---	---	---	---					
FAM133A	286499	broad.mit.edu	37	X	92964568	92964569	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:92964568_92964569insA	ENST00000538690.1	+	5	711_712	c.150_151insA	c.(148-153)aaaaaafs	p.KK50fs	FAM133A_ENST00000355813.5_Frame_Shift_Ins_p.KK50fs|FAM133A_ENST00000332647.4_Frame_Shift_Ins_p.KK50fs|FAM133A_ENST00000322139.4_Frame_Shift_Ins_p.KK50fs	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	50	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AATTAGAAAATAAAAAAACAGG	0.351													15	17	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-	rs137862942		TCGA-QK-A6VB-01A-12D-A34J-08	TCGA-QK-A6VB-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d3e8e37-d49f-4dce-8b48-859889667bb8	098daccc-81da-4cb8-a095-4d192a4729f7	g.chrX:129190011delC	ENST00000540052.1	+	12	5080	c.5036delC	c.(5035-5037)tcfs	p.S1679fs	BCORL1_ENST00000303743.5_Frame_Shift_Del_p.S1753fs|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.S1679fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.S1549fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACGACAGATCCCCCCCAGGC	0.602													48	11	---	---	---	---					
