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
WNT10B	7480	broad.mit.edu	37	12	49359916	49359916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:49359916C>A	ENST00000301061.4	-	5	1480	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	378					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						ACCTTGCACTCATCACACAGC	0.592000													6	25					2.0095e-06	2.09047e-06	1	1	0
SLFN11	91607	broad.mit.edu	37	17	33690124	33690124	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:33690124C>T	ENST00000394566.1	-	4	975	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	SLFN11_ENST00000308377.4_Missense_Mutation_p.V235I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	235						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATGCAGGGACGTATTCTGGA	0.403000													22	131					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646602	57646602	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:57646602C>T	ENST00000269834.1	-	5	1488	c.1103G>A	c.(1102-1104)tGt>tAt	p.C368Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTATTTCCACATAGATCACA	0.368000													14	121					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47702925	47702925	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:47702925C>T	ENST00000254480.5	-	21	2298	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	727					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGTACCTCCTCCCGGACCCGA	0.473000													14	66					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153549220	153549220	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:153549220C>T	ENST00000369915.3	+	8	1335	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	TKTL1_ENST00000217905.7_Silent_p.S122S|TKTL1_ENST00000369912.2_Silent_p.S326S	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	382					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					TCGCTGAGAGCAACATCAACA	0.498000													32	33					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031690	79031690	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:79031690A>G	ENST00000446378.2	+	2	7133	c.7102A>G	c.(7102-7104)Agt>Ggt	p.S2368G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2368						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAGCCAAGAAGTGATCAAAA	0.368000													10	29					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57440388	57440388	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:57440388C>A	ENST00000442789.2	-	9	875	c.588G>T	c.(586-588)agG>agT	p.R196S	MYO1A_ENST00000300119.3_Missense_Mutation_p.R196S|MYO1A_ENST00000544473.1_Missense_Mutation_p.R34S	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	196	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTGGAAGTTCCTTTCTCCTT	0.478000													49	61					7.47603e-22	8.49277e-22	1	1	0
TTC29	83894	broad.mit.edu	37	4	147724741	147724741	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:147724741A>G	ENST00000513335.1	-	12	1475	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H	TTC29_ENST00000325106.4_Missense_Mutation_p.Y400H|TTC29_ENST00000506019.1_5'UTR|TTC29_ENST00000398886.4_Missense_Mutation_p.Y426H			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	400							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCTATTCCATAGTGAACTTTT	0.423000													5	9					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84028143	84028143	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:84028143C>T	ENST00000280241.8	-	1	45	c.46G>A	c.(46-48)Gat>Aat	p.D16N	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.D16N|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCATCCCATCGGACCCCCGG	0.572000													49	152					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42638415	42638415	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:42638415G>A	ENST00000372899.1	+	36	4306	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.E1350K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1350					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTGAGTGATGAAGATAAACC	0.313000													10	92					0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1034822	1034822	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:1034822C>T	ENST00000293894.3	+	3	892	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	259					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GCCAGAACATCGACTTCAGCA	0.682000													8	18					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130066490	130066490	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:130066490G>A	ENST00000278742.5	+	11	1667	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	417	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTCCCAGTTCGTCGTCACCAG	0.617000													3	18					0	0	1	0	0
RNF114	55905	broad.mit.edu	37	20	48568643	48568643	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:48568643A>G	ENST00000244061.2	+	6	654	c.652A>G	c.(652-654)Aat>Gat	p.N218D		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	218					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						GGACATGATGAATCAGGTGTT	0.443000													7	65					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153709296	153709296	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:153709296G>A	ENST00000297107.6	+	4	703	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.R189Q|GALNT10_ENST00000425427.2_Missense_Mutation_p.R189Q	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	189	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TTCAGTGATCGAGGTAGGATC	0.582000													3	23					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911796	88911796	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:88911796G>A	ENST00000263321.5	+	1	1177	c.675G>A	c.(673-675)ctG>ctA	p.L225L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	225					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCCAGAAGCTGACAGGAGATG	0.468000													18	230					0	0	1	0	0
POLR2G	5436	broad.mit.edu	37	11	62533726	62533726	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:62533726C>T	ENST00000301788.7	+	7	588	c.483C>T	c.(481-483)ggC>ggT	p.G161G		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	161					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						TTGCTATTGGCTCCCTGATGG	0.507000													30	107					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407266	55407266	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:55407266G>C	ENST00000341048.4	-	10	1460	c.1309C>G	c.(1309-1311)Ctc>Gtc	p.L437V	ANKRD55_ENST00000434982.2_Missense_Mutation_p.L149V|ANKRD55_ENST00000504958.2_Missense_Mutation_p.L394V	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	436										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATGGGTGGGAGACTCTGCGTT	0.507000													12	67					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110238531	110238531	+	Missense_Mutation	SNP	G	G	A	rs148041016		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:110238531G>A	ENST00000418703.2	-	4	839	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000537083.1_Missense_Mutation_p.R249C|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.R249C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R215C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R249C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	249					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						TGTTTGCAGCGACGCTCAATG	0.652000													6	46					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66518972	66518972	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:66518972C>A	ENST00000589228.1	+	3	381	c.253C>A	c.(253-255)Cct>Act	p.P85T	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.P85T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.P85T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.P85T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.P85T|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.P85T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	85	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GATTTCTCCTCCTCCACCCAA	0.493000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				19	28					1.55795e-14	1.73512e-14	1	1	0
TRIM69	140691	broad.mit.edu	37	15	45047418	45047418	+	Silent	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:45047418C>G	ENST00000559390.1	+	3	1255	c.327C>G	c.(325-327)ctC>ctG	p.L109L	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000329464.4_Silent_p.L109L|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558173.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	109	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TACCCTTACTCAAGGGCCATC	0.443000													8	89					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7883293	7883293	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:7883293C>T	ENST00000264668.2	+	6	917	c.887C>T	c.(886-888)tCa>tTa	p.S296L	MTRR_ENST00000440940.2_Missense_Mutation_p.S269L|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	296					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCTGTGACTTCAGCAGATCCA	0.373000													10	108					0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967386	39967386	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:39967386C>T	ENST00000355468.3	-	3	1079	c.613G>A	c.(613-615)Gag>Aag	p.E205K	LEPREL4_ENST00000393928.1_Missense_Mutation_p.E205K			Q92791	SC65_HUMAN	leprecan-like 4	205					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CACCCCACCTCGTAGGGCTGG	0.642000													79	105					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41814013	41814013	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:41814013C>T	ENST00000304330.4	-	21	3077	c.2961G>A	c.(2959-2961)ctG>ctA	p.L987L	RPAP1_ENST00000561603.1_Silent_p.L987L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	987	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCAGCCGGCTCAGCAGGGCCA	0.597000													7	17					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302331	31302331	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:31302331G>T	ENST00000265071.2	+	6	1190	c.925G>T	c.(925-927)Gac>Tac	p.D309Y	CDH6_ENST00000514738.1_Missense_Mutation_p.D254Y	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	309	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGCATCACAGACGGTGAGGG	0.468000													28	40					1.42536e-11	1.56596e-11	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47542436	47542436	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr21:47542436C>T	ENST00000300527.4	+	20	1703	c.1599C>T	c.(1597-1599)cgC>cgT	p.R533R	COL6A2_ENST00000409416.1_Silent_p.R533R|COL6A2_ENST00000397763.1_Silent_p.R533R|COL6A2_ENST00000310645.5_Silent_p.R533R|COL6A2_ENST00000357838.4_Silent_p.R533R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	533	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGCCCACGCGGCCCCGAGG	0.632000													3	23					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7798086	7798086	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:7798086C>T	ENST00000379562.4	-	13	1186	c.1139G>A	c.(1138-1140)aGa>aAa	p.R380K	KIN_ENST00000535925.1_Intron|KIN_ENST00000463666.1_5'UTR	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)		C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCCTTCAACTCTGCGTCCTTT	0.294000													10	70					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228400181	228400181	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:228400181G>A	ENST00000570156.2	+	2	771	c.697G>A	c.(697-699)Gag>Aag	p.E233K	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E233K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.E233K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	233					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TATGCGCGCCGAGGGCGCCCC	0.761000													6	2					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104067192	104067192	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:104067192C>T	ENST00000265148.3	-	30	4296	c.4207G>A	c.(4207-4209)Gtg>Atg	p.V1403M	CENPE_ENST00000380026.3_Missense_Mutation_p.V1378M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1403					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)		ATCTCACTCACGATTTTGGTA	0.353000													15	78					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155291600	155291600	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:155291600C>A	ENST00000368352.5	+	2	187	c.36C>A	c.(34-36)ctC>ctA	p.L12L	RUSC1_ENST00000368354.3_Silent_p.L12L|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	12						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTGCAACCTCAACCACATCC	0.592000													9	64					0.000673444	0.000689218	1	1	0
EPS15	2060	broad.mit.edu	37	1	51826914	51826914	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:51826914C>G	ENST00000371733.3	-	24	2569	c.2473G>C	c.(2473-2475)Gat>Cat	p.D825H	EPS15_ENST00000396122.4_Missense_Mutation_p.D502H|EPS15_ENST00000371730.2_Missense_Mutation_p.D691H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	825	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GTGAATGGATCACAAAATATT	0.418000			T	MLL	ALL								11	81					0	0	1	0	0
RAB32	10981	broad.mit.edu	37	6	146875732	146875732	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:146875732G>A	ENST00000367495.3	+	3	848	c.669G>A	c.(667-669)caG>caA	p.Q223Q		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	223					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		ACAAATCCCAGTGTTGCTGAT	0.428000													19	64					0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90937729	90937729	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:90937729T>C	ENST00000451899.2	+	6	1879	c.1619T>C	c.(1618-1620)gTt>gCt	p.V540A	OSGIN2_ENST00000297438.2_Missense_Mutation_p.V496A	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	496					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CATTTGTTTGTTGAAAGAGGA	0.383000													8	33					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41226847	41226847	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:41226847C>G	ENST00000216218.3	-	9	1276	c.795G>C	c.(793-795)caG>caC	p.Q265H		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	265							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						AATTTACCCTCTGGGCTCTCT	0.388000													24	54					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145140496	145140496	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:145140496C>A	ENST00000355091.4	+	11	1593	c.1472C>A	c.(1471-1473)cCa>cAa	p.P491Q	GPAA1_ENST00000361036.6_Missense_Mutation_p.P431Q	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	491					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACACAGGCCCCAGACAGGGGC	0.597000													7	63					1.6384e-10	1.79309e-10	1	1	0
TUBB4A	10382	broad.mit.edu	37	19	6496045	6496045	+	Silent	SNP	G	G	A	rs1053262		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:6496045G>A	ENST00000264071.2	-	4	836	c.465C>T	c.(463-465)atC>atT	p.I155I	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Silent_p.I155I			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	155			I -> M (in dbSNP:rs1053262).		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ACTCCTCGCGGATCTTACTGA	0.637000													26	50					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61666071	61666071	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:61666071C>T	ENST00000263102.6	-	1	343	c.112G>A	c.(112-114)Ggg>Agg	p.G38R		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	38	Poly-Gly.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		ccgcctcccccgccgccaccg	0.726000			T	RET	NSCLC								6	23					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203140596	203140596	+	Silent	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:203140596G>T	ENST00000255416.4	-	5	765	c.708C>A	c.(706-708)gcC>gcA	p.A236A		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	236	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CGGAGCGCTGGGCCGAGCGAA	0.642000													4	35					0.00909568	0.00917646	1	1	0
TAS2R14	50840	broad.mit.edu	37	12	11091682	11091682	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:11091682G>A	ENST00000537503.1	-	1	180	c.125C>T	c.(124-126)tCt>tTt	p.S42F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	42					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						ATCAACCGAAGAGATCTTTCT	0.388000													9	24					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33938626	33938626	+	Silent	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:33938626T>C	ENST00000389232.4	+	29	3910	c.3840T>C	c.(3838-3840)aaT>aaC	p.N1280N	RYR3_ENST00000415757.3_Silent_p.N1280N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1280	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCACACAGAATAGCAATGCCG	0.522000													70	126					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2930203	2930203	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:2930203C>T	ENST00000264758.7	+	15	2448	c.2260C>T	c.(2260-2262)Cgt>Tgt	p.R754C	ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398129.1_Missense_Mutation_p.R723C|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.R723C|ADD1_ENST00000513328.2_3'UTR	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	723					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAAGAAGTTCCGTACCCCGTC	0.612000													64	40					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988497	21988497	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:21988497G>A	ENST00000292779.3	+	3	420	c.259G>A	c.(259-261)Gag>Aag	p.E87K	CCDC116_ENST00000607942.1_Missense_Mutation_p.E87K	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	87										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGACAGCCTGGAGACAGTGGT	0.617000													6	63					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68696791	68696791	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:68696791C>T	ENST00000255078.3	+	8	1312	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	401	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCGGGCGATCACAAGCAGCT	0.632000													6	66					0	0	1	0	0
HES1	3280	broad.mit.edu	37	3	193854190	193854190	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:193854190G>C	ENST00000232424.3	+	1	257	c.21G>C	c.(19-21)gaG>gaC	p.E7D		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	7					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		ATATAATGGAGAAAAATTCCT	0.403000													8	16					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218478402	218478402	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:218478402C>T	ENST00000366932.3	+	3	468	c.438C>T	c.(436-438)tgC>tgT	p.C146C		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	146						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AAATGATGTGCAGAGTAAAGC	0.363000													7	82					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42678404	42678404	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:42678404T>C	ENST00000397163.3	+	3	638	c.419T>C	c.(418-420)cTg>cCg	p.L140P	CAPN3_ENST00000349748.3_Missense_Mutation_p.L140P|CAPN3_ENST00000357568.3_Missense_Mutation_p.L140P|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.L53P|CAPN3_ENST00000318023.7_Missense_Mutation_p.L140P	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	140	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGCCTGACCCTGAACCAGCAC	0.532000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	52					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678915	38678915	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr14:38678915C>A	ENST00000267377.2	+	3	938	c.321C>A	c.(319-321)ctC>ctA	p.L107L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	107					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGAGCTGCTCATGCTCAGCG	0.577000													19	147					2.39187e-15	2.67851e-15	1	1	0
ECT2L	345930	broad.mit.edu	37	6	139135700	139135700	+	Silent	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:139135700T>C	ENST00000423192.1	+	3	300	c.139T>C	c.(139-141)Tta>Cta	p.L47L	ECT2L_ENST00000367682.2_Silent_p.L47L|ECT2L_ENST00000541398.1_5'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	47					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAGAATTCTTATTCGCAAT	0.348000			"""N, Splice, Mis"""		ETP ALL								14	17					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008771	120008771	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:120008771C>G	ENST00000371311.3	-	1	1008	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	252										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ACGGCCTCCTCTGAGGTCGGT	0.697000													26	59					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544469	23544469	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:23544469C>G	ENST00000300619.7	-	4	1517	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	ZNF91_ENST00000397082.2_Missense_Mutation_p.E406Q|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	438						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTCACACTTG	0.338000													5	71					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60469274	60469274	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:60469274G>A	ENST00000450662.2	+	6	470	c.399G>A	c.(397-399)atG>atA	p.M133I	EFCAB3_ENST00000305286.3_Missense_Mutation_p.M81I	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	81							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGCTGGGAATGAATCTGACCA	0.393000													26	166					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17619207	17619207	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:17619207G>A	ENST00000336737.4	-	8	1001	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	CECR5_ENST00000155674.5_Missense_Mutation_p.H296Y|CECR5_ENST00000399852.3_Missense_Mutation_p.H126Y	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	326							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AGGTACTGGTGGAACAGGTTG	0.562000													21	57					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242214	26242214	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:26242214G>A	ENST00000335473.7	+	19	3766	c.3516G>A	c.(3514-3516)agG>agA	p.R1172R	MYO18B_ENST00000536101.1_Silent_p.R1172R|MYO18B_ENST00000407587.2_Silent_p.R1173R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1172	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGCGGTGAGGAGGAAAGCCC	0.652000													8	19					0	0	1	0	0
TAF11	6882	broad.mit.edu	37	6	34855709	34855709	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:34855709G>C	ENST00000361288.4	-	1	157	c.26C>G	c.(25-27)tCc>tGc	p.S9C	TAF11_ENST00000420584.2_Missense_Mutation_p.S9C	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	9					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						ACCTTTGTCGGAGGGCGACTC	0.637000													13	100					0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622897	29622897	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:29622897G>C	ENST00000247271.4	-	2	714	c.453C>G	c.(451-453)ctC>ctG	p.L151L	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	151					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TACTGAGGTTGAGAACCTCGA	0.378000													43	183					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25315749	25315749	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:25315749G>A	ENST00000302874.4	+	2	233	c.209G>A	c.(208-210)aGa>aAa	p.R70K	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	70							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TGTAGAGATAGAAAAGACTGT	0.348000													33	91					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9764498	9764498	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:9764498C>A	ENST00000262441.5	+	8	1481	c.968C>A	c.(967-969)gCa>gAa	p.A323E	GLP2R_ENST00000574745.1_Missense_Mutation_p.A143E	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	323					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTCGCCCGTGCACACCTGGAG	0.483000													44	34					2.00842e-17	2.26346e-17	1	1	0
ATG3	64422	broad.mit.edu	37	3	112256710	112256710	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:112256710C>T	ENST00000402314.2	-	9	925	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.E180K	NM_001278712.1	NP_001265641.1	Q9NT62	ATG3_HUMAN	autophagy related 3	180					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TTACAAGCTTCTACTATTTTC	0.328000													4	45					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816774	43816774	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:43816774C>G	ENST00000377564.3	+	6	1273	c.880C>G	c.(880-882)Cat>Gat	p.H294D	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.H294D	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	294	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						ACACACTCATCATTTCCAAGC	0.433000													15	87					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152093	158152093	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:158152093G>C	ENST00000368171.3	+	4	1099	c.600G>C	c.(598-600)aaG>aaC	p.K200N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	200	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CGGAACTGAAGAAGCAAGGTC	0.532000													12	60					0	0	1	0	0
C12orf49	79794	broad.mit.edu	37	12	117158195	117158195	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:117158195G>A	ENST00000261318.3	-	3	486	c.326C>T	c.(325-327)cCt>cTt	p.P109L	C12orf49_ENST00000536380.1_Missense_Mutation_p.P79L	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	109	Cys-rich.					extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		CTTCGTGCTAGGGACGTTGAC	0.537000													18	165					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52972119	52972119	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr13:52972119C>A	ENST00000349258.4	-	3	813	c.269G>T	c.(268-270)tGc>tTc	p.C90F	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.C90F	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	90						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAAATAGAAGCACTCAAACTT	0.488000													11	68					0.000978159	0.000997476	1	1	0
CHAF1A	10036	broad.mit.edu	37	19	4431949	4431949	+	Splice_Site	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:4431949G>C	ENST00000301280.5	+	12	2049	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	650	Necessary for homodimerization and competence for chromatin assembly.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACCACAAGGAGTGTGCCGA	0.567000								Chromatin Structure					11	50					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64522183	64522183	+	Silent	SNP	G	G	A	rs146289842		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:64522183G>A	ENST00000164139.3	-	8	1379	c.981C>T	c.(979-981)ttC>ttT	p.F327F	PYGM_ENST00000377432.3_Silent_p.F239F	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	327					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)	GGAAGGCATCGAAGTTCGTGC	0.602000													10	10					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109411092	109411092	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:109411092C>G	ENST00000295124.4	+	5	551	c.491C>G	c.(490-492)tCt>tGt	p.S164C	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.S164C	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	164										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TGTCCAAAATCTAAAGCATCA	0.423000													32	25					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149008431	149008431	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:149008431G>C	ENST00000333677.6	+	12	1883	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	574					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCCCAGTGCAGAGGAGCTCAG	0.597000													11	19					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62865265	62865265	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:62865265G>A	ENST00000584306.1	-	8	3456	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L	LRRC37A3_ENST00000400877.3_Silent_p.L14L|LRRC37A3_ENST00000319651.5_Silent_p.L976L|LRRC37A3_ENST00000339474.5_Silent_p.L94L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	976						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACAGTTGTCAGAGGATTGTGA	0.299000													82	166					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823129	97823129	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:97823129G>C	ENST00000297293.5	+	11	3645	c.3352G>C	c.(3352-3354)Gag>Cag	p.E1118Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1118					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAAAAGGTCTGAGGAGGTCCC	0.597000													5	51					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227171508	227171508	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:227171508C>T	ENST00000366779.1	+	15	3980	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	ADCK3_ENST00000366777.3_Silent_p.A403A|ADCK3_ENST00000458507.2_Silent_p.A124A|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Silent_p.A77A|ADCK3_ENST00000366778.1_Silent_p.A351A			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	403	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGGAGCTGGCCCTGGAGTGTG	0.697000													5	29					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368417	183368417	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:183368417C>G	ENST00000454652.2	+	4	659	c.273C>G	c.(271-273)ttC>ttG	p.F91L	KLHL24_ENST00000476808.1_Missense_Mutation_p.F91L|KLHL24_ENST00000242810.6_Missense_Mutation_p.F91L	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24		BTB.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAGCTACTTCAGAGCTATGT	0.398000													24	160					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873536	64873536	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:64873536G>C	ENST00000533854.1	+	2	323	c.86G>C	c.(85-87)aGc>aCc	p.S29T	CACNG5_ENST00000169565.3_Missense_Mutation_p.S29T|CACNG5_ENST00000307139.3_Missense_Mutation_p.S29T			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	29					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATCGCGGTCAGCACCGACTAC	0.617000													17	45					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65993436	65993436	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:65993436T>C	ENST00000443035.3	-	19	2869	c.2654A>G	c.(2653-2655)aAa>aGa	p.K885R	DENND4A_ENST00000431932.2_Missense_Mutation_p.K885R	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAAAGCTCTTTTGAACTGTGT	0.358000													12	52					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781382	135781382	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:135781382C>T	ENST00000298552.3	-	15	1804	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D	TSC1_ENST00000440111.2_Missense_Mutation_p.G528D|TSC1_ENST00000545250.1_Missense_Mutation_p.G477D	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	528					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CACGCTGGCGCCCTGAGAACT	0.592000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				20	17					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129822642	129822642	+	RNA	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:129822642C>G	ENST00000500074.2	-	0	389																											TCGCTACATCCCAGTCCAGCT	0.577000													6	16					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600857	161600857	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:161600857G>C	ENST00000294800.3	-	1	301	c.28C>G	c.(28-30)Ctg>Gtg	p.L10V	FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3A_ENST00000540048.1_Missense_Mutation_p.L10V|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L46V|FCGR3B_ENST00000367964.2_Missense_Mutation_p.L10V	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	10					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGAAGTAGCAGAGCAGTTGGG	0.532000													4	36					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160559	2160559	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:2160559C>T	ENST00000262304.4	-	15	4817	c.4609G>A	c.(4609-4611)Gag>Aag	p.E1537K	PKD1_ENST00000423118.1_Missense_Mutation_p.E1537K	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1537	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCAGGCCTCGCTGCGGCTC	0.657000													8	39					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100483913	100483913	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:100483913C>T	ENST00000388793.4	+	13	1721	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	SRRT_ENST00000432932.1_Missense_Mutation_p.R501W|SRRT_ENST00000457580.2_Missense_Mutation_p.R502W|SRRT_ENST00000347433.4_Missense_Mutation_p.R502W	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	502					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACCTGACCCGGCGCGTTCG	0.597000													6	53					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118245802	118245802	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:118245802G>C	ENST00000252108.3	+	9	1439	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	UBE4A_ENST00000431736.2_Silent_p.L443L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	436					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTTTCTTTCTGAATCTGGGTG	0.478000													12	56					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110734518	110734518	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:110734518C>G	ENST00000395494.2	+	5	1002	c.439C>G	c.(439-441)Cct>Gct	p.P147A	ATP2A2_ENST00000308664.6_Missense_Mutation_p.P147A|ATP2A2_ENST00000539276.2_Missense_Mutation_p.P147A|ATP2A2_ENST00000550248.2_3'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	147					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGACATAGTTCCTGGTGATAT	0.378000													34	55					0	0	1	0	0
PPP1CA	5499	broad.mit.edu	37	11	67168209	67168209	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:67168209C>T	ENST00000376745.4	-	3	517	c.369G>A	c.(367-369)ggG>ggA	p.G123G	PPP1CA_ENST00000312989.7_Silent_p.G134G|PPP1CA_ENST00000358239.4_Silent_p.G79G|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	123					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACTCGTGGTTCCCACGGAGCA	0.572000													12	65					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125281920	125281920	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:125281920C>A	ENST00000431078.1	+	9	1729	c.1365C>A	c.(1363-1365)atC>atA	p.I455I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	455	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGGTTAGCATCAACGCCAGGA	0.512000													9	26					7.48243e-07	7.85586e-07	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49436429	49436429	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:49436429C>G	ENST00000301067.7	-	27	5782		c.e27-1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGAGTCCACCTACAAGACGG	0.552000													15	27					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120135563	120135563	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:120135563G>A	ENST00000392521.2	-	46	5838	c.5783C>T	c.(5782-5784)gCg>gTg	p.A1928V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A1886V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1886					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTATGAGGACGCCAAGTAAAT	0.607000													7	90					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42148546	42148546	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:42148546C>T	ENST00000269097.4	+	1	444	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	71					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACCTCATCTTCAAGTGGTGAG	0.602000													4	42					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228527734	228527734	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:228527734G>T	ENST00000570156.2	+	81	20292	c.20218G>T	c.(20218-20220)Gag>Tag	p.E6740*	OBSCN_ENST00000422127.1_Nonsense_Mutation_p.E5783*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E5783*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.E3417*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.E2902*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5783					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAGTACCTGGAGTTCCTGGT	0.602000													6	42					3.59834e-05	3.70936e-05	1	1	0
SLC35G3	146861	broad.mit.edu	37	17	33520604	33520604	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:33520604C>A	ENST00000297307.5	-	1	808	c.723G>T	c.(721-723)ctG>ctT	p.L241L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	241						integral to membrane											CGGGGGCCTGCAGCACAAAGA	0.612000													5	98					0.184627	0.184627	1	1	0
SLC30A9	10463	broad.mit.edu	37	4	42051474	42051474	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:42051474C>G	ENST00000264451.7	+	9	998	c.818C>G	c.(817-819)tCa>tGa	p.S273*		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCTATACACTCATTATCTGAT	0.308000													21	100					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345517	38345517	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:38345517C>T	ENST00000436615.3	+	6	876	c.386C>T	c.(385-387)tCa>tTa	p.S129L	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S178L|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.S184L|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S129L	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	335					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGCCGCCTTTCAGCATCTGTG	0.537000													27	184					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569745	30569745	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:30569745C>T	ENST00000376511.2	-	19	3233	c.2681G>A	c.(2680-2682)cGa>cAa	p.R894Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	894	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ATCGTGCCCTCGGTGGCCCCC	0.632000													5	12					0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30016683	30016683	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:30016683C>T	ENST00000563197.1	+	7	1672	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	INO80E_ENST00000304516.7_Missense_Mutation_p.R180W|INO80E_ENST00000567705.1_Missense_Mutation_p.R202W	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	219					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CACGGTCCCTCGGCAGATGTT	0.657000													3	7					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619212	64619212	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:64619212C>T	ENST00000498707.1	-	14	2453	c.2111G>A	c.(2110-2112)aGa>aAa	p.R704K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R676K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	704	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCTATCACTCTGTCTCGAAG	0.478000													26	52					0	0	1	0	0
PPBP	5473	broad.mit.edu	37	4	74853064	74853064	+	Silent	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:74853064G>T	ENST00000296028.3	-	3	405	c.312C>A	c.(310-312)atC>atA	p.I104I		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	104					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGTCCAGGCAGATTTTCCTCC	0.428000													11	85					7.93312e-07	8.29837e-07	1	1	0
MINPP1	9562	broad.mit.edu	37	10	89268224	89268224	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:89268224G>C	ENST00000371996.4	+	2	810	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	MINPP1_ENST00000371994.4_Missense_Mutation_p.E257Q|MINPP1_ENST00000536010.1_Missense_Mutation_p.E56Q	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	257					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		AACTGGACCAGAAATGCAGAA	0.323000													13	88					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106173615	106173615	+	RNA	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr14:106173615C>T	ENST00000390547.2	-	0	951																											GGCAGGGCCTCGTGGCCCACC	0.637000													9	57					0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99329961	99329961	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:99329961C>T	ENST00000370664.3	+	3	701	c.365C>T	c.(364-366)cCg>cTg	p.P122L		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	122										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGCCTGTCACCGCCGGTGAAC	0.647000													5	71					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102768981	102768981	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:102768981G>C	ENST00000417955.1	-	2	397	c.243C>G	c.(241-243)ctC>ctG	p.L81L	NAPEPLD_ENST00000427257.1_Silent_p.L81L|NAPEPLD_ENST00000465647.1_Silent_p.L81L|NAPEPLD_ENST00000455523.2_Silent_p.L154L|NAPEPLD_ENST00000341533.4_Silent_p.L81L			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	81					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCAGCCATCTGAGAACATTTG	0.388000													14	114					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68153885	68153885	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:68153885C>T	ENST00000294304.7	+	6	1223	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	373	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACGACATCCGGCACGCCAT	0.657000													7	47					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19553347	19553347	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:19553347C>G	ENST00000396212.2	+	7	2624	c.2188C>G	c.(2188-2190)Caa>Gaa	p.Q730E	CCP110_ENST00000396208.2_Missense_Mutation_p.Q730E|CCP110_ENST00000381396.5_Missense_Mutation_p.Q730E	NM_014711.4	NP_055526	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	730					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AATGCTGTCTCAAGCGGACTC	0.368000													35	83					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42981928	42981928	+	Missense_Mutation	SNP	G	G	A	rs143816327		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:42981928G>A	ENST00000252115.5	-	9	1239	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.R350C	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	379					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTCACCCTGCGAGGCAGCTCG	0.557000													11	31					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528724	157528724	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:157528724C>T	ENST00000346085.5	+	20	6450	c.6449C>T	c.(6448-6450)gCt>gTt	p.A2150V	ARID1B_ENST00000350026.5_Missense_Mutation_p.A2137V|ARID1B_ENST00000275248.4_Missense_Mutation_p.A2132V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2190V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2137					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)		AGGGCCATAGCTGTGCAGAAA	0.532000													74	64					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996644	98996644	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:98996644G>A	ENST00000393504.1	+	4	639	c.222G>A	c.(220-222)tcG>tcA	p.S74S	CNGA3_ENST00000436404.2_Silent_p.S74S|CNGA3_ENST00000409937.1_Silent_p.S78S|CNGA3_ENST00000272602.2_Silent_p.S74S	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	74					signal transduction|visual perception	integral to membrane	cGMP binding	p.S74S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCAGGCTGTCGCGCCTCATCT	0.602000													84	73					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86952568	86952568	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:86952568T>C	ENST00000395169.3	-	12	1733	c.1013A>G	c.(1012-1014)tAt>tGt	p.Y338C	MAPK10_ENST00000395160.3_Missense_Mutation_p.Y231C|MAPK10_ENST00000361569.2_Missense_Mutation_p.Y376C|MAPK10_ENST00000395166.1_Missense_Mutation_p.Y338C|MAPK10_ENST00000395161.2_Missense_Mutation_p.Y376C|MAPK10_ENST00000395157.3_Missense_Mutation_p.Y231C|MAPK10_ENST00000359221.3_Missense_Mutation_p.Y376C|MAPK10_ENST00000449047.2_Missense_Mutation_p.Y231C	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	376	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTGCTTGTCATATATCTGAGG	0.323000													8	21					0	0	1	0	0
MIR17HG	407975	broad.mit.edu	37	13	92002932	92002932	+	RNA	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr13:92002932A>G	ENST00000385012.1	+	0	74					NR_029487.1																						CACTTGTAGCATTATGGTGAC	0.453000													135	51					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784569	30784569	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:30784569C>T	ENST00000246229.4	-	3	1441	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCAGTGCTTCATCTAGGAGG	0.617000													3	30					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58539173	58539173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:58539173G>A	ENST00000083182.3	-	8	1221	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	312					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TAACATACCTGATAAATTGCA	0.333000													15	171					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72132851	72132851	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:72132851G>T	ENST00000268482.3	+	6	1299	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	264					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTACTCGGATGACACGCCTCT	0.592000													4	13					0.00909568	0.00917646	1	1	0
PTPRR	5801	broad.mit.edu	37	12	71056365	71056365	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:71056365C>A	ENST00000283228.2	-	11	1970	c.1518G>T	c.(1516-1518)ccG>ccT	p.P506P	PTPRR_ENST00000440835.2_Silent_p.P261P|PTPRR_ENST00000378778.1_Silent_p.P300P|PTPRR_ENST00000549308.1_Silent_p.P261P|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000342084.4_Silent_p.P394P	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	506	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTCTCTTTTCCGGCCAGTATA	0.368000													16	46					1.00905e-13	1.11941e-13	1	1	0
MEA1	4201	broad.mit.edu	37	6	42981002	42981002	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:42981002C>T	ENST00000244711.3	-	2	308	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	52					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCAGGCTCCTCACTGCTCCAA	0.592000													11	154					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644639	169644639	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:169644639G>A	ENST00000428432.2	+	6	978	c.589G>A	c.(589-591)Gat>Aat	p.D197N	SAMD7_ENST00000335556.3_Missense_Mutation_p.D197N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	197										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCTAGACAGTGATGCTGAGAG	0.468000													8	48					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13231065	13231065	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:13231065C>T	ENST00000378694.1	+	9	1475	c.1400C>T	c.(1399-1401)tCg>tTg	p.S467L	MCM10_ENST00000378714.3_Missense_Mutation_p.S467L|MCM10_ENST00000484800.2_Missense_Mutation_p.S468L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	468					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						TCTTCTGCCTCGTATGCAGCT	0.488000													47	78					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49412884	49412884	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:49412884C>T	ENST00000418115.1	-	2	523	c.139G>A	c.(139-141)Gag>Aag	p.E47K	RHOA_ENST00000454011.2_Missense_Mutation_p.E47K|RHOA_ENST00000422781.1_Missense_Mutation_p.E47K	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	47					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCATCCACCTCGATATCTGCC	0.433000													70	59					0	0	1	0	0
MMS19	64210	broad.mit.edu	37	10	99240789	99240789	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:99240789C>T	ENST00000438925.2	-	3	507	c.172G>A	c.(172-174)Gag>Aag	p.E58K	MMS19_ENST00000327238.10_Missense_Mutation_p.E58K|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000355839.6_Missense_Mutation_p.E58K|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.E58K	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	58					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		TCTGGATTCTCTAGAGAGGAC	0.473000								Direct reversal of damage					3	13					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129832614	129832614	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:129832614C>G	ENST00000397622.2	-	6	745	c.623G>C	c.(622-624)gGa>gCa	p.G208A	TMEM209_ENST00000473456.1_Missense_Mutation_p.G208A|TMEM209_ENST00000336804.8_Missense_Mutation_p.G207A|TMEM209_ENST00000462753.1_Missense_Mutation_p.G207A|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	208	Ser-rich.					integral to membrane		p.G207E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CTCCACTGGTCCAACAGTGGT	0.428000													14	24					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851973	97851973	+	Silent	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:97851973A>G	ENST00000354565.2	+	1	432	c.432A>G	c.(430-432)ctA>ctG	p.L144L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCATCCGGCTATTAATCTTGT	0.373000													33	134					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070110	141070110	+	RNA	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:141070110C>G	ENST00000503395.1	+	0	1190																											ACCATGGACTCTGTGCGCTCG	0.701000													21	15					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182780354	182780354	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:182780354C>G	ENST00000431877.2	+	11	2166	c.1987C>G	c.(1987-1989)Ctg>Gtg	p.L663V	SSFA2_ENST00000409001.1_Missense_Mutation_p.L663V|SSFA2_ENST00000409136.1_Missense_Mutation_p.L172V|SSFA2_ENST00000320370.7_Missense_Mutation_p.L663V|SSFA2_ENST00000428267.2_Missense_Mutation_p.L510V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	663						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACACCATATTCTGAAATCATT	0.423000													15	44					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													5	34					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923826	150923826	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:150923826G>C	ENST00000261800.5	-	9	6874	c.6862C>G	c.(6862-6864)Cag>Gag	p.Q2288E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2288	Cadherin 20.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGGGGTCTGAGCAGGCAAG	0.502000													13	77					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821418	43821418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:43821418G>T	ENST00000382031.1	+	5	8492	c.8461G>T	c.(8461-8463)Gag>Tag	p.E2821*	MAP1A_ENST00000399453.1_Nonsense_Mutation_p.E2583*|MAP1A_ENST00000300231.5_Nonsense_Mutation_p.E2583*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2583						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.E2583K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCTGACCCCGAGGGGCTCAG	0.667000													6	26					0.00307968	0.00312926	1	1	0
CRCT1	54544	broad.mit.edu	37	1	152487935	152487935	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:152487935G>T	ENST00000368790.3	+	2	149	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	26										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tccgtgtcccgccccggcgcc	0.716000													4	10					0.014758	0.0148627	1	1	0
RAD23B	5887	broad.mit.edu	37	9	110086241	110086241	+	Silent	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:110086241T>C	ENST00000358015.3	+	8	1239	c.888T>C	c.(886-888)ccT>ccC	p.P296P	RAD23B_ENST00000416373.2_Silent_p.P224P	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	296	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCAGAATCCTTCCTTGCTTC	0.383000								Direct reversal of damage;Nucleotide excision repair (NER)					5	113					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41573597	41573597	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:41573597G>A	ENST00000262415.3	+	9	1333	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	DHX8_ENST00000540306.1_Missense_Mutation_p.E421K	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	421						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGACTTTGATGAAGAGACTGG	0.413000													47	56					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49436662	49436662	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:49436662C>T	ENST00000301067.7	-	26	5644		c.e26-1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTGGGCAGTTCTGTGGGGGAA	0.537000													9	32					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781386	135781386	+	Nonsense_Mutation	SNP	G	G	A	rs118203549		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:135781386G>A	ENST00000298552.3	-	15	1800	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.Q527*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.Q476*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	527					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGGCGCCCTGAGAACTGGAG	0.597000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				22	17					0	0	1	0	0
MRPL13	28998	broad.mit.edu	37	8	121426299	121426299	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:121426299C>T	ENST00000306185.3	-	6	737	c.446G>A	c.(445-447)cGa>cAa	p.R149Q		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	149					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGTATTTTTCGTGGTTGAGG	0.313000													8	89					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1825905	1825905	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:1825905G>A	ENST00000170168.4	-	3	2043	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	650						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGTCAGACCCGAAAGCCCCTT	0.612000													7	29					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520387	40520387	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:40520387C>G	ENST00000347077.4	+	7	1426	c.1210C>G	c.(1210-1212)Cag>Gag	p.Q404E	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.Q378E	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTCAACATCAGAAAATTCA	0.368000													7	77					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105855596	105855596	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:105855596G>T	ENST00000372548.4	+	1	395	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	CXorf57_ENST00000372544.2_Missense_Mutation_p.D96Y	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	96										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTATTGCTATGATGTGACGAT	0.517000													30	102					1.06801e-11	1.17564e-11	1	1	0
HKR1	284459	broad.mit.edu	37	19	37853584	37853584	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:37853584C>T	ENST00000591471.1	+	9	1709	c.68C>T	c.(67-69)tCt>tTt	p.S23F	HKR1_ENST00000589392.1_Missense_Mutation_p.S278F|HKR1_ENST00000324411.4_Missense_Mutation_p.S296F|HKR1_ENST00000544914.1_Missense_Mutation_p.S23F|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.S277F|HKR1_ENST00000541583.2_Missense_Mutation_p.S235F			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	296					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGACACACTCTGGGGGAAAG	0.502000													6	108					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913854	77913854	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:77913854G>C	ENST00000321110.1	-	2	359	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	22							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CACTGCACTTGAGCCTGCCGA	0.468000													5	12					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36545979	36545979	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:36545979C>T	ENST00000401500.2	+	1	141	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.P36S|WDR62_ENST00000270301.7_Missense_Mutation_p.P36S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	36					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCCCGCCCCCCGCCCCACC	0.701000													7	7					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558797	129558797	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:129558797C>T	ENST00000422113.2	-	9	3249	c.2923G>A	c.(2923-2925)Gag>Aag	p.E975K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E513K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	975						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGTGATTCTCCAACAGCTCT	0.473000													13	144					0	0	1	0	0
DNAJC17	55192	broad.mit.edu	37	15	41071757	41071757	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:41071757C>T	ENST00000220496.4	-	3	223	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	65	J.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCTGCAGCATCGGTCAGCACC	0.498000													24	41					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43375976	43375976	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:43375976C>G	ENST00000244296.2	-	3	789	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q	PSG1_ENST00000312439.6_Missense_Mutation_p.E218Q|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Missense_Mutation_p.E218Q|PSG1_ENST00000595356.1_Missense_Mutation_p.E218Q	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1									p.E218Q(3)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTCCGTATTTCACATTCATAG	0.522000													58	311					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120336053	120336053	+	Silent	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:120336053A>G	ENST00000397843.2	+	28	2887	c.2721A>G	c.(2719-2721)cgA>cgG	p.R907R	ARHGEF12_ENST00000356641.3_Silent_p.R888R|ARHGEF12_ENST00000532993.1_Silent_p.R804R	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	907	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGGATTCTCGATTTCAGACTT	0.388000			T	MLL	AML								16	30					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53364903	53364903	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:53364903C>A	ENST00000229416.6	-	15	2125	c.1642G>T	c.(1642-1644)Gat>Tat	p.D548Y		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	548					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GTGTCCACATCCACTTCCATG	0.408000													15	59					4.14922e-12	4.58513e-12	1	1	0
TMEM175	84286	broad.mit.edu	37	4	945474	945474	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:945474G>C	ENST00000264771.4	+	6	532	c.347G>C	c.(346-348)tGc>tCc	p.C116S	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.C34S	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	116						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTCCAGGCCTGCATGATGACC	0.627000													16	59					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37382849	37382849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:37382849G>A	ENST00000520965.1	-	6	1153	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Nonsense_Mutation_p.Q282*|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAAAAGTTGTGAACTTTTA	0.353000													28	54					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31463352	31463352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr18:31463352C>A	ENST00000261592.5	-	10	1876	c.1579G>T	c.(1579-1581)Gag>Tag	p.E527*	NOL4_ENST00000535384.1_Nonsense_Mutation_p.E242*|NOL4_ENST00000589544.1_Nonsense_Mutation_p.E425*|NOL4_ENST00000269185.4_Nonsense_Mutation_p.E311*|NOL4_ENST00000538587.1_Nonsense_Mutation_p.E453*|NOL4_ENST00000535475.1_Nonsense_Mutation_p.E308*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	527						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGGGTCGCCTCTGGTTTACAC	0.478000													23	59					1.85244e-09	2.00416e-09	1	1	0
KIF14	9928	broad.mit.edu	37	1	200584525	200584525	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:200584525C>A	ENST00000367350.4	-	3	1763	c.1325G>T	c.(1324-1326)tGt>tTt	p.C442F		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	442	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AGCAAAAAGACAGGTATTGAA	0.398000													12	76					5.16669e-11	5.6654e-11	1	1	0
GBP4	115361	broad.mit.edu	37	1	89652719	89652719	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:89652719C>T	ENST00000355754.6	-	9	1574	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	493						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGGGCTTTGTCTGACTGCAGG	0.537000													15	85					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773481	107773481	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:107773481C>T	ENST00000311955.3	-	2	984	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	310					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACATGTCCATCATTTCCCTGT	0.498000													35	50					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33079675	33079675	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:33079675C>T	ENST00000334274.4	+	5	1028	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	TCP11L1_ENST00000432887.1_Missense_Mutation_p.P210S|TCP11L1_ENST00000531632.2_Missense_Mutation_p.P210S	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	210										kidney(1)|liver(2)|lung(2)|skin(1)	6						GGAAATAGTGCCCCTTTTCAG	0.383000													6	25					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72145270	72145270	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:72145270G>A	ENST00000437826.2	-	1	156	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	CLPB_ENST00000538039.1_Silent_p.L83L|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000294053.3_Silent_p.L83L			Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	0					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCAGCCGCGAGGCATTTGG	0.692000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	33					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110211095	110211095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:110211095G>T	ENST00000369831.2	+	2	179	c.85G>T	c.(85-87)Gag>Tag	p.E29*	GSTM2_ENST00000369829.2_Nonsense_Mutation_p.E29*|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000369827.3_Nonsense_Mutation_p.E27*|GSTM2_ENST00000241337.4_Nonsense_Mutation_p.E29*|GSTM2_ENST00000460717.3_Nonsense_Mutation_p.E29*|GSTM2_ENST00000442650.1_Nonsense_Mutation_p.E29*					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTCAAGCTACGAGGAAAAGAA	0.587000													6	75					2.0095e-06	2.09047e-06	1	1	0
CORO2B	10391	broad.mit.edu	37	15	68987595	68987595	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:68987595G>A	ENST00000543950.1	+	3	672	c.318G>A	c.(316-318)tcG>tcA	p.S106S	CORO2B_ENST00000261861.5_Splice_Site_p.S106S|CORO2B_ENST00000566799.1_Splice_Site_p.S111S|CORO2B_ENST00000540068.1_Splice_Site_p.S106S	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	111					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGACACGTCGGTGAGCAGAG	0.617000													23	24					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86919106	86919106	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:86919106G>A	ENST00000370565.4	+	13	2372	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	737					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAGGAGGAGCGAAAGTGGGGC	0.448000													6	43					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451128	55451128	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:55451128G>A	ENST00000446217.1	-	6	1545	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	NLRP7_ENST00000592784.1_Silent_p.N353N|NLRP7_ENST00000590030.1_Silent_p.N353N|NLRP7_ENST00000448121.2_Silent_p.N353N|NLRP7_ENST00000588756.1_Silent_p.N353N|NLRP7_ENST00000328092.5_Silent_p.N353N|NLRP7_ENST00000340844.2_Silent_p.N353N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	353	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAGGGCCGCGTTGCTCCTCA	0.627000													6	37					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129042668	129042668	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:129042668G>A	ENST00000394422.3	+	4	224	c.196G>A	c.(196-198)Gag>Aag	p.E66K	UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E66K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	66					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGAGAGGTCTGAGGCTAGTCT	0.438000													45	138					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140023452	140023452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:140023452G>T	ENST00000394671.3	+	9	1107	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TMCO6_ENST00000252100.6_Nonsense_Mutation_p.E342*|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.E96*|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	336					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGATGAGCGTGTTGT	0.532000													6	47					5.9392e-07	6.24716e-07	1	1	0
SEC23B	10483	broad.mit.edu	37	20	18523687	18523687	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:18523687C>T	ENST00000336714.3	+	14	1968	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	SEC23B_ENST00000377465.1_Silent_p.L512L|SEC23B_ENST00000262544.2_Silent_p.L512L|SEC23B_ENST00000377475.3_Silent_p.L512L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	512					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGAGTCAGCTCAGGCACATAG	0.522000													14	127					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349455	89349455	+	Missense_Mutation	SNP	C	C	A	rs112888268		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:89349455C>A	ENST00000301030.4	-	9	3955	c.3495G>T	c.(3493-3495)agG>agT	p.R1165S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1165S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1165	Lys-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)		CAGAAGACTTCCTGTGTCTGT	0.617000													14	45					7.93312e-07	8.29837e-07	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577087	33577087	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:33577087T>C	ENST00000504830.1	-	19	3379	c.3044A>G	c.(3043-3045)aAc>aGc	p.N1015S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N930S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1015	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1015T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTTGGTGGGTTTTTTCCATT	0.532000										HNSCC(64;0.19)			54	81					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	52					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51291311	51291311	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:51291311G>A	ENST00000261842.5	+	19	3053	c.2947G>A	c.(2947-2949)Gaa>Aaa	p.E983K	AP4E1_ENST00000561397.1_Intron|AP4E1_ENST00000560508.1_Missense_Mutation_p.E908K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	983					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATGGAAGCAGAAAGCACCAA	0.358000													17	60					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62456030	62456030	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:62456030C>A	ENST00000371158.2	+	28	3975	c.3861C>A	c.(3859-3861)ctC>ctA	p.L1287L	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Silent_p.L1287L|INADL_ENST00000543708.1_Silent_p.L71L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1287	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAGATGAACTCTTAGAGGTGA	0.443000													12	28					2.80697e-09	3.02535e-09	1	1	0
RNF213	57674	broad.mit.edu	37	17	78350115	78350115	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:78350115G>A	ENST00000582970.1	+	52	13343	c.13200G>A	c.(13198-13200)gtG>gtA	p.V4400V	RNF213_ENST00000336301.6_Silent_p.V2473V|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.V4449V|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGAAGCTGTGAGCAAATTCA	0.418000													33	68					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147111	145147111	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:145147111C>T	ENST00000558170.2	-	10	4736	c.3552G>A	c.(3550-3552)gaG>gaA	p.E1184E	ZEB2_ENST00000409487.3_Silent_p.E1184E|ZEB2_ENST00000539609.3_Silent_p.E1160E|ZEB2_ENST00000303660.4_Silent_p.E1184E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1184	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATCTCCAGTCTCTTCTTCAT	0.453000													18	159					0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17132453	17132453	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:17132453G>C	ENST00000324849.4	+	5	1302	c.628G>C	c.(628-630)Gat>Cat	p.D210H	VPS37A_ENST00000521829.1_Missense_Mutation_p.D185H	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	210					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		TCCCACAGTGGATGCTTCAAT	0.438000													23	20					0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186360858	186360858	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:186360858G>A	ENST00000367470.3	+	8	882	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	C1orf27_ENST00000287859.6_Missense_Mutation_p.E216K|C1orf27_ENST00000419367.3_Missense_Mutation_p.E184K|C1orf27_ENST00000432021.3_Missense_Mutation_p.E216K	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	216				E -> G (in Ref. 2; ABF71985).		integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CAAGGAAATAGAAAATGGTGT	0.318000													5	6					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53289552	53289552	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:53289552G>A	ENST00000566029.1	+	19	4279	c.4070G>A	c.(4069-4071)cGa>cAa	p.R1357Q	CHD9_ENST00000447540.1_Missense_Mutation_p.R1357Q|CHD9_ENST00000398510.3_Missense_Mutation_p.R1357Q|CHD9_ENST00000564845.1_Missense_Mutation_p.R1357Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1357					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATCTGCTTCGAAGAGGTGCT	0.338000													20	55					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46806182	46806182	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:46806182C>T	ENST00000529230.1	-	17	2056	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	CKAP5_ENST00000415402.1_Silent_p.Q670Q|CKAP5_ENST00000312055.5_Silent_p.Q670Q|CKAP5_ENST00000354558.3_Silent_p.Q670Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	670					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AATTTCCCTTCTGGGCAATCA	0.383000													20	63					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374506	240374506	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:240374506G>C	ENST00000319653.9	+	6	4266	c.4036G>C	c.(4036-4038)Gat>Cat	p.D1346H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1346	FH2.				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			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)			ACCTATCTCTGATACTATCTC	0.338000													13	61					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21069497	21069497	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:21069497G>A	ENST00000261383.3	-	27	3833	c.3834C>T	c.(3832-3834)gtC>gtT	p.V1278V	DNAH3_ENST00000415178.1_Silent_p.V1278V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1278	Stem (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)		GCCACTGTAAGACCCAGTGAT	0.498000													3	28					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68689209	68689209	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:68689209G>C	ENST00000509734.1	+	14	2015	c.1337G>C	c.(1336-1338)gGa>gCa	p.G446A	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.G435A|RAD17_ENST00000354312.3_Missense_Mutation_p.G435A|RAD17_ENST00000354868.5_Missense_Mutation_p.G435A|RAD17_ENST00000358030.2_Missense_Mutation_p.G270A|RAD17_ENST00000521422.1_Missense_Mutation_p.G270A|RAD17_ENST00000361732.2_Missense_Mutation_p.G435A|RAD17_ENST00000282891.6_Missense_Mutation_p.G349A|RAD17_ENST00000380774.3_Missense_Mutation_p.G446A|RAD17_ENST00000305138.4_Missense_Mutation_p.G435A			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	446	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CACATGCCTGGAGACTTATTT	0.303000								Other conserved DNA damage response genes					11	47					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73068100	73068100	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:73068100C>G	ENST00000263674.3	+	8	4272	c.3922C>G	c.(3922-3924)Ctc>Gtc	p.L1308V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1308					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGACCGGTCTCTCTTCCTGTT	0.622000													5	39					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10432288	10432288	+	Missense_Mutation	SNP	C	C	T	rs111778915		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:10432288C>T	ENST00000293677.6	-	7	1312	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	394	Pro-rich.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCAGGATGCCGGGCTTCTAG	0.672000													4	30					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125464045	125464045	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:125464045G>C	ENST00000328599.3	+	1	998	c.877G>C	c.(877-879)Gat>Cat	p.D293H	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	293	S-adenosyl-L-methionine binding (By similarity).				tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACACTTTGGAGATAACAGAAA	0.473000													87	78					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229329	20229329	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:20229329C>G	ENST00000418063.2	+	4	1078	c.966C>G	c.(964-966)ttC>ttG	p.F322L	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	322						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GCAAAGCCTTCAAGCTCTCCT	0.413000													5	27					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27075565	27075565	+	Silent	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:27075565T>C	ENST00000261191.7	-	8	1409	c.873A>G	c.(871-873)gtA>gtG	p.V291V	ASUN_ENST00000539625.1_Silent_p.V190V	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	291					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TCAGGAAATCTACATGTGCAT	0.348000													40	33					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60553243	60553243	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:60553243G>A	ENST00000373886.3	+	9	1051		c.e9-1			NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)						multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACATTTTCTAGGGTTGTCTTC	0.333000													7	64					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77924859	77924859	+	Silent	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:77924859A>G	ENST00000529308.1	+	11	3318	c.3057A>G	c.(3055-3057)taA>taG	p.*1019*	USP35_ENST00000526425.1_Silent_p.*750*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Silent_p.*587*|USP35_ENST00000441408.2_Silent_p.*605*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	0					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGGTCTTCTAATGTGAACCTG	0.582000													5	24					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75893862	75893862	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:75893862C>G	ENST00000355264.4	-	4	817	c.506G>C	c.(505-507)cGg>cCg	p.R169P	AP3M1_ENST00000372745.1_Missense_Mutation_p.R169P	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	169					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TACCCCTGCCCGACGCCATGG	0.423000													13	115					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5642953	5642953	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:5642953C>T	ENST00000382361.3	+	2	1012	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	FSCN1_ENST00000340250.6_Missense_Mutation_p.R279C	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	300					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GGAGATCGACCGCGACACCAA	0.637000													17	27					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71196046	71196046	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:71196046G>C	ENST00000299886.4	+	5	1036	c.956G>C	c.(955-957)aGc>aCc	p.S319T		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	319					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AAACTCTGCAGCTGGTTTAAA	0.507000													13	60					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140472024	140472024	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:140472024C>A	ENST00000277540.2	-	2	342	c.185G>T	c.(184-186)cGt>cTt	p.R62L	DPH7_ENST00000479650.1_Intron	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		ACGGCCTAAACGGACCTGAGG	0.458000													29	24					1.7881e-09	1.93825e-09	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155199396	155199396	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:155199396C>G	ENST00000460012.1	-	23	4686	c.4329G>C	c.(4327-4329)ttG>ttC	p.L1443F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.L1481F|PLCH1_ENST00000414191.1_Missense_Mutation_p.L1443F|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.L1443F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1481					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)			TCAGAGCAGGCAAAGGAAGAT	0.463000													10	82					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273276	26273276	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:26273276A>C	ENST00000377733.2	+	1	133	c.73A>C	c.(73-75)Aag>Cag	p.K25Q		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GGCACAGAAGAAGGATGGCAA	0.577000													16	155					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70170534	70170534	+	Silent	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:70170534C>G	ENST00000253925.7	+	3	506	c.291C>G	c.(289-291)ctC>ctG	p.L97L	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.L97L	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	97					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAAAGAACTCAATGTATGCA	0.403000													16	106					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79033511	79033511	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:79033511G>C	ENST00000446378.2	+	2	8954	c.8923G>C	c.(8923-8925)Gat>Cat	p.D2975H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2975						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAAATGCAAGATAAATTAGA	0.358000													10	21					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427833	134427833	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:134427833C>T	ENST00000370766.3	-	3	2943	c.234G>A	c.(232-234)ctG>ctA	p.L78L	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Silent_p.L78L	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	78	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCTCTGGCCTCAGCCACTGAT	0.522000													19	33					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47986462	47986462	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:47986462C>T	ENST00000338134.3	-	4	512	c.405G>A	c.(403-405)ctG>ctA	p.L135L	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	135					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GCTCCAGGTTCAGGCAGCTCT	0.612000													22	137					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113435517	113435517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:113435517G>T	ENST00000392583.2	+	4	1027	c.820G>T	c.(820-822)Gag>Tag	p.E274*	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Nonsense_Mutation_p.E274*	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	274	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTTTGAAGATGAGACCATCAG	0.502000													3	18					0.150653	0.150919	1	1	0
POTEH	23784	broad.mit.edu	37	22	16279236	16279236	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:16279236G>C	ENST00000343518.6	-	4	1038	c.987C>G	c.(985-987)atC>atG	p.I329M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTTTTTCTTGATTAAAAATT	0.333000													14	444					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27777982	27777982	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:27777982C>T	ENST00000333743.6	+	10	1613	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACGTCCTTCCTGCTCTTTA	0.478000													3	45					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892235	72892235	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:72892235C>T	ENST00000339594.4	-	7	1894	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R519Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	519	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AACAAGACTTCGCAATTCTTC	0.443000													17	145					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37337828	37337828	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:37337828G>A	ENST00000373091.3	-	4	709	c.693C>T	c.(691-693)ttC>ttT	p.F231F	GRIK3_ENST00000373093.4_Silent_p.F231F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	231					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCTGCAGTCGAAGATAATGC	0.607000													3	23					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17691560	17691560	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:17691560C>T	ENST00000252599.4	+	11	1567	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		GGCTGTGCCTCGCGTGAGGAA	0.662000													5	41					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347704	140347704	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:140347704C>T	ENST00000289269.5	+	1	1885	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		451	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCACATCCCTGCGTACAC	0.532000													35	77					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86176223	86176223	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:86176223T>C	ENST00000543262.1	-	8	1155	c.829A>G	c.(829-831)Atc>Gtc	p.I277V	ME3_ENST00000359636.2_Missense_Mutation_p.I277V|ME3_ENST00000525957.1_5'UTR|ME3_ENST00000393324.3_Missense_Mutation_p.I277V|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.I215V	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	277					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TCAAATTGGATGAGGCAATTT	0.488000													92	78					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556763	214556763	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:214556763T>A	ENST00000366956.5	-	13	2629	c.2435A>T	c.(2434-2436)gAc>gTc	p.D812V	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	812					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACTAGTCAGGTCGGGTTCCGA	0.567000													8	46					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183514427	183514427	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:183514427C>T	ENST00000367537.3	+	17	2494	c.2299C>T	c.(2299-2301)Cac>Tac	p.H767Y	SMG7_ENST00000456731.2_Missense_Mutation_p.H696Y|SMG7_ENST00000507469.1_Missense_Mutation_p.H738Y|SMG7_ENST00000515829.2_Missense_Mutation_p.H738Y|SMG7_ENST00000347615.2_Missense_Mutation_p.H784Y|SMG7_ENST00000508461.1_Missense_Mutation_p.H742Y			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	784	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAGCCCGCCTCACCACTCTGG	0.468000													10	65					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139101061	139101061	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:139101061G>A	ENST00000332797.6	+	3	686	c.531G>A	c.(529-531)gaG>gaA	p.E177E		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	177										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ATGTTCAGGAGATGGAGAGAG	0.438000													7	65					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30970082	30970082	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:30970082G>A	ENST00000262519.8	+	2	716	c.30G>A	c.(28-30)caG>caA	p.Q10Q		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	10					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						GAGATGGGCAGAAGGCCCCGA	0.577000													4	73					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34811942	34811942	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:34811942G>C	ENST00000265109.3	+	9	915	c.628G>C	c.(628-630)Gac>Cac	p.D210H	RAI14_ENST00000506376.1_Missense_Mutation_p.D202H|RAI14_ENST00000397449.1_Missense_Mutation_p.D203H|RAI14_ENST00000512629.1_Missense_Mutation_p.D210H|RAI14_ENST00000503673.1_Missense_Mutation_p.D210H|RAI14_ENST00000428746.2_Missense_Mutation_p.D210H|RAI14_ENST00000515799.1_Missense_Mutation_p.D213H	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	210						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAAGGGTGCAGACCTAAACCT	0.383000													5	110					0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151073738	151073738	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:151073738G>C	ENST00000568733.1	+	14	1648	c.1582G>C	c.(1582-1584)Gat>Cat	p.D528H	WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000413040.2_Missense_Mutation_p.D514H|NUB1_ENST00000355851.4_Missense_Mutation_p.D504H|NUB1_ENST00000566856.1_Missense_Mutation_p.D490H			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	504	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CATGGGTTTTGATGCACTCGT	0.632000													7	13					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87971286	87971286	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:87971286G>A	ENST00000369577.3	+	8	7982	c.7939G>A	c.(7939-7941)Gaa>Aaa	p.E2647K	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2642K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCCTTGTAAAGAAAGCGAAAC	0.353000													4	15					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155655412	155655412	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:155655412G>C	ENST00000496455.2	+	16	2348	c.2013G>C	c.(2011-2013)aaG>aaC	p.K671N	GMPS_ENST00000295920.7_Missense_Mutation_p.K572N	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase						glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGATTAAGAAGATTCCTGGTA	0.378000			T	MLL	AML								4	49					0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30008169	30008169	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:30008169G>A	ENST00000563197.1	+	3	1210	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	INO80E_ENST00000567254.1_Missense_Mutation_p.E65K|INO80E_ENST00000304516.7_Missense_Mutation_p.E65K|INO80E_ENST00000567705.1_Missense_Mutation_p.E65K|INO80E_ENST00000563040.1_3'UTR	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	65					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						GAACGTGGATGAAGACTCTTC	0.547000													8	76					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17275882	17275882	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:17275882T>A	ENST00000544301.1	+	5	1247	c.834T>A	c.(832-834)agT>agA	p.S278R	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.S278R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	278	Coil 2.|Rod.			S -> I (in Ref. 17; AAA61281).	cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AATATGAAAGTGTGGCTGCCA	0.488000													8	25					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33397524	33397524	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:33397524C>T	ENST00000242067.6	+	16	2131	c.1610C>T	c.(1609-1611)cCa>cTa	p.P537L	BBS9_ENST00000354265.4_Missense_Mutation_p.P502L|BBS9_ENST00000355070.2_Missense_Mutation_p.P532L|BBS9_ENST00000350941.3_Missense_Mutation_p.P497L|BBS9_ENST00000396127.2_Missense_Mutation_p.P502L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	537					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATTTGCCTACCAGGTCAGCCT	0.363000									Bardet-Biedl syndrome				25	106					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800634	84800634	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:84800634C>T	ENST00000389394.3	+	12	1984	c.1847C>T	c.(1846-1848)gCt>gTt	p.A616V	DNAH6_ENST00000237449.6_Missense_Mutation_p.A616V|DNAH6_ENST00000398278.2_Missense_Mutation_p.A616V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	616	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCTATGCAGCTACCTTTGAA	0.348000													4	158					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44039820	44039820	+	Silent	SNP	G	G	A	rs63750529	byFrequency	TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:44039820G>A	ENST00000344290.5	+	2	439	c.117G>A	c.(115-117)acG>acA	p.T39T	MAPT_ENST00000535772.1_Silent_p.T39T|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000571987.1_Silent_p.T39T|MAPT_ENST00000420682.2_Silent_p.T39T|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000340799.5_Silent_p.T39T|MAPT_ENST00000415613.2_Silent_p.T39T|MAPT_ENST00000446361.3_Silent_p.T39T|MAPT_ENST00000262410.5_Silent_p.T39T|MAPT_ENST00000334239.8_Silent_p.T39T|MAPT_ENST00000574436.1_Silent_p.T39T|MAPT_ENST00000351559.5_Silent_p.T39T|MAPT_ENST00000431008.3_Silent_p.T39T	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	39					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGGGTGACACGGACGCTGGCC	0.567000													4	23					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95802120	95802120	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:95802120G>A	ENST00000414645.2	+	19	2253	c.2154G>A	c.(2152-2154)gtG>gtA	p.V718V		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	718						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TCAACACTGTGATATCCTTCC	0.338000													77	146					0	0	1	0	0
MIR876	100126310	broad.mit.edu	37	9	28863668	28863668	+	RNA	SNP	A	A	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:28863668A>T	ENST00000401147.1	-	0	36					NR_030597.1																						ACATTAGCTTAGATATGGTGA	0.413000													14	94					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9964891	9964891	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:9964891G>A	ENST00000264833.4	-	6	1521	c.1336C>T	c.(1336-1338)Cac>Tac	p.H446Y	OLFM2_ENST00000590841.1_Missense_Mutation_p.H368Y	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	446	Olfactomedin-like.					extracellular region		p.H446Y(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CTGATGACGTGAAACAGGGTG	0.617000													13	25					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47311142	47311142	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr14:47311142G>C	ENST00000426342.1	-	17	2922	c.2176C>G	c.(2176-2178)Cga>Gga	p.R726G	MDGA2_ENST00000439988.3_Missense_Mutation_p.R1024G|MDGA2_ENST00000399222.3_Missense_Mutation_p.R157G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R726G|MDGA2_ENST00000399232.2_Missense_Mutation_p.R955G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	955					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTCACCTTCGAGGACTTAAG	0.388000													7	31					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130039907	130039907	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:130039907C>T	ENST00000223208.5	-	10	1216	c.946G>A	c.(946-948)Gag>Aag	p.E316K	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						G2/M transition of mitotic cell cycle	centrosome|cytosol											CCTTGCTCCTCTTCCAGATAA	0.418000													33	106					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17875194	17875194	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:17875194G>A	ENST00000594202.1	+	6	409	c.130G>A	c.(130-132)Gag>Aag	p.E44K	FCHO1_ENST00000596951.1_Missense_Mutation_p.E44K|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000595033.1_5'UTR|FCHO1_ENST00000596536.1_Missense_Mutation_p.E44K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E44K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E44K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E51K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E44K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E44K	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	44	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGCCACCATCGAGGAGACCTA	0.617000													8	37					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20891416	20891416	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:20891416G>A	ENST00000263205.7	+	2	150	c.81G>A	c.(79-81)atG>atA	p.M27I	MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_5'UTR|MED15_ENST00000406969.1_Start_Codon_SNP_p.M1I|MED15_ENST00000382974.2_Missense_Mutation_p.M27I|MED15_ENST00000292733.7_Missense_Mutation_p.M27I|MED15_ENST00000541476.1_Start_Codon_SNP_p.M1I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	27	Interaction with SREBF1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGGATGCCATGAGGAAAGCTG	0.557000													3	34					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203847020	203847020	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:203847020G>C	ENST00000402905.3	+	15	2236	c.1915G>C	c.(1915-1917)Gat>Cat	p.D639H	CARF_ENST00000320443.8_Missense_Mutation_p.D639H|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Missense_Mutation_p.D551H|CARF_ENST00000438828.2_Missense_Mutation_p.D639H|CARF_ENST00000545262.1_Missense_Mutation_p.D563H|CARF_ENST00000428585.1_Missense_Mutation_p.D563H|CARF_ENST00000414439.1_Missense_Mutation_p.D537H	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		TCCAGAACCAGATCAAAATCT	0.433000													13	38					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151868427	151868427	+	Splice_Site	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:151868427C>A	ENST00000355193.2	-	40	9593	c.9375G>T	c.(9373-9375)agG>agT	p.R3125S	KMT2C_ENST00000262189.6_Splice_Site_p.R3125S					lysine (K)-specific methyltransferase 2C																		TAAAAGGGAACCTGTCAAAAC	0.408000													5	33					0.00116845	0.00118939	1	1	0
IDH2	3418	broad.mit.edu	37	15	90633751	90633751	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:90633751G>C	ENST00000330062.3	-	3	446	c.333C>G	c.(331-333)gtC>gtG	p.V111V	IDH2_ENST00000540499.2_Silent_p.V59V|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	111					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			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)			TGGCACACTTGACAGCCACAC	0.602000			M		GBM								6	35					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69959296	69959296	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:69959296G>A	ENST00000358913.5	+	17	3945	c.3457G>A	c.(3457-3459)Ggg>Agg	p.G1153R	MYPN_ENST00000540630.1_Missense_Mutation_p.G1153R|MYPN_ENST00000354393.2_Missense_Mutation_p.G878R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1153	Ig-like 4.|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						CAACAAAACCGGGCAGAATTC	0.517000													12	53					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453510	53453510	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:53453510C>T	ENST00000357666.4	-	5	1818	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.E506E	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGTAAGGTTTCTCTCCAGCAT	0.393000													16	118					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101608973	101608973	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:101608973G>T	ENST00000311812.2	-	10	1022	c.872C>A	c.(871-873)tCt>tAt	p.S291Y	SNX31_ENST00000428383.2_Missense_Mutation_p.S192Y	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	291					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATTGCCAACAGAAAGAACAGC	0.542000													41	121					3.54909e-21	4.02372e-21	1	1	0
C1QTNF5	114902	broad.mit.edu	37	11	119210243	119210243	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:119210243G>C	ENST00000445041.2	-	15	3325	c.530C>G	c.(529-531)tCt>tGt	p.S177C	C1QTNF5_ENST00000528368.1_Missense_Mutation_p.S177C|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5	0	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGGAAGAAAGAGGCAATGGA	0.622000													17	39					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374636	1374636	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:1374636C>T	ENST00000476993.1	+	3	885	c.807C>T	c.(805-807)atC>atT	p.I269I	VWA1_ENST00000404702.3_Silent_p.I57I|VWA1_ENST00000338660.5_3'UTR	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	269	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGACTGGATCTGGGCCGGCC	0.701000													3	4					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17531045	17531045	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:17531045G>A	ENST00000005226.7	-	18	1870	c.1871C>T	c.(1870-1872)tCg>tTg	p.S624L	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTCCAGCGCCGAGGGCAGTGG	0.637000													4	23					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481456	140481456	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:140481456T>C	ENST00000288602.6	-	11	1412	c.1352A>G	c.(1351-1353)gAg>gGg	p.E451G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	451					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATCAGGAATCTCCCAATCATC	0.398000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				6	72					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75849089	75849089	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:75849089G>T	ENST00000211998.4	+	9	1252	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.K386N	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	386	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCATTGCAAAGAAGATCGATG	0.443000													6	76					5.9392e-07	6.24716e-07	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21621561	21621561	+	Silent	SNP	T	T	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:21621561T>G	ENST00000328843.6	+	9	1663	c.1632T>G	c.(1630-1632)acT>acG	p.T544T	DNAH11_ENST00000409508.3_Silent_p.T544T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	544	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTCCAAAACTCTGGAATTTG	0.338000									Kartagener syndrome				4	85					0	0	1	0	0
SNX3	8724	broad.mit.edu	37	6	108533400	108533400	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:108533400C>T	ENST00000230085.8	-	4	780	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SNX3_ENST00000349379.5_Missense_Mutation_p.E126K|SNX3_ENST00000426155.2_Missense_Mutation_p.E116K	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	148	PX.				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		TCTATTATTTCATCTTGTAAA	0.338000													7	23					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231174729	231174729	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:231174729C>T	ENST00000392045.3	+	23	2263	c.2149C>T	c.(2149-2151)Cac>Tac	p.H717Y	SP140_ENST00000343805.6_Missense_Mutation_p.H657Y|SP140_ENST00000350136.5_Missense_Mutation_p.H586Y|SP140_ENST00000420434.3_Missense_Mutation_p.H690Y|SP140_ENST00000417495.3_Missense_Mutation_p.H603Y|SP140_ENST00000486687.2_Missense_Mutation_p.H641Y	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	717					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGAGGACTGTCACATCCCGCC	0.527000													22	15					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113303232	113303232	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:113303232C>T	ENST00000389385.4	+	6	741	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	RPH3A_ENST00000447659.2_Missense_Mutation_p.R33C|RPH3A_ENST00000543106.2_Missense_Mutation_p.R82C|RPH3A_ENST00000551052.1_Missense_Mutation_p.R78C|RPH3A_ENST00000415485.3_Missense_Mutation_p.R82C|RPH3A_ENST00000548866.1_Missense_Mutation_p.R33C|RPH3A_ENST00000420983.2_Missense_Mutation_p.R82C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	82	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCTGGTGGACCGCCTAGAAAA	0.542000													47	77					0	0	1	0	0
FNTA	2339	broad.mit.edu	37	8	42939930	42939930	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:42939930C>T	ENST00000529687.1	+	8	1358	c.470C>T	c.(469-471)tCc>tTc	p.S157F	FNTA_ENST00000302279.3_Missense_Mutation_p.S308F|FNTA_ENST00000342116.4_Missense_Mutation_p.S241F			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	308					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGTCATAGTTCCCCCTACCTA	0.343000													6	64					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99091253	99091253	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:99091253C>G	ENST00000337673.6	-	3	1788	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	529					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCCCCACATTCAAGACATTTG	0.458000													35	146					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14899713	14899713	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:14899713C>G	ENST00000532378.1	-	6	1616	c.762G>C	c.(760-762)atG>atC	p.M254I	CYP2R1_ENST00000334636.5_Missense_Mutation_p.M487I			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	487					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GCTGCAATGTCATGCCTAACC	0.443000													40	37					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808007	20808007	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:20808007C>T	ENST00000601440.1	-	4	822	c.676G>A	c.(676-678)Gag>Aag	p.E226K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAGGGTTTCTCTCCAGTATGA	0.398000													25	52					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643724	138643724	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:138643724G>A	ENST00000394800.2	+	6	1169	c.620G>A	c.(619-621)cGt>cAt	p.R207H	MATR3_ENST00000509990.1_Missense_Mutation_p.R207H|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394805.3_Missense_Mutation_p.R207H|MATR3_ENST00000510056.1_Missense_Mutation_p.R207H|MATR3_ENST00000361059.2_Missense_Mutation_p.R207H|MATR3_ENST00000502929.1_Missense_Mutation_p.R207H			P43243	MATR3_HUMAN	matrin 3	207						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGGAAGTCGTTCTCAAGAA	0.403000													11	51					0	0	1	0	0
HNRNPH3	3189	broad.mit.edu	37	10	70101390	70101390	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:70101390C>G	ENST00000265866.7	+	8	989	c.824C>G	c.(823-825)tCt>tGt	p.S275C	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.S167C|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.S260C	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	275	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGAGGCGGCTCTGGCATGGGA	0.403000													9	103					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114520466	114520466	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:114520466G>A	ENST00000394779.3	-	3	541	c.297C>T	c.(295-297)ttC>ttT	p.F99F	C9orf84_ENST00000374287.3_Silent_p.F138F|C9orf84_ENST00000394777.4_Silent_p.F99F|C9orf84_ENST00000318737.4_Silent_p.F138F|C9orf84_ENST00000374283.5_Silent_p.F202F	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	138										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTGAAGAGAGAAACATTCCC	0.264000													6	40					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846211	58846211	+	Missense_Mutation	SNP	G	G	A	rs143306274	byFrequency	TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:58846211G>A	ENST00000329665.4	+	2	190	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	15					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCCGTGGGAAGAGGACAGCTT	0.617000													4	24					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54933871	54933871	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:54933871G>A	ENST00000474759.1	+	27	2473	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E809K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E809K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E715K|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	809						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTCCTGGATGAACGGAAATC	0.428000													5	12					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77286712	77286712	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:77286712C>A	ENST00000376896.3	+	9	1731	c.1119C>A	c.(1117-1119)gcC>gcA	p.A373A	RORB_ENST00000396204.2_Silent_p.A384A	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CAGACCGAGCCTGGCTTATAG	0.418000													41	30					2.40228e-13	2.65983e-13	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62897185	62897185	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:62897185C>G	ENST00000512091.2	+	22	3991	c.3244C>G	c.(3244-3246)Ctt>Gtt	p.L1082V	LPHN3_ENST00000514157.1_Missense_Mutation_p.L1073V|LPHN3_ENST00000509896.1_Missense_Mutation_p.L1150V|LPHN3_ENST00000514996.1_Missense_Mutation_p.L1073V|LPHN3_ENST00000504896.1_Missense_Mutation_p.L1082V|LPHN3_ENST00000506700.1_Missense_Mutation_p.L1073V|LPHN3_ENST00000507625.1_Missense_Mutation_p.L1141V|LPHN3_ENST00000507164.1_Missense_Mutation_p.L1141V|LPHN3_ENST00000545650.1_Missense_Mutation_p.L1082V|LPHN3_ENST00000506720.1_Missense_Mutation_p.L1150V|LPHN3_ENST00000514591.1_Missense_Mutation_p.L1082V|LPHN3_ENST00000511324.1_Missense_Mutation_p.L1141V|LPHN3_ENST00000506746.1_Missense_Mutation_p.L1141V|LPHN3_ENST00000508946.1_Missense_Mutation_p.L1082V|LPHN3_ENST00000508693.1_Missense_Mutation_p.L1150V			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCAATAGCTCTTCTCTGCCT	0.358000													13	80					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90074819	90074819	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:90074819G>A	ENST00000405460.2	+	64	13083	c.12987G>A	c.(12985-12987)atG>atA	p.M4329I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4329	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGGGGAGATGAGGAAAAGTC	0.493000													6	40					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183094530	183094530	+	Splice_Site	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:183094530A>G	ENST00000258341.4	+	15	2904		c.e15-1		LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)						axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCTGCCTTAGCCTGCAATT	0.468000													3	49					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17702518	17702518	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:17702518C>G	ENST00000377524.3	+	2	311	c.96C>G	c.(94-96)atC>atG	p.I32M	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	32	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTTTGGATATCTGTGATAAAG	0.398000													9	67					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912251	100912251	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:100912251C>G	ENST00000328766.5	-	5	777	c.324G>C	c.(322-324)caG>caC	p.Q108H	ARMCX2_ENST00000330154.2_Missense_Mutation_p.Q108H|ARMCX2_ENST00000356824.4_Missense_Mutation_p.Q108H	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	108	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTGCCCCACTCTGAGCCTCAG	0.622000													7	36					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78378752	78378752	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:78378752G>A	ENST00000255192.3	+	5	637	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	BHMT2_ENST00000521567.1_Missense_Mutation_p.E127K|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	191	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.E191*(2)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	AACCCCCGGAGAATGTGCTGT	0.473000													25	106					0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36895328	36895328	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:36895328C>A	ENST00000580830.1	-	7	1010	c.309G>T	c.(307-309)ctG>ctT	p.L103L	PCGF2_ENST00000360797.2_Silent_p.L103L|PCGF2_ENST00000581345.1_Silent_p.L103L|PCGF2_ENST00000579882.1_Silent_p.L103L|PCGF2_ENST00000578109.1_Silent_p.L49L|PCGF2_ENST00000585100.1_Silent_p.L103L			P35227	PCGF2_HUMAN	polycomb group ring finger 2	103					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CACCCTCCGTCAGGGGGTACG	0.597000													10	40					1.76689e-08	1.89358e-08	1	1	0
ST8SIA2	8128	broad.mit.edu	37	15	92981732	92981732	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:92981732C>T	ENST00000268164.3	+	4	677	c.440C>T	c.(439-441)tCg>tTg	p.S147L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.S126L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	147					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCAGGACTTCGCCACTGAAG	0.537000													18	75					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42637841	42637841	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:42637841C>T	ENST00000372899.1	+	35	4151	c.3893C>T	c.(3892-3894)tCt>tTt	p.S1298F	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.S1298F	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1298					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATCCCTTATTCTGAGAGCATA	0.383000													7	58					0	0	1	0	0
WRB	7485	broad.mit.edu	37	21	40765135	40765135	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr21:40765135C>A	ENST00000333781.5	+	4	521	c.380C>A	c.(379-381)cCt>cAt	p.P127H	WRB_ENST00000380708.1_Missense_Mutation_p.P93H|WRB_ENST00000541890.1_Missense_Mutation_p.P127H|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000398753.1_Missense_Mutation_p.P93H	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	127						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TATTCTGTCCCTGTGGCTGTC	0.493000													15	50					2.32078e-09	2.50609e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9049098	9049098	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:9049098T>C	ENST00000397910.4	-	5	32736	c.32533A>G	c.(32533-32535)Agt>Ggt	p.S10845G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10847	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGATTTACTATGGAAAAAA	0.483000													29	66					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28611015	28611015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr18:28611015G>T	ENST00000434452.1	-	3	432	c.278C>A	c.(277-279)tCa>tAa	p.S93*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.S93*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	93					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATGGTAAATGATCTTTTCTT	0.403000													32	20					1.06801e-11	1.17564e-11	1	1	0
GOSR1	9527	broad.mit.edu	37	17	28811768	28811768	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:28811768C>T	ENST00000225724.5	+	4	400	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	GOSR1_ENST00000581721.1_Missense_Mutation_p.R110W|GOSR1_ENST00000451249.2_Missense_Mutation_p.R108W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R45W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	110					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						TACATTACAGCGGCATAGAGA	0.393000													5	93					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170724988	170724988	+	Silent	SNP	T	T	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:170724988T>A	ENST00000314251.3	-	5	640	c.561A>T	c.(559-561)gcA>gcT	p.A187A	SLC2A2_ENST00000382808.4_Silent_p.A68A	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	187					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAGTGCCAAGTGCTCCCCTGA	0.458000													18	15					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33538176	33538176	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:33538176C>T	ENST00000228567.3	-	4	1424	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	SYT10_ENST00000535526.1_Silent_p.T195T	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	376	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TACGCCCAGCCGTCGGTAGGT	0.443000													11	63					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273879	10273879	+	Missense_Mutation	SNP	G	G	C	rs1051275		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:10273879G>C	ENST00000254976.2	+	5	445	c.234G>C	c.(232-234)ttG>ttC	p.L78F	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Intron	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	78	t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AAAAGAATTTGACGGACCTAG	0.453000													27	82					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35305141	35305141	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:35305141C>G	ENST00000374748.1	-	19	2179	c.1866G>C	c.(1864-1866)atG>atC	p.M622I	CUL2_ENST00000602371.1_Missense_Mutation_p.M565I|CUL2_ENST00000374749.3_Missense_Mutation_p.M622I|CUL2_ENST00000374742.1_Missense_Mutation_p.M622I|CUL2_ENST00000374746.1_Missense_Mutation_p.M622I|CUL2_ENST00000374751.3_Missense_Mutation_p.M622I|CUL2_ENST00000537177.1_Missense_Mutation_p.M641I			Q13617	CUL2_HUMAN	cullin 2	622					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGGTTAATCATTTTCACAT	0.308000													4	49					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114506127	114506127	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:114506127A>G	ENST00000369558.1	+	10	2454	c.2222A>G	c.(2221-2223)cAg>cGg	p.Q741R	HIPK1_ENST00000426820.2_Missense_Mutation_p.Q741R|HIPK1_ENST00000369553.1_Missense_Mutation_p.Q347R|HIPK1_ENST00000406344.1_Missense_Mutation_p.Q347R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q707R|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000340480.4_Missense_Mutation_p.Q367R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q741R|HIPK1_ENST00000369554.2_Intron			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGTTGAACAGACTGCCGCT	0.498000													9	45					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58124614	58124614	+	Silent	SNP	G	G	A	rs142624882	byFrequency	TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:58124614G>A	ENST00000257897.3	-	11	1345	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	AGAP2_ENST00000547588.1_Silent_p.L756L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	756	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGTCCTTGACGAGCCCGTTAA	0.587000													4	36					0	0	1	0	0
TUBB2A	7280	broad.mit.edu	37	6	3155942	3155942	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:3155942A>G	ENST00000333628.3	-	3	256	c.194T>C	c.(193-195)cTg>cCg	p.L65P	TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	65					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CAGATCCACCAGGATGGCCCG	0.522000													13	45					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012660	59012660	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:59012660A>G	ENST00000263093.2	-	4	1284	c.1175T>C	c.(1174-1176)aTt>aCt	p.I392T	SLC27A5_ENST00000601355.1_Missense_Mutation_p.I308T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	392					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACCTGGGGAATGTTACACAA	0.512000													18	163					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85623614	85623614	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:85623614C>T	ENST00000322366.6	-	55	8844	c.8437G>A	c.(8437-8439)Gag>Aag	p.E2813K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2830K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2830	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACCAGGCCTCGCGCACACTG	0.463000													5	26					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333993	220333993	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:220333993A>G	ENST00000312358.7	+	13	3739	c.3607A>G	c.(3607-3609)Aag>Gag	p.K1203E	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1203	Ig-like 6.				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)		GGGACTGGCCAAGGAGGCCAT	0.647000													16	8					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37024740	37024740	+	Silent	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:37024740T>C	ENST00000282516.8	+	30	6127	c.5628T>C	c.(5626-5628)tgT>tgC	p.C1876C	NIPBL_ENST00000448238.2_Silent_p.C1876C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1876					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAGACATTTGTATTGAACAAC	0.333000													8	141					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48170614	48170614	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:48170614C>T	ENST00000381501.3	-	6	641	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	162					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TTCTTTGTTTCTGGTGCTGGA	0.318000													4	49					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206921343	206921343	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:206921343C>G	ENST00000403263.1	-	4	947	c.543G>C	c.(541-543)caG>caC	p.Q181H		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	181					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGTCTCTCTCTGGCGCTGCC	0.507000													10	8					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60549181	60549181	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:60549181G>C	ENST00000373886.3	+	7	764	c.760G>C	c.(760-762)Gta>Cta	p.V254L		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	254					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TACTGTCATAGTACGAGGGTC	0.358000													11	126					0	0	1	0	0
BMP8B	656	broad.mit.edu	37	1	40229432	40229432	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:40229432G>C	ENST00000372827.3	-	5	1275	c.900C>G	c.(898-900)gtC>gtG	p.V300V	PPIE_ENST00000372830.1_3'UTR|BMP8B_ENST00000397360.2_Silent_p.V325V|PPIE_ENST00000356511.2_3'UTR	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	300					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCGACGGCAGACCTGCCGGC	0.567000													15	83					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397402	42397402	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:42397402C>G	ENST00000225308.8	-	12	1197	c.1023G>C	c.(1021-1023)caG>caC	p.Q341H	SLC25A39_ENST00000590194.1_Missense_Mutation_p.Q341H|SLC25A39_ENST00000377095.5_Missense_Mutation_p.Q349H|SLC25A39_ENST00000537904.2_Missense_Mutation_p.Q326H|SLC25A39_ENST00000586016.1_Missense_Mutation_p.Q217H	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	349					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGTTCAGCCTCTGGAAGAAGC	0.612000													6	65					0	0	1	0	0
LITAF	9516	broad.mit.edu	37	16	11650543	11650543	+	Missense_Mutation	SNP	G	G	A	rs138041990		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:11650543G>A	ENST00000571688.1	-	2	274	c.44C>T	c.(43-45)tCa>tTa	p.S15L	LITAF_ENST00000576036.1_Missense_Mutation_p.S15L|LITAF_ENST00000570904.1_Missense_Mutation_p.S15L|LITAF_ENST00000413364.2_Missense_Mutation_p.S15L|LITAF_ENST00000381810.3_Missense_Mutation_p.S15L|LITAF_ENST00000339430.5_Missense_Mutation_p.S15L|LITAF_ENST00000571976.1_Missense_Mutation_p.S15L|LITAF_ENST00000574703.1_Missense_Mutation_p.S15L|LITAF_ENST00000571459.1_Missense_Mutation_p.S15L|LITAF_ENST00000574763.1_Missense_Mutation_p.S15L|LITAF_ENST00000572255.1_Intron	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	15					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						GGATGGTGCTGAGGAAGGCCC	0.517000													7	61					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160710209	160710209	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:160710209C>G	ENST00000263636.4	-	19	2623		c.e19-1		LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CACCAGATATCTGAAAAACAA	0.353000													34	32					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55727166	55727166	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:55727166C>T	ENST00000321149.3	-	8	1351	c.984G>A	c.(982-984)ttG>ttA	p.L328L	DYX1C1_ENST00000348518.3_Silent_p.L328L|DYX1C1_ENST00000448430.2_Silent_p.L328L|DYX1C1_ENST00000457155.2_Silent_p.L328L|DYX1C1_ENST00000380679.1_Silent_p.L328L|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	328					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CAGCCCGGTTCAAATACAATA	0.333000													21	90					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231174716	231174716	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:231174716C>T	ENST00000392045.3	+	23	2250	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	SP140_ENST00000343805.6_Silent_p.F652F|SP140_ENST00000350136.5_Silent_p.F581F|SP140_ENST00000420434.3_Silent_p.F685F|SP140_ENST00000417495.3_Silent_p.F598F|SP140_ENST00000486687.2_Silent_p.F636F	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	712					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAAGAGTCTTCCATGAGGACT	0.517000													30	16					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29670104	29670104	+	Silent	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:29670104C>G	ENST00000358273.4	+	48	7523	c.7140C>G	c.(7138-7140)ctC>ctG	p.L2380L	NF1_ENST00000417592.2_Silent_p.L93L|NF1_ENST00000444181.2_Silent_p.L173L|NF1_ENST00000356175.3_Silent_p.L2359L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2380					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGTTGGACTCAATTTCAACT	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			47	44					0	0	1	0	0
ZNF581	51545	broad.mit.edu	37	19	56156487	56156487	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:56156487G>C	ENST00000587252.1	+	2	823	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	ZNF581_ENST00000588537.1_Missense_Mutation_p.E184Q|ZNF581_ENST00000270451.5_Missense_Mutation_p.E184Q			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGCTTTATGGAGCAGAACAC	0.652000													12	88					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113593169	113593169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:113593169C>A	ENST00000263341.2	-	3	283	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	25					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CCATCAGCTTCAAAGAACAAG	0.423000													7	69					8.12818e-05	8.33359e-05	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107703265	107703265	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:107703265G>A	ENST00000388781.3	-	23	3319	c.3236C>T	c.(3235-3237)tCa>tTa	p.S1079L	LAMB4_ENST00000205386.4_Missense_Mutation_p.S1079L|LAMB4_ENST00000388780.3_Missense_Mutation_p.S1079L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1079	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACAGTCACATGACTGACATCC	0.507000													15	18					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71631937	71631937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:71631937C>T	ENST00000356340.3	+	3	906	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	COL13A1_ENST00000398978.3_Intron|COL13A1_ENST00000398966.3_Nonsense_Mutation_p.Q124*|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398971.3_Nonsense_Mutation_p.Q124*|COL13A1_ENST00000398968.3_Nonsense_Mutation_p.Q124*|COL13A1_ENST00000398974.3_Nonsense_Mutation_p.Q124*|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398964.3_Nonsense_Mutation_p.Q124*|COL13A1_ENST00000398972.3_Intron			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	124	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTCTTCATTTCAGGGTCCCAC	0.483000													7	21					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160235764	160235764	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:160235764G>A	ENST00000264431.4	+	3	633	c.214G>A	c.(214-216)Gat>Aat	p.D72N	RAPGEF2_ENST00000504604.1_3'UTR	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	72					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGAGGCTGGTGATATGGACCT	0.448000													4	13					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98548574	98548574	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:98548574C>T	ENST00000359863.4	+	38	5598	c.5389C>T	c.(5389-5391)Ccc>Tcc	p.P1797S	TRRAP_ENST00000355540.3_Missense_Mutation_p.P1779S|TRRAP_ENST00000446306.3_Missense_Mutation_p.P1778S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1797					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGGGACCTCCCAATCCAGA	0.438000													5	201					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686499	3686499	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:3686499C>T	ENST00000344754.4	-	3	597	c.598G>A	c.(598-600)Gag>Aag	p.E200K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E200K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	200	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGGTCTCCAGGTGGCCG	0.642000													10	85					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217727	97217727	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:97217727C>G	ENST00000454558.2	+	7	2435	c.1258C>G	c.(1258-1260)Ctg>Gtg	p.L420V	ARID5A_ENST00000357485.3_Missense_Mutation_p.L488V			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	488					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CTCCTGCCTTCTGGGCCCAGC	0.667000													3	25					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78166339	78166339	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:78166339G>T	ENST00000573882.1	+	11	1813	c.1277G>T	c.(1276-1278)cGg>cTg	p.R426L	CARD14_ENST00000570421.1_Missense_Mutation_p.R426L|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.R189L|CARD14_ENST00000344227.2_Missense_Mutation_p.R426L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	426					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCCTGTCCACGGGAGAAGCAG	0.637000													6	59					2.7689e-08	2.95626e-08	1	1	0
HNF4A	3172	broad.mit.edu	37	20	43047092	43047092	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:43047092G>A	ENST00000316099.4	+	6	765	c.676G>A	c.(676-678)Gag>Aag	p.E226K	HNF4A_ENST00000457232.1_Missense_Mutation_p.E204K|HNF4A_ENST00000609795.1_Missense_Mutation_p.E204K|HNF4A_ENST00000316673.4_Missense_Mutation_p.E204K|HNF4A_ENST00000415691.2_Missense_Mutation_p.E226K|HNF4A_ENST00000443598.2_Missense_Mutation_p.E226K	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCATGCTGGCGAGCACCTGCT	0.622000													37	107					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57440403	57440403	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:57440403C>T	ENST00000442789.2	-	9	860	c.573G>A	c.(571-573)caG>caA	p.Q191Q	MYO1A_ENST00000300119.3_Silent_p.Q191Q|MYO1A_ENST00000544473.1_Silent_p.Q29Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	191	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCCTTTGAGCTGCTTCACTA	0.493000													45	58					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53268444	53268444	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:53268444C>G	ENST00000396435.3	-	11	3248	c.3048G>C	c.(3046-3048)ttG>ttC	p.L1016F	IQSEC2_ENST00000375365.2_Missense_Mutation_p.L811F|IQSEC2_ENST00000375368.5_Missense_Mutation_p.L1006F	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1006	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGTACGTCACCAAGATCTTCT	0.507000											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	14					0	0	1	0	0
RNASEH2C	84153	broad.mit.edu	37	11	65488224	65488224	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:65488224C>G	ENST00000308418.4	-	1	194	c.6G>C	c.(4-6)gaG>gaC	p.E2D	RNASEH2C_ENST00000527610.1_Missense_Mutation_p.E2D|RNASEH2C_ENST00000528220.1_5'UTR	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	2					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						CGTCGCCGCTCTCCATCCTCC	0.697000													3	14					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:37430948C>G	ENST00000374660.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423000													4	91					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151868429	151868429	+	Splice_Site	SNP	T	T	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:151868429T>G	ENST00000355193.2	-	40	9593		c.e40-2		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		AAAGGGAACCTGTCAAAACAG	0.408000													5	33					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147096640	147096640	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:147096640G>T	ENST00000234739.3	+	10	4901	c.4161G>T	c.(4159-4161)atG>atT	p.M1387I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1387					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)					TGCAGGGCATGATGGGACCCC	0.632000			T	"""IGH@, IGL@"""	B-ALL								4	12					0.00909568	0.00917646	1	1	0
KIF24	347240	broad.mit.edu	37	9	34257709	34257709	+	Silent	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:34257709G>T	ENST00000379166.2	-	11	2015	c.1896C>A	c.(1894-1896)ggC>ggA	p.G632G	KIF24_ENST00000345050.2_Silent_p.G498G|KIF24_ENST00000402558.2_Silent_p.G632G|KIF24_ENST00000379174.3_Silent_p.G498G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	632					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCCTCTGGAGCCACCCCTTT	0.537000													7	24					8.12818e-05	8.33359e-05	1	1	0
VHL	7428	broad.mit.edu	37	3	10183869	10183869	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:10183869G>A	ENST00000256474.2	+	1	1178	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	VHL_ENST00000345392.2_Missense_Mutation_p.R113Q	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	113	Involved in binding to CCT complex.				anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.Y112fs*1(2)|p.?(1)|p.S111fs*45(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACAGCTACCGAGGTACGGGC	0.692000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				4	18					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5653166	5653166	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:5653166G>C	ENST00000292123.5	+	10	1441	c.1334G>C	c.(1333-1335)gGa>gCa	p.G445A	SAFB_ENST00000433404.1_Missense_Mutation_p.G275A|SAFB_ENST00000454510.1_Missense_Mutation_p.G376A|SAFB_ENST00000592224.1_Missense_Mutation_p.G445A|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000538656.1_Missense_Mutation_p.G288A|SAFB_ENST00000588852.1_Missense_Mutation_p.G445A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	445	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGGAGTCCTGGAGCTCGCTGT	0.542000													17	26					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725016	158725016	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:158725016C>T	ENST00000368144.2	+	1	507	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CACTTGGTATCACAGAAAGCT	0.493000													14	18					0	0	1	0	0
SLURP1	57152	broad.mit.edu	37	8	143822579	143822579	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:143822579G>C	ENST00000246515.1	-	3	319	c.294C>G	c.(292-294)ctC>ctG	p.L98L		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	98					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCGAGTTGCAGAGGTCTCGGA	0.672000													4	27					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67369109	67369109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:67369109C>A	ENST00000396623.3	+	11	1075	c.1044C>A	c.(1042-1044)taC>taA	p.Y348*	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Nonsense_Mutation_p.Y300*	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	348					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAAAGGATTACAATGTGGATC	0.303000													18	31					1.45105e-14	1.61925e-14	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57440686	57440686	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:57440686C>T	ENST00000442789.2	-	8	789	c.502G>A	c.(502-504)Gac>Aac	p.D168N	MYO1A_ENST00000300119.3_Missense_Mutation_p.D168N|MYO1A_ENST00000544473.1_Missense_Mutation_p.D6N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	168	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCCTTGAAGTCAAATTCAATA	0.522000													27	29					0	0	1	0	0
EPGN	255324	broad.mit.edu	37	4	75178020	75178020	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:75178020C>T	ENST00000413830.1	+	3	313	c.252C>T	c.(250-252)tgC>tgT	p.C84C	EPGN_ENST00000509145.1_Silent_p.C54C|EPGN_ENST00000332112.4_Silent_p.C75C|EPGN_ENST00000514968.1_Silent_p.C75C|EPGN_ENST00000502358.1_Silent_p.C84C|EPGN_ENST00000505212.1_Silent_p.C75C|EPGN_ENST00000503098.1_Silent_p.C84C	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	84	EGF-like.				activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			AAGCCATCTGCAGGTAAATGC	0.408000													10	101					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28758884	28758884	+	Silent	SNP	A	A	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:28758884A>T	ENST00000225719.4	+	8	2188	c.2112A>T	c.(2110-2112)gcA>gcT	p.A704A	CPD_ENST00000543464.2_Silent_p.A457A	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	704	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AACAAATAGCACTTTCTTATT	0.328000													13	89					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63938787	63938787	+	Silent	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:63938787C>G	ENST00000260118.6	-	5	831	c.429G>C	c.(427-429)ctG>ctC	p.L143L	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	143	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	CTCCACTAATCAGCAGTGAAA	0.418000													23	66					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29393880	29393880	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:29393880C>T	ENST00000558402.1	+	11	2016	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	APBA2_ENST00000558330.1_Missense_Mutation_p.R461C|APBA2_ENST00000558259.1_Missense_Mutation_p.R473C|APBA2_ENST00000561069.1_Missense_Mutation_p.R473C|APBA2_ENST00000411764.1_Missense_Mutation_p.R461C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	473	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GATGGCCAGACGCCGCATGCC	0.587000													6	15					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79685800	79685800	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:79685800G>A	ENST00000261205.4	+	6	1021	c.364G>A	c.(364-366)Gat>Aat	p.D122N	SYT1_ENST00000552744.1_Missense_Mutation_p.D122N|SYT1_ENST00000457153.2_Missense_Mutation_p.D119N|SYT1_ENST00000393240.3_Missense_Mutation_p.D122N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	122					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCTCAAGGATGATGATGCTGA	0.393000													5	75					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78324319	78324319	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:78324319G>C	ENST00000255189.3	-	12	1997	c.1969C>G	c.(1969-1971)Ctt>Gtt	p.L657V	DMGDH_ENST00000380311.4_Missense_Mutation_p.L456V|DMGDH_ENST00000540686.1_Missense_Mutation_p.L277V	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	657					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.L657F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTGGTTTGAAGAAACTTGAAA	0.408000													31	64					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33012108	33012108	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:33012108G>A	ENST00000317907.4	+	16	2121	c.1890G>A	c.(1888-1890)caG>caA	p.Q630Q		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	630							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AACACTGGCAGATTTGGGAAA	0.378000													12	78					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2124333	2124333	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:2124333C>G	ENST00000219476.3	+	22	3118	c.2488C>G	c.(2488-2490)Ctc>Gtc	p.L830V	TSC2_ENST00000353929.4_Missense_Mutation_p.L830V|TSC2_ENST00000401874.2_Missense_Mutation_p.L830V|TSC2_ENST00000350773.4_Missense_Mutation_p.L830V|TSC2_ENST00000439673.2_Missense_Mutation_p.L793V|TSC2_ENST00000382538.6_Missense_Mutation_p.L781V|TSC2_ENST00000568454.1_Missense_Mutation_p.L841V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	830					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGTGGTGAAGCTCACGCACAT	0.632000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	44					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911850	88911850	+	Missense_Mutation	SNP	G	G	T	rs61754368		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:88911850G>T	ENST00000263321.5	+	1	1231	c.729G>T	c.(727-729)aaG>aaT	p.K243N	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	243			K -> T (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATGCAGAAAAGTGTGACATTT	0.468000													13	201					1.96292e-10	2.14412e-10	1	1	0
PLEC	5339	broad.mit.edu	37	8	144994694	144994694	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:144994694C>G	ENST00000322810.4	-	32	9875	c.9706G>C	c.(9706-9708)Gag>Cag	p.E3236Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E3077Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3085Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3067Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3099Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3099Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3122Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3103Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3126Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3236	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						ACAGCCTTCTCGGCTGATAGC	0.662000													3	32					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36160435	36160435	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:36160435G>C	ENST00000303965.4	-	15	3158	c.2669C>G	c.(2668-2670)tCc>tGc	p.S890C		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	890	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTGGACTGGGAAGACTCTTG	0.343000													6	33					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20854309	20854309	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:20854309C>T	ENST00000381552.1	+	3	555	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	SLCO1C1_ENST00000545604.1_Silent_p.L63L|SLCO1C1_ENST00000266509.2_Silent_p.L63L|SLCO1C1_ENST00000540354.1_Silent_p.L63L|SLCO1C1_ENST00000545102.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	63					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AGAAGGCTATCTGAAGAGCAC	0.418000													25	33					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263408	140263408	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:140263408G>T	ENST00000289272.2	+	1	1555	c.1555G>T	c.(1555-1557)Gcg>Tcg	p.A519S	PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A519S|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGTGTACGCGCTGCAGCC	0.687000													38	102					4.10981e-09	4.42116e-09	1	1	0
GPR183	1880	broad.mit.edu	37	13	99947382	99947382	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr13:99947382C>T	ENST00000376414.4	-	2	1101	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	340					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GAATTTTCTTCAGGGGCTGAC	0.378000													13	52					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527623	65527623	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:65527623G>A	ENST00000310193.3	-	4	1190	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	339					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGGTGAGGTGGATGGGAAATC	0.443000													26	77					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27945287	27945287	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr21:27945287G>T	ENST00000435845.2	-	1	316	c.297C>A	c.(295-297)ttC>ttA	p.F99L	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	140						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGCTTGGAGCGAAGGGAGAGC	0.642000													10	21					1.76689e-08	1.89358e-08	1	1	0
PLIN1	5346	broad.mit.edu	37	15	90210391	90210391	+	Nonsense_Mutation	SNP	G	G	A	rs147317847		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:90210391G>A	ENST00000300055.5	-	8	1150	c.985C>T	c.(985-987)Cga>Tga	p.R329*	PLIN1_ENST00000430628.2_Nonsense_Mutation_p.R329*	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	329					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						AGGAGGCCTCGAGGGCCTGGC	0.662000													10	54					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426306	116426306	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:116426306C>T	ENST00000395715.3	-	7	4407	c.3830G>A	c.(3829-3831)aGg>aAg	p.R1277K	TRPS1_ENST00000519076.1_Missense_Mutation_p.R1018K|TRPS1_ENST00000220888.5_Missense_Mutation_p.R1264K|TRPS1_ENST00000520276.1_Missense_Mutation_p.R1268K	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1264	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGCAGGCCCCTCTGGATATG	0.408000									Langer-Giedion syndrome				90	175					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403697	54403697	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:54403697C>T	ENST00000263431.3	+	13	1680	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	PRKCG_ENST00000542049.1_Silent_p.I353I|PRKCG_ENST00000540413.1_Silent_p.I466I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	466	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		AAATCGCTATCGGCCTCTTCT	0.577000													7	29					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981932	44981932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:44981932G>A	ENST00000221327.4	-	5	1047	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	ZNF180_ENST00000391956.4_Nonsense_Mutation_p.Q231*|ZNF180_ENST00000592529.1_Nonsense_Mutation_p.Q229*	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAATGCTCTGAGGGGGTTTT	0.353000													18	109					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16967615	16967615	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:16967615C>G	ENST00000377833.4	-	42	6495	c.6430G>C	c.(6430-6432)Gat>Cat	p.D2144H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2144	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAGAAGAATCTCCATTTGGA	0.433000													14	30					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849211	117849211	+	Silent	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:117849211A>G	ENST00000350763.4	-	3	1210	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L	TNC_ENST00000542877.1_Silent_p.L267L|TNC_ENST00000345230.3_Silent_p.L267L|TNC_ENST00000341037.4_Silent_p.L267L|TNC_ENST00000346706.3_Silent_p.L267L|TNC_ENST00000537320.1_Silent_p.L267L|TNC_ENST00000340094.3_Silent_p.L267L|TNC_ENST00000423613.2_Silent_p.L267L|TNC_ENST00000535648.1_Silent_p.L267L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	267	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACACACACAAGCCATCTACA	0.562000													11	52					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29992979	29992979	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:29992979T>A	ENST00000416441.2	+	1	1307	c.134T>A	c.(133-135)gTa>gAa	p.V45E	TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000308893.4_Intron			Q9UL54	TAOK2_HUMAN	TAO kinase 2	218	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTTTTTCTGTAGCTGAACGG	0.498000													4	81					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53208278	53208278	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:53208278C>G	ENST00000262593.5	+	5	883	c.533C>G	c.(532-534)tCt>tGt	p.S178C	DOK5_ENST00000395939.1_Missense_Mutation_p.S70C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	178	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			AAACTCATCTCTTGGCCGCTA	0.458000													10	84					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40581972	40581972	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr21:40581972G>C	ENST00000342449.3	-	36	4224	c.4146C>G	c.(4144-4146)atC>atG	p.I1382M	BRWD1_ENST00000380800.3_Missense_Mutation_p.I1382M|BRWD1_ENST00000333229.2_Missense_Mutation_p.I1382M	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1382	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATATCAGCCGGATGTCTTTGC	0.363000													20	46					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420837	11420837	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:11420837G>C	ENST00000279573.7	-	3	481	c.346C>G	c.(346-348)Cgt>Ggt	p.R116G	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.R116G|PRB3_ENST00000538488.1_Missense_Mutation_p.R116G			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637000													16	163					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46825935	46825935	+	Silent	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:46825935A>G	ENST00000283296.7	-	17	3993	c.3705T>C	c.(3703-3705)ggT>ggC	p.G1235G	GPR116_ENST00000265417.7_Silent_p.G1235G|GPR116_ENST00000362015.4_Silent_p.G1235G|GPR116_ENST00000456426.2_Silent_p.G1093G|GPR116_ENST00000545669.1_Silent_p.G664G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1235					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAGTGGTGAGACCAAAACCCC	0.507000													10	74					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324964	31324964	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr18:31324964G>A	ENST00000269197.5	+	12	5152	c.5152G>A	c.(5152-5154)Gag>Aag	p.E1718K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCCATGGAAGAGGCTATTTC	0.567000													8	67					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802697	159802697	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:159802697C>G	ENST00000289707.5	+	3	548	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.F24L	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	133	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TACAAGTGTTCATTGCTGTAG	0.562000													119	63					0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108098457	108098457	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:108098457G>A	ENST00000412830.3	+	11	1178	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	PWP1_ENST00000541166.1_Missense_Mutation_p.R275Q	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	337					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAAGCCATCGAATGTGGCGA	0.408000													4	67					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457504	110457504	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:110457504G>A	ENST00000378402.5	+	38	5510	c.5406G>A	c.(5404-5406)gtG>gtA	p.V1802V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1802	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGCTCTTGTGACTCCTCTCC	0.468000										HNSCC(38;0.096)			37	57					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82433742	82433742	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:82433742C>G	ENST00000370728.1	+	16	3015	c.2370C>G	c.(2368-2370)ttC>ttG	p.F790L	LPHN2_ENST00000394879.1_Missense_Mutation_p.F777L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F790L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F715L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F790L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F777L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F777L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F777L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.F790L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F790L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F777L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F790L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F790L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F777L			O95490	LPHN2_HUMAN	latrophilin 2	790	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTGCTCCTTCTGGAACTACT	0.393000													11	72					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805804	27805804	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:27805804T>G	ENST00000330180.2	-	1	313	c.314A>C	c.(313-315)cAg>cCg	p.Q105P		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	105					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GACACCACCCTGGGCGATGGT	0.587000													27	112					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100020192	100020192	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:100020192C>T	ENST00000258428.3	-	19	3360	c.3132G>A	c.(3130-3132)gaG>gaA	p.E1044E	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.E1043E	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1044					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTGCTGTTCTCGCCCTGCC	0.493000								Direct reversal of damage					12	402					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121554181	121554181	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:121554181C>T	ENST00000273668.2	+	1	120	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	EAF2_ENST00000451944.2_Missense_Mutation_p.L17F|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	17	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CGAGCGGGTTCTCAAGTTAGG	0.587000													3	30					0	0	1	0	0
CLDN23	137075	broad.mit.edu	37	8	8560286	8560286	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:8560286C>T	ENST00000519106.1	+	1	839	c.378C>T	c.(376-378)ctC>ctT	p.L126L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	126					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TCGCTGGCCTCCTCGGCCTCA	0.701000													7	35					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189680	59189680	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:59189680C>T	ENST00000302040.4	-	1	769	c.747G>A	c.(745-747)gtG>gtA	p.V249V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AGAAGAGGGTCACAGCAGTCA	0.483000													4	44					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96277122	96277122	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr13:96277122T>C	ENST00000347108.3	-	6	1304	c.872A>G	c.(871-873)gAa>gGa	p.E291G	DZIP1_ENST00000361396.2_Missense_Mutation_p.E291G|DZIP1_ENST00000376829.2_Missense_Mutation_p.E291G|DZIP1_ENST00000361156.3_Missense_Mutation_p.E291G			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	291					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTTTTCTTCTTCTTTCCACCT	0.294000													14	18					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11925030	11925030	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:11925030C>T	ENST00000256720.2	+	9	1362	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	LPIN1_ENST00000449576.2_Silent_p.L508L|LPIN1_ENST00000425416.2_Silent_p.L429L|LPIN1_ENST00000396097.1_Silent_p.L153L|LPIN1_ENST00000396099.1_Silent_p.L465L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	423					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTTCCGGACTCGCAAAACATG	0.632000											OREG0014445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	27					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29812790	29812790	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:29812790G>A	ENST00000375398.2	-	17	3202	c.2753C>T	c.(2752-2754)tCg>tTg	p.S918L	SVIL_ENST00000375400.3_Missense_Mutation_p.S492L|SVIL_ENST00000355867.4_Missense_Mutation_p.S918L			O95425	SVIL_HUMAN	supervillin	918					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGAGAGTCCGAATTTTCTAT	0.453000													15	98					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38318275	38318275	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:38318275G>A	ENST00000264645.7	+	5	703	c.477G>A	c.(475-477)gaG>gaA	p.E159E		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	159	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCCTGTGGAGAACAAAGTGG	0.463000													4	49					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563277	22563277	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:22563277G>A	ENST00000419308.2	-	2	787	c.603C>T	c.(601-603)ttC>ttT	p.F201F	FOXA2_ENST00000377115.4_Silent_p.F195F	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	201					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCTGCCGGTAGAAGGGGAAGA	0.597000													11	101					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309628	89309628	+	RNA	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:89309628G>T	ENST00000493819.1	-	0	259																											TAGATCAGGAGCTTAGGGGCT	0.517000													17	212					4.96729e-08	5.29347e-08	1	1	0
FBN1	2200	broad.mit.edu	37	15	48739011	48739011	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:48739011C>T	ENST00000316623.5	-	47	6135	c.5680G>A	c.(5680-5682)Gaa>Aaa	p.E1894K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1894	EGF-like 32; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTTTCACATTCATTTATGTCT	0.403000													7	77					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45401813	45401813	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:45401813C>T	ENST00000389039.6	-	11	1528	c.1143G>A	c.(1141-1143)ctG>ctA	p.L381L	DUOX2_ENST00000603300.1_Silent_p.L381L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	381	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGTACTGTTCAGATTGGGGT	0.517000													28	61					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666842	77666842	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:77666842C>T	ENST00000461745.1	+	22	4372	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1158W|ROBO2_ENST00000487694.3_Missense_Mutation_p.R1174W	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1158					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCATCCCCACGGGAAGAGAT	0.478000													22	36					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56077178	56077178	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:56077178C>G	ENST00000373965.2	-	8	1123	c.729G>C	c.(727-729)gaG>gaC	p.E243D	PCDH15_ENST00000395432.2_Missense_Mutation_p.E206D|PCDH15_ENST00000395445.1_Missense_Mutation_p.E243D|PCDH15_ENST00000414778.1_Missense_Mutation_p.E248D|PCDH15_ENST00000320301.6_Missense_Mutation_p.E243D|PCDH15_ENST00000395430.1_Missense_Mutation_p.E243D|PCDH15_ENST00000373957.3_Missense_Mutation_p.E221D|PCDH15_ENST00000361849.3_Missense_Mutation_p.E243D|PCDH15_ENST00000395446.1_Missense_Mutation_p.E243D|PCDH15_ENST00000395433.1_Missense_Mutation_p.E221D|PCDH15_ENST00000395442.1_Missense_Mutation_p.E243D|PCDH15_ENST00000395440.1_Missense_Mutation_p.E243D|PCDH15_ENST00000373955.1_Missense_Mutation_p.E243D|PCDH15_ENST00000437009.1_Missense_Mutation_p.E243D|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E243D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	243	Cadherin 2.				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)				TGGTTCGCCTCTCATTCAGAT	0.473000										HNSCC(58;0.16)			31	92					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33510785	33510785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:33510785G>A	ENST00000265371.4	-	9	1669	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	NRP1_ENST00000374867.2_Nonsense_Mutation_p.Q382*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.Q382*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.Q382*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.Q382*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.Q382*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.Q382*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.Q382*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.Q201*			O14786	NRP1_HUMAN	neuropilin 1	382	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTGTTTCCCTGAAAGAGCTGT	0.393000													35	72					0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125648651	125648651	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:125648651G>C	ENST00000358524.3	-	1	63	c.18C>G	c.(16-18)ctC>ctG	p.L6L	PATE2_ENST00000436890.2_Silent_p.L6L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	6						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CTGTGCCCAGGAGAAAGAGAA	0.517000													3	29					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288830	77288830	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:77288830C>G	ENST00000388914.3	-	11	1599	c.1447G>C	c.(1447-1449)Gag>Cag	p.E483Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	483										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTGTCAACTCTTCTACTACT	0.453000													39	61					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738728	138738728	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:138738728G>A	ENST00000242351.5	-	11	2617	c.2301C>T	c.(2299-2301)ctC>ctT	p.L767L	ZC3HAV1_ENST00000464606.1_Silent_p.L889L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	767	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTTATCCAGGAGCTCTGAGT	0.353000													18	131					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052289	55052289	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:55052289T>C	ENST00000474759.1	+	35	2980	c.2932T>C	c.(2932-2934)Tct>Cct	p.S978P	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S978P|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S978P|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S884P|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	978						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGCATTCGTCTCTGAGCGCAC	0.483000													4	30					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730300	15730300	+	RNA	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:15730300G>A	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ATTCATGTCAGATGCCATTAC	0.532000													10	48					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64520631	64520631	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:64520631G>A	ENST00000164139.3	-	12	1830	c.1432C>T	c.(1432-1434)Cat>Tat	p.H478Y	PYGM_ENST00000377432.3_Missense_Mutation_p.H390Y	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	478					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)	TGGAACTTATGAGGCTCCAGC	0.587000													78	134					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048822	9048822	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:9048822G>C	ENST00000397910.4	-	5	33012	c.32809C>G	c.(32809-32811)Ctg>Gtg	p.L10937V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10939	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L6570V(1)|p.L10937V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTGACCAGAGAGGTCACC	0.498000													10	57					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41148208	41148208	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:41148208G>C	ENST00000344051.4	+	9	1518	c.1284G>C	c.(1282-1284)aaG>aaC	p.K428N	SPINT1_ENST00000431806.1_Missense_Mutation_p.K412N|SPINT1_ENST00000562057.1_Missense_Mutation_p.K412N			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	428	BPTI/Kunitz inhibitor 2.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ACGGCAACAAGAACAACTTTG	0.572000													7	90					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20016946	20016946	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:20016946G>T	ENST00000377340.2	-	15	2471	c.2440C>A	c.(2440-2442)Cct>Act	p.P814T	CRNKL1_ENST00000536226.1_Missense_Mutation_p.P653T|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.P802T	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	814					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTGAGGTTAGGTTGGTTGGCA	0.458000													10	71					3.86212e-05	3.97407e-05	1	1	0
BBS10	79738	broad.mit.edu	37	12	76740245	76740245	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:76740245G>C	ENST00000393262.3	-	2	1603	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	507					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TGTGGGGGTTGAATACGGAAT	0.338000									Bardet-Biedl syndrome				15	154					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67079357	67079357	+	Nonstop_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:67079357G>C	ENST00000308127.4	+	14	2157	c.1979G>C	c.(1978-1980)tGa>tCa	p.*660S	SSH3_ENST00000308298.7_Nonstop_Mutation_p.*395S|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	0					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)			GGCGAGGCCTGAGCCCTCACA	0.617000													5	48					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48170606	48170606	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:48170606C>T	ENST00000381501.3	-	6	649	c.492G>A	c.(490-492)aaG>aaA	p.K164K		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	164					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CACCTACCTTCTTTGTTTCTG	0.323000													4	46					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	458068	458068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:458068G>A	ENST00000512944.1	+	6	1407	c.1218G>A	c.(1216-1218)tgG>tgA	p.W406*	EXOC3_ENST00000315013.5_Nonsense_Mutation_p.W406*	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	417					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGAAAGACTGGGTCAAAGAGA	0.532000													3	36					0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100035000	100035000	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:100035000C>G	ENST00000394144.4	+	16	1663	c.1656C>G	c.(1654-1656)ttC>ttG	p.F552L	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.F537L|TBC1D23_ENST00000475134.1_Missense_Mutation_p.F415L	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	552						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGCCTGTTTTCAGCATTGGGG	0.428000													7	26					0	0	1	0	0
CHTF8	54921	broad.mit.edu	37	16	69154505	69154505	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:69154505G>A	ENST00000448552.2	-	4	310	c.189C>T	c.(187-189)atC>atT	p.I63I	CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000398235.2_Silent_p.I63I|CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000523421.1_Intron	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	63					cell cycle|DNA replication	nucleus	DNA binding										CCAGGTGGATGATTTTCCCAT	0.537000													49	44					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67914742	67914742	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:67914742G>A	ENST00000358933.5	+	18	2619	c.2380G>A	c.(2380-2382)Ggg>Agg	p.G794R		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	794					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCCCAGCTCGGGCTTGATGG	0.672000													11	75					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408074	47408074	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:47408074G>A	ENST00000398879.1	-	17	2535	c.2169C>T	c.(2167-2169)ctC>ctT	p.L723L	TNS3_ENST00000355730.3_Silent_p.L483L|TNS3_ENST00000311160.9_Silent_p.L723L			Q68CZ2	TENS3_HUMAN	tensin 3	723						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTGGCTACCGAGGGCGTTCA	0.652000													9	103					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116534536	116534536	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:116534536G>A	ENST00000281928.3	-	4	623	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	139					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAATCCTAACGAAGTTCTTAT	0.368000													18	90					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53363712	53363712	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:53363712C>G	ENST00000229416.6	-	16	2239	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	586					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TGCTTGTAGTCAGGATGGTTT	0.393000													22	143					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18940093	18940093	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:18940093C>T	ENST00000377304.4	-	1	458	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	RP11-139J15.7_ENST00000606425.1_Intron	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	14							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGATAGTTTTCAACCTCAGGT	0.343000													46	84					0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31263431	31263431	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:31263431G>A	ENST00000579849.1	+	6	810	c.379G>A	c.(379-381)Gac>Aac	p.D127N	TMEM98_ENST00000578289.1_Missense_Mutation_p.D127N|TMEM98_ENST00000394642.3_Missense_Mutation_p.D127N	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	127						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CAGTGTCAGCGACATCATTGT	0.577000													11	253					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79348725	79348725	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:79348725C>T	ENST00000233735.1	+	3	205	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	34	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGGCCCGGATCAGCTGCCCAG	0.522000													55	192					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57440681	57440681	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:57440681G>C	ENST00000442789.2	-	8	794	c.507C>G	c.(505-507)ttC>ttG	p.F169L	MYO1A_ENST00000300119.3_Missense_Mutation_p.F169L|MYO1A_ENST00000544473.1_Missense_Mutation_p.F7L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	169	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGGATCCCTTGAAGTCAAATT	0.507000													27	27					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190094	53190094	+	Silent	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:53190094A>G	ENST00000566029.1	+	2	302	c.93A>G	c.(91-93)ggA>ggG	p.G31G	CHD9_ENST00000447540.1_Silent_p.G31G|CHD9_ENST00000398510.3_Silent_p.G31G|CHD9_ENST00000564845.1_Silent_p.G31G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	31					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TACAACCAGGACCTGTTTCAC	0.388000													3	36					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75111600	75111600	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:75111600C>T	ENST00000309664.5	+	6	844	c.705C>T	c.(703-705)acC>acT	p.T235T	LMAN1L_ENST00000379709.3_Silent_p.T235T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	235	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCAGCCACCGGCACCCTGG	0.572000													12	61					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50901984	50901984	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:50901984G>C	ENST00000374113.3	+	2	309	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374111.3_Intron			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				TGCCTCCTCTGAGGAGTCCCT	0.443000													5	35					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38347732	38347732	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:38347732C>G	ENST00000436615.3	+	9	1372	c.882C>G	c.(880-882)atC>atG	p.I294M	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.I343M|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.I349M|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.I294M	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	500					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGAAGTTCATCAAGATCGCGG	0.746000													3	10					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214805897	214805897	+	Silent	SNP	G	G	A	rs139822426	by1000genomes	TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:214805897G>A	ENST00000366955.3	+	10	1566	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	466	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.A466A(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGAACAGGCGTTCCAGGCGA	0.433000													3	32					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834714	27834714	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:27834714C>T	ENST00000331442.3	-	1	645	c.594G>A	c.(592-594)ccG>ccA	p.P198P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	198					nucleosome assembly	nucleosome|nucleus	DNA binding	p.P198P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGCCGCCTTCGGCTTAACTG	0.557000													33	84					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240372003	240372003	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:240372003C>T	ENST00000319653.9	+	5	4121	c.3891C>T	c.(3889-3891)taC>taT	p.Y1297Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1297	FH2.				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			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)			AGCCTCTTTACTGGACCAGGA	0.458000													8	31					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51746503	51746503	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:51746503G>C	ENST00000395052.3	+	3	699	c.465G>C	c.(463-465)ttG>ttC	p.L155F	GRM2_ENST00000442933.2_Missense_Mutation_p.L155F|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	155					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCAACCTCTTGAGGCTATTTC	0.542000													31	58					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661641	40661641	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:40661641C>T	ENST00000267889.3	+	8	3415	c.3328C>T	c.(3328-3330)Ctc>Ttc	p.L1110F	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1110					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTTCCAATCTCTCTGCTGTTT	0.567000													11	47					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43339379	43339379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:43339379G>A	ENST00000290650.4	-	14	1726	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.Q550*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	550					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CACCACTCTTGGAACATGAGT	0.363000													47	252					0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6230157	6230157	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:6230157C>G	ENST00000350796.3	-	2	176	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	14					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GAGAGGTCTTCAGGCACTGAA	0.373000													8	9					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55792155	55792155	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:55792155G>C	ENST00000272313.5	-	12	2030	c.1703C>G	c.(1702-1704)gCc>gGc	p.A568G	SMEK2_ENST00000407823.3_Missense_Mutation_p.A621G|SMEK2_ENST00000345102.5_Missense_Mutation_p.A653G	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	653						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACTATATGGGCAGTAAGAGA	0.274000													19	18					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1147355	1147355	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:1147355C>T	ENST00000361757.3	-	4	469	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	SBNO2_ENST00000587024.1_Missense_Mutation_p.V78M	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	78					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGTGGCCACGGGGGCATAG	0.697000													3	63					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37537511	37537511	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:37537511C>G	ENST00000432825.2	-	3	1063	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	339						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CTACCCACCTCTGCCTCCTGT	0.607000													4	13					0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3080750	3080750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:3080750G>A	ENST00000572449.1	-	4	624	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CCDC64B_ENST00000573514.1_5'UTR|CCDC64B_ENST00000389347.4_Nonsense_Mutation_p.Q188*			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	188										breast(1)|endometrium(2)|large_intestine(1)	4						GCCAGTGCCTGAGCCTGGCAC	0.627000													7	14					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122780247	122780247	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:122780247G>A	ENST00000264499.4	-	5	611	c.428C>T	c.(427-429)tCt>tTt	p.S143F	BBS7_ENST00000506636.1_Missense_Mutation_p.S143F	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	143					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTATCCCCAGAAAGGTAATA	0.413000									Bardet-Biedl syndrome				15	62					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781405	135781405	+	Silent	SNP	G	G	A	rs118203547		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:135781405G>A	ENST00000298552.3	-	15	1781	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	TSC1_ENST00000440111.2_Silent_p.H520H|TSC1_ENST00000545250.1_Silent_p.H469H	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	520					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGGCTGCCGAGTGGGTCTTCC	0.582000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				22	14					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13004312	13004312	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:13004312G>T	ENST00000222214.5	+	6	561	c.350G>T	c.(349-351)gGg>gTg	p.G117V	GCDH_ENST00000591470.1_Missense_Mutation_p.G117V|GCDH_ENST00000457854.1_Missense_Mutation_p.G117V|GCDH_ENST00000422947.2_Missense_Mutation_p.G73V			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	117					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GGCTGTGCTGGGGTTTCGTCT	0.597000													15	32					1.15088e-07	1.21959e-07	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98428945	98428945	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:98428945C>T	ENST00000186436.5	-	17	2030	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	601						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						TATTGTAGTTCTATTGCCTCT	0.323000													61	36					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580024	82580024	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:82580024C>G	ENST00000333891.9	-	6	10217	c.9880G>C	c.(9880-9882)Gag>Cag	p.E3294Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E3294Q|PCLO_ENST00000437081.1_Missense_Mutation_p.E14Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGATCTGCTCAAGCTGTAAC	0.493000													32	117					0	0	1	0	0
LRRTM2	26045	broad.mit.edu	37	5	138209397	138209397	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:138209397C>T	ENST00000274711.6	-	2	1231	c.853G>A	c.(853-855)Gat>Aat	p.D285N	CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	285						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGTTGTTATCCATGAGGAGT	0.453000													26	127					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4349409	4349409	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:4349409G>A	ENST00000355530.2	+	4	749	c.469G>A	c.(469-471)Gcg>Acg	p.A157T	SPNS3_ENST00000333476.2_Missense_Mutation_p.A30T|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	157					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCCACCATCGCGCCCACCGT	0.622000													25	24					0	0	1	0	0
UBE2V2	7336	broad.mit.edu	37	8	48955643	48955643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:48955643C>T	ENST00000523111.2	+	2	122	c.67C>T	c.(67-69)Caa>Taa	p.Q23*	UBE2V2_ENST00000517630.1_5'UTR|UBE2V2_ENST00000521346.1_5'UTR|UBE2V2_ENST00000520809.1_5'UTR	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	23					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				TGAAGAAGGACAAAAAGGAGT	0.408000								Rad6 pathway					33	47					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178759	112178759	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:112178759G>A	ENST00000457016.1	+	16	7848	c.7468G>A	c.(7468-7470)Gat>Aat	p.D2490N	APC_ENST00000508376.2_Missense_Mutation_p.D2490N|APC_ENST00000257430.4_Missense_Mutation_p.D2490N|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2490	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)		TTCCCTTCCTGATATGTCTCT	0.468000		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)			13	90					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823649	38823649	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:38823649G>A	ENST00000303592.3	-	2	747	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	163					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	p.I163I(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGAAGGAGTCGATGACGCAGC	0.627000													3	25					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337556	104337556	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:104337556G>C	ENST00000358755.4	+	4	1539	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	FZD6_ENST00000523739.1_Missense_Mutation_p.E376Q|FZD6_ENST00000540287.1_Missense_Mutation_p.E103Q|FZD6_ENST00000522566.1_Missense_Mutation_p.E408Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	408					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CCGGAACCAAGAAAAACTAAA	0.403000													83	155					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024861	197024861	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:197024861G>C	ENST00000367412.1	-	8	1381	c.1338C>G	c.(1336-1338)tcC>tcG	p.S446S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	446	Sushi 7.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAACAGGTGGGGATGACCATT	0.363000													11	61					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109411062	109411062	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:109411062C>G	ENST00000295124.4	+	5	521	c.461C>G	c.(460-462)tCt>tGt	p.S154C	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.S154C	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	154										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GCAGGTGACTCTCCTTTGAAA	0.398000													37	31					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129280747	129280747	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:129280747C>T	ENST00000393239.1	-	28	5004		c.e28-1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCGAACCACTCTGGGGGACAA	0.632000													8	27					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911866	88911866	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:88911866G>T	ENST00000263321.5	+	1	1247	c.745G>T	c.(745-747)Gat>Tat	p.D249Y	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	249					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CATTTGCACAGATGAGTACAT	0.463000													18	202					1.10923e-09	1.2093e-09	1	1	0
SVIL	6840	broad.mit.edu	37	10	29824926	29824926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:29824926C>T	ENST00000375398.2	-	9	1349	c.900G>A	c.(898-900)tgG>tgA	p.W300*	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Nonsense_Mutation_p.W300*			O95425	SVIL_HUMAN	supervillin	300					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCTGGAAGGCCAGTTGATAA	0.512000											OREG0020098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	62					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57441148	57441148	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:57441148C>T	ENST00000442789.2	-	6	656	c.369G>A	c.(367-369)ggG>ggA	p.G123G	MYO1A_ENST00000300119.3_Silent_p.G123G|MYO1A_ENST00000544473.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	123	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCTCTCCTTTCCCACAGACGG	0.582000													42	59					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71041034	71041034	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:71041034C>T	ENST00000452400.2	-	17	3687	c.3506G>A	c.(3505-3507)cGt>cAt	p.R1169H	NCOA2_ENST00000267974.4_Missense_Mutation_p.R257H	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1169					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGGCTGCATACGGAGTGTGGC	0.552000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								5	59					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27431370	27431370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:27431370G>A	ENST00000326799.3	-	5	695	c.547C>T	c.(547-549)Cga>Tga	p.R183*	YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R126*|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	183					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAATGATGTCGATACAAGCAA	0.308000													19	152					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53568752	53568752	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:53568752C>T	ENST00000025008.5	-	15	4160	c.3637G>A	c.(3637-3639)Gag>Aag	p.E1213K	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E1213K|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E1213K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1213					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGTCTTTCTCAAGGTTCTGG	0.373000													37	102					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35302719	35302719	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:35302719C>G	ENST00000374748.1	-	20	2210	c.1897G>C	c.(1897-1899)Gat>Cat	p.D633H	CUL2_ENST00000602371.1_Missense_Mutation_p.D576H|CUL2_ENST00000374749.3_Missense_Mutation_p.D633H|CUL2_ENST00000374742.1_Missense_Mutation_p.D633H|CUL2_ENST00000374746.1_Missense_Mutation_p.D633H|CUL2_ENST00000374751.3_Missense_Mutation_p.D633H|CUL2_ENST00000537177.1_Missense_Mutation_p.D652H			Q13617	CUL2_HUMAN	cullin 2	633					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GATTCTGCATCAATATCTTCC	0.264000													4	65					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15848928	15848928	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:15848928G>A	ENST00000380701.3	+	23	3779	c.3451G>A	c.(3451-3453)Gaa>Aaa	p.E1151K	CCDC171_ENST00000297641.3_Missense_Mutation_p.E1151K	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1151																	GAGAGCAGTAGAAAATACGCT	0.294000													6	52					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171038	70171038	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:70171038C>A	ENST00000253925.7	+	4	667	c.452C>A	c.(451-453)cCa>cAa	p.P151Q	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.P151Q|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	151					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCGCAGTCTCCAGCAGGCGTG	0.502000													18	121					5.3912e-06	5.59818e-06	1	1	0
VPS72	6944	broad.mit.edu	37	1	151156916	151156916	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:151156916G>A	ENST00000354473.4	-	4	475	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	147					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGTACCCGAAGGAACGTT	0.537000													10	76					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500049	220500049	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:220500049C>T	ENST00000358055.3	+	13	2315	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	SLC4A3_ENST00000273063.6_Silent_p.I628I|SLC4A3_ENST00000373760.2_Silent_p.I601I|SLC4A3_ENST00000373762.3_Silent_p.I628I|SLC4A3_ENST00000317151.3_Silent_p.I601I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	601					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAAGTGCCATCAGCGAGTTCC	0.627000													18	52					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30037074	30037074	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:30037074G>T	ENST00000380495.4	-	4	1244	c.513C>A	c.(511-513)ttC>ttA	p.F171L	FAM57B_ENST00000564806.1_Missense_Mutation_p.F121L|FAM57B_ENST00000279389.4_Missense_Mutation_p.F121L	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	171	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CAAGGCAGACGAAGGGCGTGC	0.597000													17	172					1.37522e-17	1.55294e-17	1	1	0
FASN	2194	broad.mit.edu	37	17	80046914	80046914	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:80046914G>T	ENST00000306749.2	-	14	2453	c.2235C>A	c.(2233-2235)ttC>ttA	p.F745L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	745	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGCCTCCTGGAACAGCACAG	0.692000													4	10					1.23904e-05	1.28192e-05	1	1	0
SPDYE3	441272	broad.mit.edu	37	7	99917593	99917593	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:99917593G>A	ENST00000332397.6	+	10	1814	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D167N	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	544								p.D544N(1)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGGGCGCGAGATCGCGCCCA	0.582000													18	28					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74828848	74828848	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:74828848G>C	ENST00000358399.3	+	5	612	c.519G>C	c.(517-519)ttG>ttC	p.L173F	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.L173F|GDA_ENST00000545168.1_Missense_Mutation_p.L99F|GDA_ENST00000376986.1_Missense_Mutation_p.L131F|GDA_ENST00000376989.3_Missense_Mutation_p.L148F	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	173					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)		GCATGGATTTGAATGACACTT	0.383000													10	56					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113350317	113350317	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:113350317G>A	ENST00000458497.1	+	10	1087	c.808G>A	c.(808-810)Gag>Aag	p.E270K	ALPK1_ENST00000177648.9_Missense_Mutation_p.E270K|ALPK1_ENST00000504176.2_Missense_Mutation_p.E192K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	270							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCTGCTGAAGGAGTTTGACCA	0.473000													27	104					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726397	69726397	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:69726397C>G	ENST00000349945.1	+	14	3939	c.2387C>G	c.(2386-2388)tCt>tGt	p.S796C	NFAT5_ENST00000567239.1_Missense_Mutation_p.S889C|NFAT5_ENST00000393742.2_Missense_Mutation_p.S796C|NFAT5_ENST00000354436.2_Missense_Mutation_p.S872C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S796C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S890C	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	872					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CATCCACAGTCTGAAAACACG	0.458000													7	68					0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3558323	3558323	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:3558323C>G	ENST00000046640.3	+	6	850	c.257C>G	c.(256-258)tCt>tGt	p.S86C	CTNS_ENST00000441220.2_Intron|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000381870.3_Missense_Mutation_p.S86C|CTNS_ENST00000414524.2_5'UTR	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	86					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACAAACTCCTCTTTTCAAGTG	0.512000													17	62					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42870200	42870200	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:42870200C>G	ENST00000431473.3	+	3	542	c.413C>G	c.(412-414)tCa>tGa	p.S138*		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	138	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GAAGACTTTTCAAAAATGATT	0.562000													8	65					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004502	102004502	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:102004502G>A	ENST00000372735.1	+	4	1164	c.579G>A	c.(577-579)gtG>gtA	p.V193V	BHLHB9_ENST00000447531.1_Silent_p.V193V|BHLHB9_ENST00000448867.1_Silent_p.V193V|BHLHB9_ENST00000361229.4_Silent_p.V193V|BHLHB9_ENST00000457056.1_Silent_p.V193V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	193						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTAAACCTGTGAGCAGGATAG	0.458000													31	93					0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200824491	200824491	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:200824491G>A	ENST00000295079.2	+	4	859	c.537G>A	c.(535-537)ttG>ttA	p.L179L	C2orf47_ENST00000392290.1_Silent_p.L179L|C2orf47_ENST00000469156.1_3'UTR	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	179						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TACATGCATTGAAAGAAAAGG	0.323000													16	42					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767292	150767292	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:150767292C>G	ENST00000485713.1	+	10	2348	c.1308C>G	c.(1306-1308)ttC>ttG	p.F436L	SLC4A2_ENST00000461735.1_Missense_Mutation_p.F422L|SLC4A2_ENST00000413384.2_Missense_Mutation_p.F436L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.F354L|SLC4A2_ENST00000392826.2_Missense_Mutation_p.F427L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	436					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAAGGACTTCTCCTTCCCCC	0.632000													6	61					0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119915321	119915321	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:119915321C>T	ENST00000272520.3	-	1	1144	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	175	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CATCGAACTTCAGCACCTCAT	0.587000										HNSCC(49;0.14)			10	5					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	881603	881603	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:881603G>C	ENST00000327044.6	-	16	1916	c.1867C>G	c.(1867-1869)Cgc>Ggc	p.R623G		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	623						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGCAGCTTGCGCCAGTGGCTG	0.642000													7	26					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55612664	55612664	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:55612664G>A	ENST00000294383.6	-	19	2187	c.2188C>T	c.(2188-2190)Cgt>Tgt	p.R730C	USP24_ENST00000407756.1_Missense_Mutation_p.R570C	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						TCCTTGGCACGATTCCAGCCC	0.388000													11	18					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818177	200818177	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:200818177G>C	ENST00000358823.2	+	11	2550	c.2280G>C	c.(2278-2280)aaG>aaC	p.K760N	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.K771N|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.K744N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	771						cytoplasm|microtubule	protein binding										TAGAAGAAAAGAGGCGTGCTA	0.453000													9	44					0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76910813	76910813	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:76910813G>A	ENST00000372687.4	+	2	612	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	SAMD8_ENST00000372690.3_Missense_Mutation_p.R239Q|SAMD8_ENST00000542569.1_Missense_Mutation_p.R176Q			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTCCATGAGCGAGTGCCTGAC	0.358000													10	125					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042595	60042595	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:60042595G>A	ENST00000397786.2	-	20	4692	c.4616C>T	c.(4615-4617)tCa>tTa	p.S1539L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1539	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGATGAAGATGAAGTTGAAGC	0.433000													40	88					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57972105	57972105	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:57972105C>T	ENST00000455537.2	+	23	2792	c.2518C>T	c.(2518-2520)Ctt>Ttt	p.L840F	KIF5A_ENST00000286452.5_Missense_Mutation_p.L751F	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	840					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCTGGAACAGCTTACAAAGGT	0.468000													11	81					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34009793	34009793	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:34009793C>G	ENST00000262325.7	+	17	2915	c.2362C>G	c.(2362-2364)Ctc>Gtc	p.L788V	AP2B1_ENST00000589344.1_Missense_Mutation_p.L802V|AP2B1_ENST00000592545.1_Missense_Mutation_p.L764V|AP2B1_ENST00000538556.1_Missense_Mutation_p.L731V|AP2B1_ENST00000312678.8_Missense_Mutation_p.L802V|AP2B1_ENST00000537622.2_Missense_Mutation_p.L802V|CTC-507E2.1_ENST00000588135.1_RNA|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	788					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCCCTGCCTCTCAATACCTT	0.458000													5	66					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	123006798	123006798	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:123006798C>G	ENST00000331738.7	-	2	200	c.55G>C	c.(55-57)Gat>Cat	p.D19H	RSRC2_ENST00000354654.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	19										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTATCTCTATCTGGTGATGTC	0.338000													7	49					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53279301	53279301	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:53279301G>A	ENST00000294353.6	+	11	1934	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	ZYG11B_ENST00000545132.1_3'UTR|ZYG11B_ENST00000443756.2_Missense_Mutation_p.E527K	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	597							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TGTGGAAGTGGAAGTCAGTTA	0.393000													12	69					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140472031	140472031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:140472031G>A	ENST00000277540.2	-	2	335	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	DPH7_ENST00000479650.1_Intron	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		AAACGGACCTGAGGCTCCTTA	0.463000													30	23					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387673	56387673	+	Silent	SNP	T	T	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:56387673T>G	ENST00000423270.1	-	9	2252	c.2253A>C	c.(2251-2253)tcA>tcC	p.S751S	RFX7_ENST00000559447.2_Silent_p.S654S|RFX7_ENST00000422057.1_Silent_p.S654S|RFX7_ENST00000317318.6_Silent_p.S751S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	654					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGGAGATGATGATGGGGTTG	0.393000													4	37					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18548331	18548331	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:18548331C>T	ENST00000536719.1	-	1	167	c.33G>A	c.(31-33)atG>atA	p.M11I	TSG101_ENST00000251968.3_Missense_Mutation_p.M11I|TSG101_ENST00000357193.3_Missense_Mutation_p.M11I			Q99816	TS101_HUMAN	tumor susceptibility 101	11	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CCTTGGACACCATTTTCTTGA	0.706000													6	4					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962300	73962300	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:73962300C>T	ENST00000055682.6	-	3	2703	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCACTGAGTCAGGGCCTGTG	0.418000													6	23					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99985033	99985033	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:99985033C>A	ENST00000289371.6	+	7	1568	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAAATACCACAGCAGCTAGA	0.348000													13	292					1.15088e-07	1.21959e-07	1	1	0
TMEM209	84928	broad.mit.edu	37	7	129841852	129841852	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:129841852C>G	ENST00000397622.2	-	5	533	c.411G>C	c.(409-411)caG>caC	p.Q137H	TMEM209_ENST00000473456.1_Missense_Mutation_p.Q137H|TMEM209_ENST00000336804.8_Missense_Mutation_p.Q136H|TMEM209_ENST00000462753.1_Missense_Mutation_p.Q136H|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	137	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCAACACACTCTGACCCTGAA	0.512000													7	46					0	0	1	0	0
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr18:9122540G>A	ENST00000400033.1	+	6	456	c.339G>A	c.(337-339)atG>atA	p.M113I	NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TACCTCCAATGAGAGTATATG	0.328000													5	216					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44587977	44587977	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:44587977C>T	ENST00000322927.2	-	15	2216	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	ZNF335_ENST00000426788.1_Missense_Mutation_p.E551K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCCCATTCCTCGAAGCTGCTT	0.647000													6	42					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35247702	35247702	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr21:35247702G>A	ENST00000381318.3	+	34	4506	c.4218G>A	c.(4216-4218)ttG>ttA	p.L1406L	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Silent_p.L1401L|ITSN1_ENST00000381285.4_Silent_p.L1406L|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1406	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACAGCCACTTGAAGCACGCCC	0.577000													10	66					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183195920	183195920	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:183195920C>A	ENST00000264144.4	+	9	1219	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H	LAMC2_ENST00000493293.1_Missense_Mutation_p.P385H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	385	Laminin EGF-like 4; second part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGTATATGTCCTGTTGGGTAC	0.522000													21	129					8.10497e-08	8.62102e-08	1	1	0
SCAPER	49855	broad.mit.edu	37	15	77067265	77067265	+	Silent	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:77067265A>G	ENST00000538941.2	-	9	1167	c.228T>C	c.(226-228)tcT>tcC	p.S76S	SCAPER_ENST00000563290.1_Silent_p.S322S|SCAPER_ENST00000324767.7_Silent_p.S322S	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	321						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTATAGTATTAGAAGTTCCAT	0.373000													29	53					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271807	65271807	+	RNA	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:65271807G>C	ENST00000534336.1	+	0	6575					NR_002819.2																						ACTTCACAGAGAATGCAGTTG	0.423000													4	14					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40054256	40054256	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:40054256G>C	ENST00000336649.4	+	14	2110	c.2110G>C	c.(2110-2112)Gac>Cac	p.D704H	CACNA1I_ENST00000402142.3_Missense_Mutation_p.D698H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D698H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D663H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D663H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D663H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	698					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGGCTCTTCGACTACCTGCG	0.567000													6	55					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3350374	3350374	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:3350374G>A	ENST00000378398.3	+	18	3912	c.3830G>A	c.(3829-3831)tGa>tAa	p.*1277*	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.*1277*|PRDM16_ENST00000378391.2_Silent_p.*1258*|PRDM16_ENST00000442529.2_Silent_p.*1257*|PRDM16_ENST00000511072.1_3'UTR|PRDM16_ENST00000441472.2_Silent_p.*1276*|PRDM16_ENST00000514189.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	0					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AACCACCTCTGACGGGCTGGG	0.687000			T	EVI1	"""MDS, AML"""								4	39					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815338	147815338	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:147815338G>C	ENST00000361727.3	+	16	3028	c.2512G>C	c.(2512-2514)Gaa>Caa	p.E838Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	838	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGTGTTTCTTGAAAATATGGG	0.458000										HNSCC(39;0.1)			21	47					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105029	207105029	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:207105029G>A	ENST00000356495.4	-	9	2310	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	709						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTTTCCTCCGAGGGATGTCT	0.507000													11	55					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991867	72991867	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:72991867G>A	ENST00000268489.5	-	2	2850	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	726					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTCGCAGCGGAAAGGCTTGT	0.567000													16	69					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178774	223178774	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:223178774C>A	ENST00000284476.6	+	8	4199	c.4035C>A	c.(4033-4035)gcC>gcA	p.A1345A		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1345					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TAAAGCCAGCCGGAATGCAGA	0.532000													34	25					1.61788e-16	1.81971e-16	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119134792	119134792	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:119134792C>G	ENST00000264245.4	+	12	4548	c.4016C>G	c.(4015-4017)tCa>tGa	p.S1339*		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1339					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCCACAGGTCAAGGCCAGGA	0.512000													18	78					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203098028	203098028	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:203098028C>T	ENST00000367236.4	+	2	980	c.59C>T	c.(58-60)gCc>gTc	p.A20V	ADORA1_ENST00000337894.4_Missense_Mutation_p.A20V|ADORA1_ENST00000309502.3_Missense_Mutation_p.A20V|ADORA1_ENST00000367235.1_Missense_Mutation_p.A20V	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	20					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GTGCTCATCGCCCTGGTCTCT	0.657000													13	62					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43339380	43339380	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr15:43339380G>T	ENST00000290650.4	-	14	1725	c.1647C>A	c.(1645-1647)ttC>ttA	p.F549L	UBR1_ENST00000382177.2_Missense_Mutation_p.F549L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	549					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCACTCTTGGAACATGAGTA	0.363000													48	251					6.60958e-23	7.52353e-23	1	1	0
ENAM	10117	broad.mit.edu	37	4	71508031	71508031	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:71508031C>T	ENST00000396073.3	+	9	1169	c.888C>T	c.(886-888)aaC>aaT	p.N296N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	296					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTGCAGTCAACGCTTCAGGCC	0.488000													6	35					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	475206	475206	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:475206G>A	ENST00000264938.3	-	16	2302	c.2293C>T	c.(2293-2295)Cgc>Tgc	p.R765C	SLC9A3_ENST00000514375.1_Missense_Mutation_p.R756C|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	765						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGAGGCTGCGGTCCAGGGCC	0.682000													11	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086840	9086840	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:9086840C>T	ENST00000397910.4	-	1	5178	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1659	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGATGTCTCAGCTGGGGAG	0.517000													11	68					0	0	1	0	0
KDELR2	11014	broad.mit.edu	37	7	6502692	6502692	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:6502692C>G	ENST00000490996.1	-	4	465	c.466G>C	c.(466-468)Gat>Cat	p.D156H	KDELR2_ENST00000258739.4_3'UTR|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron	NM_001100603.1	NP_001094073.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	0					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TTTTCCGTATCAAGCATCTTA	0.433000													10	85					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231174706	231174706	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:231174706C>G	ENST00000392045.3	+	23	2240	c.2126C>G	c.(2125-2127)tCa>tGa	p.S709*	SP140_ENST00000343805.6_Nonsense_Mutation_p.S649*|SP140_ENST00000350136.5_Nonsense_Mutation_p.S578*|SP140_ENST00000420434.3_Nonsense_Mutation_p.S682*|SP140_ENST00000417495.3_Nonsense_Mutation_p.S595*|SP140_ENST00000486687.2_Nonsense_Mutation_p.S633*	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	709					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GACACTTGTTCAAGAGTCTTC	0.512000													34	17					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78113545	78113545	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:78113545C>T	ENST00000269349.3	-	6	731	c.510G>A	c.(508-510)atG>atA	p.M170I		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	170	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGCGACGAATCATATCTATAA	0.363000													26	72					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37036074	37036074	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:37036074G>A	ENST00000379242.3	+	15	2151	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	VIT_ENST00000497382.1_Missense_Mutation_p.D271N|VIT_ENST00000401530.1_Missense_Mutation_p.D581N|VIT_ENST00000389975.3_Missense_Mutation_p.D602N|VIT_ENST00000404084.1_Missense_Mutation_p.D554N|VIT_ENST00000379241.3_Missense_Mutation_p.D580N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	602	VWFA 2.					proteinaceous extracellular matrix		p.D617Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTCATCACCGACGGGAGGTC	0.597000													16	24					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063163	194063163	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:194063163G>A	ENST00000323830.3	-	2	358	c.269C>T	c.(268-270)cCg>cTg	p.P90L	CPN2_ENST00000429275.1_Missense_Mutation_p.P90L	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	90					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)		GAAGGCATCCGGCCTAAACTG	0.567000													7	49					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137321078	137321078	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:137321078C>G	ENST00000540193.1	+	6	1667	c.744C>G	c.(742-744)atC>atG	p.I248M	RXRA_ENST00000481739.1_Missense_Mutation_p.I345M|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	345	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TGGGCGCCATCTTTGACAGGT	0.701000													7	31					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	859104	859104	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:859104T>C	ENST00000316157.3	-	17	2019	c.1979A>G	c.(1978-1980)gAg>gGg	p.E660G		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	660							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AGAAGGAGGCTCTTTACTCGT	0.493000													21	57					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76713635	76713635	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:76713635C>A	ENST00000369950.3	-	11	1357	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	390					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GATTGGGTGTCAGGACCAAAG	0.388000													6	25					3.09899e-07	3.27788e-07	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024328	55024328	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr18:55024328G>T	ENST00000324000.3	+	3	2521	c.487G>T	c.(487-489)Gct>Tct	p.A163S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	163					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TAATATTTGTGCTGTGGTTGG	0.403000													90	42					1.63549e-45	1.86538e-45	1	1	0
DZIP1	22873	broad.mit.edu	37	13	96272168	96272168	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr13:96272168G>A	ENST00000347108.3	-	8	1576	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	DZIP1_ENST00000361396.2_Missense_Mutation_p.H382Y|DZIP1_ENST00000376829.2_Missense_Mutation_p.H382Y|DZIP1_ENST00000361156.3_Missense_Mutation_p.H382Y			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	382					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGTTCTTGATGAATAGCTTGA	0.343000													54	189					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000269305.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537000		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)			18	17					2.39187e-15	2.67851e-15	1	1	0
KIF15	56992	broad.mit.edu	37	3	44852341	44852341	+	Missense_Mutation	SNP	A	A	G	rs141131531	byFrequency	TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:44852341A>G	ENST00000326047.4	+	17	2124	c.1975A>G	c.(1975-1977)Ata>Gta	p.I659V	KIF15_ENST00000425755.1_Missense_Mutation_p.I294V	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	659					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GCTGCAGATTATAACTACACC	0.338000													33	36					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57215790	57215790	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:57215790G>C	ENST00000205214.6	-	11	2307	c.2127C>G	c.(2125-2127)gaC>gaG	p.D709E	AASDH_ENST00000513376.1_Missense_Mutation_p.D609E|AASDH_ENST00000602986.1_Missense_Mutation_p.D556E|AASDH_ENST00000502617.1_Missense_Mutation_p.D709E|AASDH_ENST00000451613.1_Missense_Mutation_p.D709E|AASDH_ENST00000434343.2_Missense_Mutation_p.D224E	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	709					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTGAAACTGAGTCAGAAGGAC	0.383000													26	51					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526824	23526824	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:23526824C>G	ENST00000296682.3	+	11	1809	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	543					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATTACACACCAAAGGACACA	0.468000										HNSCC(3;0.000094)			20	95					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121686468	121686468	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:121686468C>T	ENST00000324774.5	-	14	2221	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	CAMKK2_ENST00000545538.1_Missense_Mutation_p.E252K|CAMKK2_ENST00000392473.2_Missense_Mutation_p.E465K|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E465K|CAMKK2_ENST00000392474.2_Missense_Mutation_p.E465K|CAMKK2_ENST00000402834.4_Missense_Mutation_p.E465K|CAMKK2_ENST00000404169.3_Missense_Mutation_p.E465K|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E465K|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000538733.1_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	465					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	p.E465*(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGTCACTTCGACCAGCGTG	0.612000													14	117					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487084	31487084	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:31487084C>T	ENST00000333137.7	+	10	1293	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	SMTN_ENST00000358743.1_Silent_p.L359L|SMTN_ENST00000347557.2_Silent_p.L359L	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	359					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCTAAGTCCCCTGACCCCCGC	0.667000													125	34					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129832606	129832606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:129832606C>A	ENST00000397622.2	-	6	753	c.631G>T	c.(631-633)Gag>Tag	p.E211*	TMEM209_ENST00000473456.1_Nonsense_Mutation_p.E211*|TMEM209_ENST00000336804.8_Nonsense_Mutation_p.E210*|TMEM209_ENST00000462753.1_Nonsense_Mutation_p.E210*|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	211	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CCACTGCTCTCCACTGGTCCA	0.438000													13	23					1.49906e-05	1.54812e-05	1	1	0
ITGAL	3683	broad.mit.edu	37	16	30528974	30528974	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:30528974C>A	ENST00000356798.6	+	27	3161	c.2981C>A	c.(2980-2982)cCt>cAt	p.P994H	ITGAL_ENST00000433423.2_Missense_Mutation_p.P228H|ITGAL_ENST00000358164.5_Missense_Mutation_p.P910H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	994					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCCTAGGAGCCTCCCGTGCCC	0.637000													23	31					2.39556e-15	2.67851e-15	1	1	0
PZP	5858	broad.mit.edu	37	12	9353577	9353577	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:9353577G>A	ENST00000261336.2	-	6	609	c.581C>T	c.(580-582)tCa>tTa	p.S194L	PZP_ENST00000381997.2_Missense_Mutation_p.S63L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGCTCTGATGAGAGGGGAAA	0.478000													7	63					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661977	22661977	+	RNA	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:22661977C>G	ENST00000426066.1	+	0	500					NR_027293.1																						TGGATGATTTCTTTTACAGAT	0.313000													6	22					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640135	58640135	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:58640135G>T	ENST00000598312.1	-	4	969	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ZNF329_ENST00000358067.4_Missense_Mutation_p.L246M	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGCACAATCAGGTTGTAGTTC	0.458000													17	146					0.0285812	0.028733	1	1	0
CROCC	9696	broad.mit.edu	37	1	17292592	17292592	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:17292592G>C	ENST00000375541.5	+	29	4743	c.4674G>C	c.(4672-4674)aaG>aaC	p.K1558N		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1558					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTGCAGAAGGCGGTGGCTG	0.627000													4	16					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23946758	23946758	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr14:23946758G>A	ENST00000397154.3	+	10	930	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	NGDN_ENST00000408901.3_Missense_Mutation_p.R306Q|NGDN_ENST00000556580.1_Missense_Mutation_p.R62Q			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	306					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGAAAGGTCGGAAGAAAAAA	0.473000													7	32					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66631398	66631398	+	Silent	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:66631398G>T	ENST00000393960.1	-	12	1496	c.1215C>A	c.(1213-1215)atC>atA	p.I405I	PC_ENST00000393958.2_Silent_p.I405I|PC_ENST00000355677.3_Silent_p.I405I|PC_ENST00000393955.2_Silent_p.I405I|PC_ENST00000524491.1_Silent_p.I365I	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	405	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TATCCAGGCGGATGCCCATGC	0.637000													17	131					3.5997e-14	4.00123e-14	1	1	0
SF3A3	10946	broad.mit.edu	37	1	38455251	38455251	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:38455251T>A	ENST00000373019.4	-	2	1068	c.113A>T	c.(112-114)aAt>aTt	p.N38I	SF3A3_ENST00000448721.2_Missense_Mutation_p.N38I|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	38					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGATCAGAATTGATCTGGTC	0.572000													19	17					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964493	119964493	+	Silent	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:119964493T>C	ENST00000543831.1	+	4	618	c.369T>C	c.(367-369)agT>agC	p.S123S	HSD3B2_ENST00000369416.3_Silent_p.S123S	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	123					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TCTACACCAGTAGCATAGAGG	0.532000													51	139					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50397531	50397531	+	Silent	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:50397531G>C	ENST00000595948.1	-	7	1247	c.627C>G	c.(625-627)ctC>ctG	p.L209L	IL4I1_ENST00000391826.2_Silent_p.L187L|IL4I1_ENST00000341114.3_Silent_p.L209L	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	187						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCACCTGGTTGAGAGCCATCT	0.622000													3	15					0	0	1	0	0
SLC39A9	55334	broad.mit.edu	37	14	69925089	69925089	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr14:69925089G>A	ENST00000031146.4	+	6	1183	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.E235K|SLC39A9_ENST00000557046.1_Missense_Mutation_p.E212K|SLC39A9_ENST00000556605.1_Intron			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	235					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GAGCAGTAAAGAAGCCCTTTC	0.463000													51	85					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929395	119929395	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:119929395G>A	ENST00000361035.4	+	6	1034	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	HAO2_ENST00000325945.3_Missense_Mutation_p.V238I			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	238	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GAAGCACAATGTCCAGGGTAT	0.458000													8	74					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117663532	117663532	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:117663532C>T	ENST00000256649.4	-	1	818	c.292G>A	c.(292-294)Gat>Aat	p.D98N	TRIM45_ENST00000369461.3_Missense_Mutation_p.D41N|TRIM45_ENST00000369464.3_Missense_Mutation_p.D98N	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	98						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		ACCTGAGCATCACATACAGGA	0.557000													16	44					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183029510	183029510	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:183029510G>C	ENST00000328913.3	-	8	1101	c.804C>G	c.(802-804)atC>atG	p.I268M	MCF2L2_ENST00000414362.2_Missense_Mutation_p.I268M|MCF2L2_ENST00000447025.2_Missense_Mutation_p.I268M|MCF2L2_ENST00000473233.1_Missense_Mutation_p.I268M	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	268					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGGTTCTTGGATGCATGACA	0.403000													56	32					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325710	99325710	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:99325710G>A	ENST00000408927.3	+	7	833	c.720G>A	c.(718-720)aaG>aaA	p.K240K	RAP1GDS1_ENST00000380158.4_Silent_p.K192K|RAP1GDS1_ENST00000453712.2_Silent_p.K241K|RAP1GDS1_ENST00000339360.5_Silent_p.K241K|RAP1GDS1_ENST00000264572.7_Silent_p.K149K|RAP1GDS1_ENST00000408900.3_Silent_p.K191K	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	240							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AACATGATAAGAGAGAAATGA	0.313000			T	NUP98	T-ALL								9	55					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911854	88911854	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:88911854G>A	ENST00000263321.5	+	1	1235	c.733G>A	c.(733-735)Gac>Aac	p.D245N	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	245					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGAAAAGTGTGACATTTGCAC	0.463000													14	199					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102642783	102642783	+	Silent	SNP	T	T	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:102642783T>A	ENST00000279441.4	-	9	1326	c.1290A>T	c.(1288-1290)ccA>ccT	p.P430P		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	430	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GCTCAACTCCTGGAAAGTCAT	0.388000													28	35					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220311311	220311311	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:220311311G>A	ENST00000366922.1	+	17	2216	c.1885G>A	c.(1885-1887)Gct>Act	p.A629T	IARS2_ENST00000302637.5_Missense_Mutation_p.A701T			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	701					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTGGTGGGTAGCTGATTCCAA	0.408000													45	37					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313436	1313436	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:1313436C>T	ENST00000296839.2	+	1	762	c.497C>T	c.(496-498)tCc>tTc	p.S166F		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	166					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TGGCGCAACTCCGTGCGCCAC	0.647000													12	36					0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73105599	73105599	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:73105599C>T	ENST00000064780.2	+	9	1127	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RELT_ENST00000393580.2_Missense_Mutation_p.S289L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	289						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGCCTGGCCTCGCTCTCTGGC	0.682000													10	65					0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44352663	44352663	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:44352663G>A	ENST00000279058.3	+	2	277	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	87	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				AAAATAGAACGTGAAGTAGCC	0.393000													69	73					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126337700	126337700	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:126337700G>C	ENST00000394329.3	+	6	6954	c.6941G>C	c.(6940-6942)gGa>gCa	p.G2314A	FAT4_ENST00000335110.5_Missense_Mutation_p.G612A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2314	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGCCAGTGGAGAACTTGGA	0.433000													20	79					0	0	1	0	0
ACER2	340485	broad.mit.edu	37	9	19435039	19435039	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:19435039C>T	ENST00000340967.2	+	4	486	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	ACER2_ENST00000380376.1_Silent_p.L105L	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	154					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTGATGACCCTGGGAGTTCC	0.547000													24	37					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4307909	4307909	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr4:4307909C>G	ENST00000337872.4	+	4	1421	c.1300C>G	c.(1300-1302)Cag>Gag	p.Q434E	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACATTTCTCTCAGGTGGGAAT	0.299000													9	45					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924028	150924028	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:150924028G>C	ENST00000261800.5	-	9	6672	c.6660C>G	c.(6658-6660)ttC>ttG	p.F2220L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2220	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAGTCTTGAAGTCAGTGG	0.512000													24	95					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100126408	100126408	+	Silent	SNP	C	C	T	rs149708666		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:100126408C>T	ENST00000375202.2	+	43	5462	c.4110C>T	c.(4108-4110)gcC>gcT	p.A1370A	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.A1370A|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Silent_p.A1315A					coiled-coil domain containing 180																		CCCCTGCTGCCGAGTGAGTAA	0.542000													18	7					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36522197	36522197	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:36522197G>A	ENST00000577233.1	+	5	1088	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	SOCS7_ENST00000331159.5_Missense_Mutation_p.R329Q	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	363	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GCTCCCATCCGAGCAGCTGAA	0.582000													5	51					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35302690	35302690	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr10:35302690C>G	ENST00000374748.1	-	20	2239	c.1926G>C	c.(1924-1926)atG>atC	p.M642I	CUL2_ENST00000602371.1_Missense_Mutation_p.M585I|CUL2_ENST00000374749.3_Missense_Mutation_p.M642I|CUL2_ENST00000374742.1_Missense_Mutation_p.M642I|CUL2_ENST00000374746.1_Missense_Mutation_p.M642I|CUL2_ENST00000374751.3_Missense_Mutation_p.M642I|CUL2_ENST00000537177.1_Missense_Mutation_p.M661I			Q13617	CUL2_HUMAN	cullin 2	642					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGCTAAAGTTCATATTTAATG	0.259000													4	72					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395176	29395176	+	Silent	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:29395176T>C	ENST00000377149.1	-	5	715	c.243A>G	c.(241-243)ccA>ccG	p.P81P	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.P81P|OR11A1_ENST00000377148.1_Silent_p.P81P			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CCAGCATTTTTGGCATCACTG	0.488000													14	29					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1234003	1234003	+	Silent	SNP	C	C	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:1234003C>A	ENST00000354700.5	-	11	1009	c.807G>T	c.(805-807)gtG>gtT	p.V269V	ACAP3_ENST00000353662.3_Silent_p.V227V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	269	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCCATCACCACCCCACTGG	0.647000													6	55					2.7689e-08	2.95626e-08	1	1	0
DPY19L2P2	349152	broad.mit.edu	37	7	102837638	102837638	+	RNA	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:102837638C>G	ENST00000312132.4	-	0	3533																											CCTTACCCGTCAAGAGCATAT	0.358000													3	54					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532170	140532170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:140532170G>T	ENST00000231136.1	+	1	2332	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*	PCDHB6_ENST00000543635.1_Nonsense_Mutation_p.E642*	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		778					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGGGCACTGAGAGAGAAAT	0.458000													7	60					0.0293803	0.0294842	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961455	34961455	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:34961455G>A	ENST00000329357.5	+	1	543	c.507G>A	c.(505-507)cgG>cgA	p.R169R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	169										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTGAGGCCCGGGAGAAGACAA	0.597000													20	7					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78076469	78076469	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:78076469G>T	ENST00000264914.4	-	8	1889	c.1353C>A	c.(1351-1353)ttC>ttA	p.F451L		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	451					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ACGGTGGAGGGAACCAGTAAC	0.483000													8	7					1.26484e-09	1.37631e-09	1	1	0
IMPDH2	3615	broad.mit.edu	37	3	49062406	49062406	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr3:49062406G>C	ENST00000326739.4	-	11	1257	c.1218C>G	c.(1216-1218)atC>atG	p.I406M		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	406					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TCTTTAGCCGGATCCCATCGG	0.542000													23	26					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53671733	53671733	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:53671733C>G	ENST00000262135.4	-	20	3085	c.2992G>C	c.(2992-2994)Gag>Cag	p.E998Q	RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E1032Q|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1032Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E998Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1032					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCAGTATTCTCTTTTACCTCA	0.363000													12	60					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27925036	27925036	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:27925036C>T	ENST00000413272.2	-	6	848	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	NUGGC_ENST00000341513.6_Missense_Mutation_p.E236K	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GCTACCTCTTCCGCCTTGAGG	0.483000													5	6					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211241	38211241	+	Silent	SNP	A	A	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr13:38211241A>G	ENST00000379705.3	-	11	3590	c.2733T>C	c.(2731-2733)caT>caC	p.H911H	TRPC4_ENST00000379681.3_Silent_p.H916H|TRPC4_ENST00000338947.5_Silent_p.H738H|TRPC4_ENST00000358477.2_Silent_p.H827H|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Silent_p.H770H|TRPC4_ENST00000355779.2_Silent_p.H770H|TRPC4_ENST00000379679.1_Silent_p.H738H|TRPC4_ENST00000379673.2_Silent_p.H762H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	911	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCTTTCTCTATGGTCTACTA	0.473000													25	22					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133538798	133538798	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:133538798C>G	ENST00000409261.1	-	15	5249	c.4876G>C	c.(4876-4878)Gat>Cat	p.D1626H	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1626H|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1626							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTTTCTTATCAACTCTGCAG	0.423000													4	42					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232324	58232324	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:58232324A>C	ENST00000317398.6	-	4	1225	c.1130T>G	c.(1129-1131)tTt>tGt	p.F377C	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.F279C|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTGCTAAAAAATTTCCCACA	0.463000													4	33					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755916	140755916	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:140755916G>A	ENST00000517434.1	+	1	2266	c.2266G>A	c.(2266-2268)Gag>Aag	p.E756K	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCCCACGAGGTCTCACT	0.577000													31	50					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17622074	17622074	+	Silent	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:17622074C>T	ENST00000336737.4	-	6	646	c.621G>A	c.(619-621)ctG>ctA	p.L207L	CECR5_ENST00000155674.5_Silent_p.L177L|CECR5_ENST00000399852.3_Silent_p.L70L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	207							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CATCCATGATCAGCTGCAGGC	0.652000													11	18					0	0	1	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199227	26199227	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:26199227C>T	ENST00000341023.1	-	1	244	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	82					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				CTGCAGGTGTCGGGGGATGAT	0.607000													15	102					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110211103	110211103	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:110211103G>A	ENST00000369831.2	+	2	187	c.93G>A	c.(91-93)aaG>aaA	p.K31K	GSTM2_ENST00000369829.2_Silent_p.K31K|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000369827.3_Silent_p.K29K|GSTM2_ENST00000241337.4_Silent_p.K31K|GSTM2_ENST00000460717.3_Silent_p.K31K|GSTM2_ENST00000442650.1_Silent_p.K31K					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACGAGGAAAAGAAGTACACGA	0.597000													34	44					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49953082	49953082	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr12:49953082G>A	ENST00000550165.1	-	14	1355	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	MCRS1_ENST00000357123.4_Silent_p.I376I|MCRS1_ENST00000546244.1_Silent_p.I172I|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000343810.4_Silent_p.I363I			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	363	FHA.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TGCCCAGGGTGATCTGGGGAA	0.567000													4	18					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10702655	10702655	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:10702655G>A	ENST00000379568.3	+	3	592	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	101					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				CAGTGGAGCGGAAGATGGACT	0.393000													38	48					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37667820	37667820	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:37667820G>A	ENST00000447079.4	+	8	2738	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	CDK12_ENST00000430627.2_Missense_Mutation_p.R902Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	902	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTGTGGTACCGACCTCCAGAA	0.388000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			5	62					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43159892	43159892	+	RNA	SNP	C	C	G			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr8:43159892C>G	ENST00000522175.2	+	0	748							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S295Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAAACAACTCTTCTGGAAAT	0.338000													9	48					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136162	46136162	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:46136162C>T	ENST00000362042.3	+	6	2094	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	NFE2L1_ENST00000583378.1_Missense_Mutation_p.S294F|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S463F|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S463F|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S482F|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S337F|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S305F	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	493					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTAAGCAGCTCTGAAGGCAGt	0.537000													4	58					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395292	94395292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr14:94395292C>T	ENST00000267594.5	+	3	1154	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	FAM181A_ENST00000557000.2_Nonsense_Mutation_p.Q221*|FAM181A_ENST00000557719.1_Nonsense_Mutation_p.Q221*|FAM181A_ENST00000556222.1_Nonsense_Mutation_p.Q221*	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	283										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GTACCATGGACAGCCCATCTA	0.657000													20	14					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56176987	56176987	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:56176987G>C	ENST00000399503.3	+	13	2257	c.2257G>C	c.(2257-2259)Gaa>Caa	p.E753Q		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	753					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAATTGGCAAGAACTTCTTGG	0.358000													15	43					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52477607	52477607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr19:52477607G>A	ENST00000243644.4	-	2	234	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	ZNF350_ENST00000600703.1_5'UTR|HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	3					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		ACCTGGGCCTGGATCATTTTC	0.358000													9	104					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587789	55587789	+	Silent	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:55587789G>A	ENST00000333976.4	+	1	704	c.684G>A	c.(682-684)aaG>aaA	p.K228K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCATCCTCAAGATGCGTTCAG	0.493000													19	62					0	0	1	0	0
MRPS21	54460	broad.mit.edu	37	1	150280533	150280533	+	Silent	SNP	T	T	C			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr1:150280533T>C	ENST00000369084.5	+	2	582	c.135T>C	c.(133-135)taT>taC	p.Y45Y	MRPS21_ENST00000309092.7_Silent_p.Y45Y	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	45					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGGTATTATGAGAAGCCAT	0.468000													28	41					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780572	88780572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr11:88780572G>A	ENST00000418177.2	-	2	836	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	GRM5_ENST00000393294.3_Nonsense_Mutation_p.Q157*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.Q157*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.Q157*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.Q157*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.Q157*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	157					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTCTGGACCTGAATGGCTACA	0.493000													17	48					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28634861	28634863	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr2:28634861_28634863delAGA	ENST00000264716.4	+	4	1390_1392	c.527_529delAGA	c.(526-531)gagaag>gag	p.K177del	FOSL2_ENST00000545753.1_In_Frame_Del_p.K138del|FOSL2_ENST00000379619.1_In_Frame_Del_p.K169del	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	177	Leucine-zipper.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTGCAGAAGGAGAAGGAGAAGCT	0.616													9	44	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755861	149755861	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr5:149755861delG	ENST00000451292.1	+	13	2218	c.2110delG	c.(2110-2112)gagfs	p.E704fs	TCOF1_ENST00000445265.2_Frame_Shift_Del_p.E627fs|TCOF1_ENST00000377797.3_Frame_Shift_Del_p.E704fs|TCOF1_ENST00000439160.2_Frame_Shift_Del_p.E704fs|TCOF1_ENST00000513346.1_Frame_Shift_Del_p.E704fs|TCOF1_ENST00000394269.3_Frame_Shift_Del_p.E704fs|TCOF1_ENST00000323668.7_Frame_Shift_Del_p.E627fs|TCOF1_ENST00000504761.2_Frame_Shift_Del_p.E704fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	704					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)			TAGTGAGGAAGAGAAGACAGG	0.587													35	141	---	---	---	---					
SOX4	6659	broad.mit.edu	37	6	21595252	21595263	+	In_Frame_Del	DEL	GGGGGCGGCCAT	GGGGGCGGCCAT	-			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:21595252_21595263delGGGGGCGGCCAT	ENST00000244745.1	+	1	1281_1292	c.487_498delGGGGGCGGCCAT	c.(487-498)gggggcggccatdel	p.GGGH163del	SOX4_ENST00000543472.1_In_Frame_Del_p.GGGH163del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	163					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			tggcagtggcgggggcggccatgggggcggcg	0.731													14	21	---	---	---	---					
HIST1H2AL	8332	broad.mit.edu	37	6	27833190	27833200	+	Frame_Shift_Del	DEL	TCTCGTGCCGG	TCTCGTGCCGG	-	rs112071135		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr6:27833190_27833200delTCTCGTGCCGG	ENST00000357320.2	+	1	157_167	c.58_68delTCTCGTGCCGG	c.(58-69)tctcgtgccggtfs	p.SRAG20fs		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	20					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GACCCGCTCTTCTCGTGCCGGTCTCCAGTTC	0.649													10	86	---	---	---	---					
LOC101928451	101928451	broad.mit.edu	37	7	128210234	128210235	+	RNA	INS	-	-	T	rs57917869		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr7:128210234_128210235insT	ENST00000605862.1	+	0	189																											agttttagttcttTTTTTTTTT	0.441													4	3	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15474136	15474140	+	Frame_Shift_Del	DEL	CTTAT	CTTAT	-			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr9:15474136_15474140delCTTAT	ENST00000380733.4	-	9	1068_1072	c.725_729delATAAG	c.(724-729)gataagfs	p.DK242fs	PSIP1_ENST00000380716.4_Frame_Shift_Del_p.DK242fs|PSIP1_ENST00000380738.4_Frame_Shift_Del_p.DK242fs|PSIP1_ENST00000397519.2_Frame_Shift_Del_p.DK242fs|PSIP1_ENST00000380715.1_Frame_Shift_Del_p.DK242fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	242					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTTTCTTGGCTTATCTTCTTCCTT	0.390													71	95	---	---	---	---					
TELO2	9894	broad.mit.edu	37	16	1547501	1547502	+	In_Frame_Ins	INS	-	-	GCACTG			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr16:1547501_1547502insGCACTG	ENST00000262319.6	+	5	1101_1102	c.822_823insGCACTG	c.(823-825)gca>GCACTGgca	p.275_275A>ALA		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	275						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)				TGGTGGAGGCCGCACTGGGGTA	0.683													3	3	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17699496	17699496	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr17:17699496delT	ENST00000353383.1	+	3	3703	c.3234delT	c.(3232-3234)cctfs	p.P1078fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.P1078fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1078						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCACCACCCCTGCACCCCCAG	0.706													2	4	---	---	---	---					
DSC3	1825	broad.mit.edu	37	18	28588043	28588049	+	Frame_Shift_Del	DEL	ATCCAGG	ATCCAGG	-	rs145079212		TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr18:28588043_28588049delATCCAGG	ENST00000434452.1	-	11	1750_1756	c.1596_1602delCCTGGAT	c.(1594-1602)atcctggatfs	p.ILD532fs	DSC3_ENST00000360428.4_Frame_Shift_Del_p.ILD532fs	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	532	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAACCTCCCTATCCAGGATTTTGGAAG	0.309													28	28	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													7	150	---	---	---	---					
RIPK4	54101	broad.mit.edu	37	21	43161561	43161562	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr21:43161561_43161562insTA	ENST00000352483.2	-	9	1999_2000	c.1935_1936insTA	c.(1933-1938)gtgaacfs	p.N646fs	RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.N598fs|RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.N535fs|RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.N535fs			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	598						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCTGGGCGTTCACACTCACCC	0.678													11	78	---	---	---	---					
ODF3B	440836	broad.mit.edu	37	22	50969465	50969465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chr22:50969465delG	ENST00000329363.4	-	5	577	c.441delC	c.(439-441)cccfs	p.P147fs	ODF3B_ENST00000428989.2_Frame_Shift_Del_p.P147fs|ODF3B_ENST00000403326.1_Frame_Shift_Del_p.P79fs|ODF3B_ENST00000401779.1_Frame_Shift_Del_p.L124fs|ODF3B_ENST00000405135.1_Frame_Shift_Del_p.L163fs	NM_001014440.3	NP_001014440.2	A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	147										lung(2)	2						CCAAGAGCGAGGGCACCGTAT	0.692													2	4	---	---	---	---					
PRPS1	5631	broad.mit.edu	37	X	106893253	106893254	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-4Z-AA80-01A-11D-A391-08	TCGA-4Z-AA80-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18f520c7-c8c6-42ea-a103-64bed0e002f2	8949cc6e-380b-41d7-ae6a-8ddfea37d60c	g.chrX:106893253_106893254delCC	ENST00000372435.4	+	7	1070_1071	c.948_949delCC	c.(946-951)gtccctfs	p.P317fs	PRPS1_ENST00000372428.4_Frame_Shift_Del_p.P250fs|PRPS1_ENST00000543248.1_Frame_Shift_Del_p.P317fs|PRPS1_ENST00000372418.1_Frame_Shift_Del_p.P217fs	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	317					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCAGCCATGTCCCTTTATAATA	0.426													8	172	---	---	---	---