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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	34					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160303315	160303315	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:160303315C>G	ENST00000392783.2	-	6	1169	c.674G>C	c.(673-675)aGa>aCa	p.R225T	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R225T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R223T|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R223T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	225	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTGTCAACTCTAGCATCCAA	0.358000													12	86					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408135	30408135	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:30408135G>A	ENST00000375994.2	+	2	532	c.259G>A	c.(259-261)Gcg>Acg	p.A87T	MYLK2_ENST00000375985.4_Missense_Mutation_p.A87T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	87			A -> V (in CMH).		cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGGGGGCCCGCGGAGGGCAG	0.682000													22	30					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420274	216420274	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:216420274A>G	ENST00000366943.2	-	13	2848	c.2462T>C	c.(2461-2463)gTt>gCt	p.V821A	USH2A_ENST00000307340.3_Missense_Mutation_p.V821A|USH2A_ENST00000366942.3_Missense_Mutation_p.V821A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	821	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTCCCTTCAACATTGGGCTT	0.478000										HNSCC(13;0.011)			17	46					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7608335	7608335	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:7608335C>T	ENST00000256861.6	-	13	2263	c.2185G>A	c.(2185-2187)Gcc>Acc	p.A729T	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A515T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A511T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	729					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTGGAGGGGCGGGTGCCCCA	0.512000													8	25					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505300	159505300	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:159505300C>A	ENST00000334857.2	-	1	542	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CACAGAACGGCAAATTGAACA	0.443000													11	65					1.58986e-06	1.6931e-06	1	1	0
ST3GAL6	10402	broad.mit.edu	37	3	98512578	98512578	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:98512578C>A	ENST00000265261.6	+	10	1037	c.615C>A	c.(613-615)aaC>aaA	p.N205K	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.N323K|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.N323K	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	323					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TAGAAAAAAACCTCGTAATCA	0.328000													20	26					1.10513e-12	1.24994e-12	1	1	0
NUP88	4927	broad.mit.edu	37	17	5322813	5322813	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:5322813G>A	ENST00000573584.1	-	1	667	c.158C>T	c.(157-159)cCg>cTg	p.P53L		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	53					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CAGCAACTGCGGCGGCGGCGA	0.597000													54	48					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134312379	134312379	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:134312379G>C	ENST00000275230.5	-	5	1923	c.1768C>G	c.(1768-1770)Caa>Gaa	p.Q590E		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	590						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTTCTTTTTTGAGGCTGTTTT	0.433000													48	88					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094135	150094135	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:150094135C>G	ENST00000329630.5	+	3	673	c.566C>G	c.(565-567)gCc>gGc	p.A189G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCGGCCCGCCACCCACTCG	0.736000													3	11					0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123480505	123480505	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:123480505G>A	ENST00000371139.4	+	1	312	c.13G>A	c.(13-15)Gct>Act	p.A5T	SH2D1A_ENST00000360027.4_Missense_Mutation_p.A5T|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	5					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGACGCAGTGGCTGTGTATCA	0.602000													40	16					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101815012	101815012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:101815012C>T	ENST00000263468.8	+	3	535	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	89							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAGGAGAAACGAAAAGAACA	0.313000													16	18					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153595857	153595857	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:153595857G>A	ENST00000422373.1	-	5	1024	c.776C>T	c.(775-777)aCc>aTc	p.T259I	FLNA_ENST00000360319.4_Missense_Mutation_p.T259I|FLNA_ENST00000344736.4_Missense_Mutation_p.T259I|FLNA_ENST00000369850.3_Missense_Mutation_p.T259I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	259	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GGACAGGTAGGTCATGACAGA	0.617000													45	15					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57553653	57553653	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:57553653A>G	ENST00000243077.3	+	12	2310	c.1844A>G	c.(1843-1845)aAt>aGt	p.N615S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	615					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGGAGACAATCTGTACTGG	0.537000													32	62					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271482	59271482	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:59271482T>C	ENST00000313253.1	+	1	434	c.434T>C	c.(433-435)aTc>aCc	p.I145T		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTGCCCTCATCTCTGCCTCT	0.517000													57	90					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8178675	8178675	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:8178675C>T	ENST00000402384.3	-	11	1224	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ICA1_ENST00000422063.2_Missense_Mutation_p.E349K|ICA1_ENST00000396675.3_Missense_Mutation_p.E320K|ICA1_ENST00000265577.7_Missense_Mutation_p.E319K|ICA1_ENST00000401396.1_Missense_Mutation_p.E308K|ICA1_ENST00000406470.2_Missense_Mutation_p.E320K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	320					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTCCATCTTCAGCTGTAATA	0.373000													9	39					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52644945	52644945	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:52644945C>G	ENST00000395961.3	-	4	875	c.709G>C	c.(709-711)Gtc>Ctc	p.V237L	BCAS1_ENST00000371435.2_Missense_Mutation_p.V237L|BCAS1_ENST00000371440.3_Missense_Mutation_p.V237L|BCAS1_ENST00000411563.1_Missense_Mutation_p.V140L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	237						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGCAGGGACATCATCGGAC	0.537000													74	178					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39071027	39071027	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:39071027C>T	ENST00000355481.4	+	100	14645	c.14514C>T	c.(14512-14514)ggC>ggT	p.G4838G	RYR1_ENST00000360985.3_Silent_p.G4838G|RYR1_ENST00000359596.3_Silent_p.G4843G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4843			L -> V (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGACCGTGGGCCTTCTGGCGG	0.627000													17	25					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56079042	56079042	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:56079042C>T	ENST00000257879.6	-	25	3429	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	ITGA7_ENST00000394230.2_Silent_p.P1113P|ITGA7_ENST00000347027.6_Missense_Mutation_p.E1066K|ITGA7_ENST00000257880.7_Silent_p.P1153P|ITGA7_ENST00000394229.2_Silent_p.P1109P|ITGA7_ENST00000452168.2_Missense_Mutation_p.E979K|ITGA7_ENST00000555728.1_Missense_Mutation_p.E1116K|ITGA7_ENST00000553804.1_Missense_Mutation_p.E1076K	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1116					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACGGTGGCCTCGGGGTGCTTC	0.602000													10	55					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36499189	36499189	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:36499189G>T	ENST00000342292.4	-	1	504	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	162						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCAGGGCCAGCTGTAGGTGG	0.647000													26	65					6.36457e-07	6.86704e-07	1	1	0
STARD13	90627	broad.mit.edu	37	13	33679799	33679799	+	Silent	SNP	T	T	A	rs149865098	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr13:33679799T>A	ENST00000336934.5	-	14	3389	c.3273A>T	c.(3271-3273)gcA>gcT	p.A1091A	STARD13_ENST00000399365.3_Silent_p.A973A|STARD13_ENST00000255486.4_Silent_p.A1083A	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1091	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAACTTCTGCTGCACACAGAT	0.468000													40	20					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133958	119133958	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:119133958G>C	ENST00000264245.4	+	12	3714	c.3182G>C	c.(3181-3183)gGt>gCt	p.G1061A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1061					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						AGGCAAGGTGGTGTTCCTGGG	0.587000													110	134					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72968448	72968448	+	Silent	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:72968448T>C	ENST00000272427.6	-	2	394	c.264A>G	c.(262-264)gaA>gaG	p.E88E	EXOC6B_ENST00000410104.1_Silent_p.E88E	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	88					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTTTCTGGGCTTCTCCTCTCA	0.403000													58	77					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	37					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461016	160461016	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:160461016G>A	ENST00000368059.3	-	3	614	c.545C>T	c.(544-546)tCc>tTc	p.S182F	SLAMF6_ENST00000368055.1_Missense_Mutation_p.S71F|SLAMF6_ENST00000368057.3_Missense_Mutation_p.S182F	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	182	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GGGGTCCCAGGAGACAGTGAG	0.493000													14	71					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81334750	81334750	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:81334750C>G	ENST00000222390.5	-	17	2192	c.1966G>C	c.(1966-1968)Gaa>Caa	p.E656Q	HGF_ENST00000457544.2_Missense_Mutation_p.E651Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	656	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.E656K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCACATATTTCAGACTCATTC	0.408000													3	62					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914379	147914379	+	Splice_Site	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:147914379G>C	ENST00000361727.3	+	19	3526		c.e19-1		CNTNAP2_ENST00000538075.1_Splice_Site	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						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)			CTTTATAACAGATGTTGGTGC	0.478000										HNSCC(39;0.1)			33	48					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195395471	195395471	+	RNA	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:195395471T>A	ENST00000445430.1	+	0	878																											AGGGCAGGCCTTCCTTGCCAG	0.612000													11	59					0	0	1	0	0
KDELC2	143888	broad.mit.edu	37	11	108350156	108350156	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:108350156C>T	ENST00000434945.2	-	5	1299	c.997G>A	c.(997-999)Gac>Aac	p.D333N	KDELC2_ENST00000375648.1_Missense_Mutation_p.D333N|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Missense_Mutation_p.D389N			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	389						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACCAGACTGTCGCCCAGCATG	0.388000													13	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615135	179615135	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179615135A>G	ENST00000360870.5	-	46	12214	c.11992T>C	c.(11992-11994)Tat>Cat	p.Y3998H	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9814							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATATTGAATAGTTTTCCAAC	0.338000													22	36					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123150333	123150333	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:123150333C>T	ENST00000264501.4	+	25	3353	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R994C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R994C			Q2LD37	K1109_HUMAN	KIAA1109	994					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTATGATTCGTTTAGCAGT	0.358000													25	24					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297647	77297647	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:77297647G>A	ENST00000393774.3	+	3	443	c.319G>A	c.(319-321)Gag>Aag	p.E107K	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.E90K	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	107										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAACATGGAGGAGTCCTACGT	0.537000													44	65					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614363	148614363	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:148614363T>A	ENST00000296046.3	+	11	1175	c.1123T>A	c.(1123-1125)Ttt>Att	p.F375I	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	375					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAAACACACATTTGCCTTTGA	0.408000													24	67					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582020	189582020	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:189582020G>A	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000354600.5_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458000										HNSCC(45;0.13)			165	142					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3005477	3005477	+	Silent	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:3005477C>A	ENST00000262953.6	-	17	2116	c.1854G>T	c.(1852-1854)ctG>ctT	p.L618L	TLE2_ENST00000447365.2_Silent_p.L285L|TLE2_ENST00000443826.3_Silent_p.L496L|TLE2_ENST00000426948.2_Silent_p.L632L|TLE2_ENST00000591529.1_Silent_p.L632L|TLE2_ENST00000590536.1_Silent_p.L619L|TLE2_ENST00000455444.2_Silent_p.L496L|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	618					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GGCCCTCCCGCAGGTCCCAGC	0.632000													9	24					0.000274275	0.000284691	1	1	0
VGLL4	9686	broad.mit.edu	37	3	11643423	11643423	+	Silent	SNP	G	G	T	rs151086238	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:11643423G>T	ENST00000273038.3	-	3	503	c.138C>A	c.(136-138)acC>acA	p.T46T	VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000430365.2_Silent_p.T52T|VGLL4_ENST00000413604.1_5'UTR	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592000													8	47					0.000157383	0.0001644	1	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157865	26157865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:26157865G>T	ENST00000325250.1	+	2	950	c.763G>T	c.(763-765)Gag>Tag	p.E255*		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	255	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAAGTACCTGGAGTACCAGCA	0.473000													12	7					7.93312e-07	8.50348e-07	1	1	0
THOC2	57187	broad.mit.edu	37	X	122747346	122747346	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:122747346G>C	ENST00000245838.8	-	36	4612	c.4581C>G	c.(4579-4581)gaC>gaG	p.D1527E	THOC2_ENST00000491737.1_Missense_Mutation_p.D1412E|THOC2_ENST00000355725.4_Missense_Mutation_p.D1527E|THOC2_ENST00000464992.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1527	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTTTTCCTTGTCTTTCTCAT	0.333000													30	4					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959704	16959704	+	RNA	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:16959704C>A	ENST00000412962.1	-	0	74																											TCTCGTGGAGCACCTTGTCCC	0.667000													8	44					0.00307968	0.00317652	1	1	0
SALL1	6299	broad.mit.edu	37	16	51175040	51175040	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:51175040C>T	ENST00000440970.1	-	2	1233	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	SALL1_ENST00000251020.4_Missense_Mutation_p.V365I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	365					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGTTGCTGACATGGGAGGCC	0.522000													25	70					0	0	1	0	0
C19orf66	55337	broad.mit.edu	37	19	10200662	10200662	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:10200662G>T	ENST00000397881.3	+	5	647	c.170G>T	c.(169-171)cGg>cTg	p.R57L	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.R108L|C19orf66_ENST00000253110.11_Missense_Mutation_p.R108L			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	108										large_intestine(3)|skin(1)	4						GCTGTGGACCGGCAGTTTGCC	0.607000													6	9					2.7689e-08	3.06824e-08	1	1	0
RORB	6096	broad.mit.edu	37	9	77280437	77280437	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:77280437G>C	ENST00000376896.2	+	7	1538	c.926G>C	c.(925-927)cGt>cCt	p.R309P	RORB_ENST00000396204.2_Missense_Mutation_p.R320P	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	320	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	p.R309H(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGAATGTGCCGTGCCTTCAAC	0.313000													29	64					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170468	72170468	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:72170468C>T	ENST00000537465.1	-	9	1240	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	PMFBP1_ENST00000237353.10_Missense_Mutation_p.R361Q|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R216Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	361										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGTCTCCTCCCGCAGTCCGTG	0.587000													25	78					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955496	215955496	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:215955496C>A	ENST00000366943.2	-	54	11014	c.10628G>T	c.(10627-10629)cGt>cTt	p.R3543L	USH2A_ENST00000307340.3_Missense_Mutation_p.R3543L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3543	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R3543H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCCGAAAACGTTCAATTCC	0.378000										HNSCC(13;0.011)			19	52					3.32936e-07	3.61599e-07	1	1	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16258050	16258050	+	RNA	SNP	C	C	T	rs203448	by1000genomes	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258050C>T	ENST00000570786.1	+	0	405				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						TAAACCTGCCCGTGACCTTGT	0.542000													7	29					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76879032	76879032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:76879032G>A	ENST00000356260.5	-	18	1664	c.1546C>T	c.(1546-1548)Caa>Taa	p.Q516*	SDAD1_ENST00000395711.4_Nonsense_Mutation_p.Q479*	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	516					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAGAGTGTTGCACATCAATC	0.413000													44	152					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564678	179564678	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:179564678C>T	ENST00000393371.2	-	2	508	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R71H			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	71	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGAAGAGGCGAGAGCTCAG	0.642000													14	19					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5808504	5808504	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:5808504C>G	ENST00000380191.4	-	9	1379	c.1089G>C	c.(1087-1089)gaG>gaC	p.E363D	GDI2_ENST00000380132.4_Missense_Mutation_p.E367D|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.E318D	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	363					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGATTTCCTTCTCAGGCTCCT	0.433000													31	42					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81388012	81388012	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:81388012G>T	ENST00000222390.5	-	3	589	c.363C>A	c.(361-363)aaC>aaA	p.N121K	HGF_ENST00000423064.2_Missense_Mutation_p.N121K|HGF_ENST00000354224.6_Missense_Mutation_p.N121K|HGF_ENST00000453411.1_Missense_Mutation_p.N121K|HGF_ENST00000453018.1_Missense_Mutation_p.N18K|HGF_ENST00000457544.2_Missense_Mutation_p.N121K|HGF_ENST00000444829.2_Missense_Mutation_p.N121K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	121	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGTTACCTTTGTTTTCATAGA	0.338000													18	23					2.94398e-08	3.24036e-08	1	1	0
FAAH	2166	broad.mit.edu	37	1	46877317	46877317	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:46877317G>T	ENST00000243167.8	+	12	1434	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	450					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGCAGCACGAGATCGAGGTGA	0.617000													4	28					0.150653	0.150653	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70866118	70866118	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:70866118C>T	ENST00000322773.4	+	32	2281	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	COL19A1_ENST00000393344.1_Missense_Mutation_p.R349W	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	727	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTCCATGGCCCGGAAGGTGAG	0.502000													15	46					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369841	78369841	+	Silent	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:78369841A>G	ENST00000278550.7	-	34	8034	c.7572T>C	c.(7570-7572)tgT>tgC	p.C2524C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TCTGTACTTCACACTGTACCC	0.493000													4	85					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959452	75959452	+	Silent	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:75959452G>T	ENST00000307630.3	-	2	408	c.186C>A	c.(184-186)gtC>gtA	p.V62V		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	62					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGCTACTGATGACCCTCCAGG	0.532000													23	119					8.04996e-18	9.29713e-18	1	1	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16258143	16258143	+	RNA	SNP	T	T	G	rs112702106		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258143T>G	ENST00000570786.1	+	0	498				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						TCCGCGGAACTTACAGGTCCA	0.607000													4	12					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994009	140994009	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:140994009C>T	ENST00000285879.4	+	4	1105	c.819C>T	c.(817-819)agC>agT	p.S273S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	273							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTTCT	0.488000										HNSCC(15;0.026)			71	32					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50322477	50322477	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:50322477G>A	ENST00000312865.6	+	3	282	c.229G>A	c.(229-231)Gct>Act	p.A77T	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	77	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGTGGACTGCGCTCCCGAGTC	0.552000													23	41					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982528	75982528	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr15:75982528G>A	ENST00000308508.5	-	3	970	c.878C>T	c.(877-879)gCt>gTt	p.A293V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	293	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCCGGTGAGCATTGATGTG	0.622000													9	41					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076416	87076416	+	Silent	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:87076416G>A	ENST00000276616.2	-	2	704	c.630C>T	c.(628-630)tcC>tcT	p.S210S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	210	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TTTTTTTCCCGGAGTATGCCA	0.423000													14	26					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78180383	78180383	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:78180383T>C	ENST00000370793.1	-	20	2570	c.2224A>G	c.(2224-2226)Att>Gtt	p.I742V	USP33_ENST00000370794.3_Missense_Mutation_p.I711V|USP33_ENST00000370792.3_Missense_Mutation_p.I734V|USP33_ENST00000357428.1_Missense_Mutation_p.I742V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	742	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTCGAGAAATATAAAACTGA	0.373000													5	55					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296729	29296729	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:29296729C>A	ENST00000331664.5	-	1	398	c.399G>T	c.(397-399)gaG>gaT	p.E133D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	133					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTTCCTCACTCTCATCTCCAG	0.478000													34	50					3.33393e-15	3.82353e-15	1	1	0
IGHA2	3494	broad.mit.edu	37	14	106054663	106054663	+	RNA	SNP	C	C	T	rs116634885	by1000genomes	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:106054663C>T	ENST00000390539.2	-	0	69																											AGGCATGCGACGACCACGTTC	0.632000													5	102					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139417630	139417630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:139417630G>T	ENST00000277541.6	-	4	489	c.414C>A	c.(412-414)tgC>tgA	p.C138*	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	138	EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCCTGCTGGCACGATTTCC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			13	3					1.05317e-09	1.17497e-09	1	1	0
CILP2	148113	broad.mit.edu	37	19	19655470	19655470	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:19655470C>T	ENST00000586018.1	+	8	2236	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	CILP2_ENST00000291495.4_Missense_Mutation_p.R706W			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	706						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCGGGCCCCCGGGTGCGCCG	0.716000													4	14					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999149	92999149	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:92999149C>T	ENST00000523629.1	-	8	1497	c.1043G>A	c.(1042-1044)aGa>aAa	p.R348K	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R359K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R311K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R321K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R311K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R311K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R348K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R321K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	348	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCCATTCTCTGTCTGTTAG	0.388000													10	142					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860198	16860198	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:16860198G>A	ENST00000524140.2	+	6	1163	c.745G>A	c.(745-747)Gac>Aac	p.D249N	NWD1_ENST00000523826.1_Missense_Mutation_p.D43N|NWD1_ENST00000379808.3_Missense_Mutation_p.D249N|NWD1_ENST00000339803.6_Missense_Mutation_p.D114N|NWD1_ENST00000552788.1_Missense_Mutation_p.D249N|NWD1_ENST00000549814.1_Missense_Mutation_p.D249N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	249							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGAGCCGCGACTTGGTGAA	0.602000													4	77					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48381711	48381711	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:48381711C>G	ENST00000264313.6	+	4	1126	c.708C>G	c.(706-708)aaC>aaG	p.N236K	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Missense_Mutation_p.N43K	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	236						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TTTAAGGTAACTTGAAAAGCT	0.318000													14	19					0	0	1	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44028815	44028815	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:44028815A>G	ENST00000260605.8	+	10	869	c.769A>G	c.(769-771)Atc>Gtc	p.I257V	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.I131V|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.I258V	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	257						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCGCTGTTTATCACAGCAGG	0.348000													4	18					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3584812	3584812	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:3584812A>G	ENST00000262919.5	+	24	3772	c.3704A>G	c.(3703-3705)aAa>aGa	p.K1235R	ATRN_ENST00000446916.2_Missense_Mutation_p.K1235R	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1235					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAGGAGTACAAAGATAGTTTC	0.363000													12	17					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8942974	8942974	+	Silent	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:8942974C>G	ENST00000326053.5	-	6	1399	c.1293G>C	c.(1291-1293)ctG>ctC	p.L431L	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	431										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTTCGAGACCAGCTCCTTGG	0.498000													35	45					0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622180	29622180	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:29622180G>T	ENST00000247271.4	-	2	1431	c.1170C>A	c.(1168-1170)ttC>ttA	p.F390L	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	390					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)		GCATTTCAGAGAAATTATTTG	0.428000													36	213					1.836e-18	2.15074e-18	1	1	0
KIAA0391	9692	broad.mit.edu	37	14	35592829	35592829	+	Silent	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:35592829A>G	ENST00000557565.1	+	2	759	c.378A>G	c.(376-378)aaA>aaG	p.K126K	KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.K126K|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.K31K|KIAA0391_ENST00000603544.1_Silent_p.K126K|KIAA0391_ENST00000321130.10_Silent_p.K126K|KIAA0391_ENST00000250377.7_Silent_p.K31K			O15091	MRRP3_HUMAN	KIAA0391	126					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGTGGGATAAACTTAAGGAAG	0.408000													22	20					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471911	47471911	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:47471911C>T	ENST00000266581.4	-	2	1341	c.875G>A	c.(874-876)cGt>cAt	p.R292H	AMIGO2_ENST00000550413.1_Missense_Mutation_p.R292H|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R292H|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R292H	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	292	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GCCAAGCGCACGAAAGGAACC	0.507000													4	106					0	0	1	0	0
ATP5L	10632	broad.mit.edu	37	11	118277667	118277667	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:118277667C>G	ENST00000300688.3	+	2	580	c.68C>G	c.(67-69)tCg>tGg	p.S23W	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Missense_Mutation_p.S23W	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	23					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	p.S23L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	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;3.07e-05)		GTGACTTACTCGAAGCCTCGA	0.458000													8	10					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771720	229771720	+	Missense_Mutation	SNP	C	C	T	rs115399585	by1000genomes	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:229771720C>T	ENST00000258243.2	+	4	1496	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	454						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGCGCTTATTCGTACTGTCTT	0.522000													50	106					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30783830	30783830	+	Silent	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:30783830G>T	ENST00000256079.4	-	25	3416	c.3078C>A	c.(3076-3078)tcC>tcA	p.S1026S	IPO8_ENST00000544829.1_Silent_p.S821S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1026					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AATTAAATGCGGAGAGGACTC	0.413000													24	41					2.08973e-25	2.46558e-25	1	1	0
MEF2C	4208	broad.mit.edu	37	5	88018473	88018473	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:88018473C>G	ENST00000504921.2	-	10	2042	c.1370G>C	c.(1369-1371)aGg>aCg	p.R457T	MEF2C_ENST00000514015.1_Missense_Mutation_p.R425T|MEF2C_ENST00000424173.2_Missense_Mutation_p.R447T|MEF2C_ENST00000539796.1_Missense_Mutation_p.R401T|MEF2C_ENST00000514028.1_Missense_Mutation_p.R457T|MEF2C_ENST00000510942.1_Missense_Mutation_p.R449T|MEF2C_ENST00000437473.2_Missense_Mutation_p.R457T|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000340208.5_Missense_Mutation_p.R467T|MEF2C_ENST00000508569.1_Missense_Mutation_p.R417T			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	457					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic 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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GGGACTTTCCCTTTCGTCCGG	0.493000										HNSCC(66;0.2)			77	69					0	0	1	0	0
LY86-AS1	285780	broad.mit.edu	37	6	6347394	6347394	+	RNA	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:6347394A>G	ENST00000429345.1	-	0	1244					NR_026970.1																						AGTTTGGTTGACTGATGCTTC	0.483000													3	5					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101833498	101833498	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr13:101833498A>C	ENST00000376196.3	-	15	2114	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	NALCN_ENST00000251127.6_Intron|NALCN_ENST00000470333.1_5'UTR			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	0						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCCCAAGCCACGCAGATGCC	0.542000													66	58					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36639950	36639950	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:36639950C>A	ENST00000373448.2	-	3	2507	c.2269G>T	c.(2269-2271)Gtc>Ttc	p.V757F	TTI1_ENST00000373447.3_Missense_Mutation_p.V757F|TTI1_ENST00000449821.1_Missense_Mutation_p.V757F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	757							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGAACGCTGACAAAGGAAGCA	0.493000													11	19					0.00829132	0.00844581	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18022345	18022345	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:18022345C>T	ENST00000205890.5	+	2	569	c.231C>T	c.(229-231)cgC>cgT	p.R77R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	77	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAAGGCCCGCACCGTGCTCA	0.617000													11	8					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	G	rs55863639		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:7579312C>G	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice	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)			28	37					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101353835	101353835	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:101353835A>G	ENST00000344327.3	-	5	1779	c.1355T>C	c.(1354-1356)aTt>aCt	p.I452T	TRPC6_ENST00000360497.4_Missense_Mutation_p.I397T|TRPC6_ENST00000532133.1_Missense_Mutation_p.I452T|TRPC6_ENST00000348423.4_Missense_Mutation_p.I336T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	452					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCCAGAAAAATGGTGAAGGA	0.428000													22	39					0	0	1	0	0
SGK494	124923	broad.mit.edu	37	17	26938788	26938788	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:26938788C>A	ENST00000301037.5	-	8	718	c.719G>T	c.(718-720)cGa>cTa	p.R240L	SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_3'UTR	NM_001174103.1	NP_001167574.1												p.R279Q(1)									AGACTTACCTCGTTCATCTAG	0.428000													4	203					0.150653	0.150653	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102053472	102053472	+	Missense_Mutation	SNP	G	G	A	rs149018411	byFrequency	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:102053472G>A	ENST00000549145.1	+	18	1854	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	MYBPC1_ENST00000553190.1_Missense_Mutation_p.R572Q|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R473Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R597Q|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R572Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R546Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R572Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R558Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R597Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R560Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R572Q|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R559Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R553Q			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	572	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.R572Q(1)|p.R597Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGCAGTGGCCGGATAAGAACA	0.408000													16	44					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33617574	33617574	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:33617574C>T	ENST00000170564.2	+	19	3014	c.2700C>T	c.(2698-2700)tcC>tcT	p.S900S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	900						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCGAGAGTTCCGACAGCAGCG	0.483000											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	65					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7573926	7573926	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:7573926C>T	ENST00000420246.2	-	11	1366		c.e11+1		TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(2)		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)		AGGTCACTCACCTGGAGTGAG	0.592000		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)			6	7					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24750790	24750790	+	Silent	SNP	A	A	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:24750790A>C	ENST00000336930.6	+	2	204	c.138A>C	c.(136-138)acA>acC	p.T46T	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	46						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTCAGCTGACAAAGACATCAA	0.413000													23	74					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18827673	18827673	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:18827673T>C	ENST00000446231.2	-	58	10665	c.10253A>G	c.(10252-10254)cAt>cGt	p.H3418R	SMG1_ENST00000389467.3_Missense_Mutation_p.H3419R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3418					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTGTCGGTTATGACCAGTGAG	0.393000													25	23					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152710807	152710807	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chrX:152710807C>T	ENST00000330912.2	-	13	1632	c.82G>A	c.(82-84)Gcc>Acc	p.A28T	TREX2_ENST00000393862.2_Missense_Mutation_p.A28T|TREX2_ENST00000370232.1_Missense_Mutation_p.A71T|TREX2_ENST00000370231.2_Missense_Mutation_p.A28T|TREX2_ENST00000338525.2_Missense_Mutation_p.A28T|TREX2_ENST00000402951.1_Missense_Mutation_p.A71T|TREX2_ENST00000414588.1_Missense_Mutation_p.A70T|TREX2_ENST00000334497.2_Missense_Mutation_p.A71T			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	71					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAGCTCGGCAATCTCGGGC	0.642000								Editing and processing nucleases					7	2					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50045040	50045040	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:50045040G>A	ENST00000335154.5	-	16	1941	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	FMNL3_ENST00000352151.5_Missense_Mutation_p.R519W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R570W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R570W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	570	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACAGGCAGCCGGAACTTGGTC	0.517000													29	50					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491567	4491567	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:4491567C>T	ENST00000301284.4	+	5	558	c.494C>T	c.(493-495)tCg>tTg	p.S165L	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S165L	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		165	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TTCCAGATGTCGGTCTCGAAA	0.622000													21	36					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41173407	41173407	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:41173407C>T	ENST00000252891.4	-	10	1963	c.1796G>A	c.(1795-1797)gGc>gAc	p.G599D	NUMBL_ENST00000540131.1_Missense_Mutation_p.G558D|NUMBL_ENST00000598779.1_Missense_Mutation_p.G558D	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	599					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTGCAGGTCGCCAGAAAAGGG	0.612000													3	11					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													5	11					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126059561	126059561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:126059561G>A	ENST00000318410.7	-	20	2741	c.2392C>T	c.(2392-2394)Caa>Taa	p.Q798*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.Q650*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	798					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TACATGCTTTGCCAATCTTGA	0.353000													11	52					0	0	1	0	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16258063	16258063	+	RNA	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258063G>A	ENST00000570786.1	+	0	418				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						GACCTTGTCAGCCTCGGCCAC	0.547000													9	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590629	179590629	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179590629T>C	ENST00000589042.1	-	70	20644	c.20420A>G	c.(20419-20421)tAc>tGc	p.Y6807C	TTN_ENST00000342992.6_Missense_Mutation_p.Y5563C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Y6490C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6490	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAATCTTGTATTTCTTGCT	0.428000													12	18					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438683	58438683	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:58438683C>T	ENST00000396147.1	-	4	1157	c.866G>A	c.(865-867)gGa>gAa	p.G289E	ZNF418_ENST00000425570.3_Missense_Mutation_p.G310E|ZNF418_ENST00000595830.1_Missense_Mutation_p.G289E|ZNF418_ENST00000599852.1_Missense_Mutation_p.G204E|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		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;0.0158)		CCCACATTCTCCACATTCATA	0.433000													51	114					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17747236	17747236	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:17747236A>G	ENST00000375436.4	-	7	1020	c.833T>C	c.(832-834)tTt>tCt	p.F278S	RCC2_ENST00000375433.3_Missense_Mutation_p.F278S	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	278					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGGGCACCCAAAGGAATAGAG	0.413000													3	58					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20386258	20386258	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:20386258C>T	ENST00000302451.4	-	5	815	c.567G>A	c.(565-567)gaG>gaA	p.E189E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	189					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CATAGAACAACTCTGCTACTT	0.443000													14	127					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:169169G>A	ENST00000399953.3	-	3	676	c.274C>T	c.(274-276)Cga>Tga	p.R92*	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	92							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478000													4	6					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73023285	73023285	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:73023285T>A	ENST00000264839.7	+	24	3587	c.3587T>A	c.(3586-3588)gTt>gAt	p.V1196D	RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.V153D|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.V667D|RIMS1_ENST00000491071.2_Missense_Mutation_p.V1170D|RIMS1_ENST00000521978.1_Missense_Mutation_p.V1347D|RIMS1_ENST00000348717.5_Missense_Mutation_p.V1139D|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.V1139D|RIMS1_ENST00000518273.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1347					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCAGTGATGTTTCCGCCATT	0.453000													10	19					0	0	1	0	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16258116	16258116	+	RNA	SNP	G	G	A	rs113786825		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258116G>A	ENST00000570786.1	+	0	471				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						CGATGATGCGGTTGCTAGCGG	0.582000													5	24					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671862	125671862	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:125671862C>G	ENST00000431078.1	+	24	4282	c.3918C>G	c.(3916-3918)atC>atG	p.I1306M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1306					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1306I(1)		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)		AATATTTCATCTGAGAAACTG	0.378000													15	20					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140125940	140125940	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:140125940G>T	ENST00000275874.5	+	5	983	c.785G>T	c.(784-786)tGc>tTc	p.C262F	RAB19_ENST00000356407.3_Missense_Mutation_p.C215F|RAB19_ENST00000537763.1_Missense_Mutation_p.C215F			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	215					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AAGACCCACTGCACTTGCTAA	0.577000													18	48					2.37509e-13	2.70497e-13	1	1	0
BICC1	80114	broad.mit.edu	37	10	60549041	60549041	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:60549041T>A	ENST00000373886.3	+	7	624	c.620T>A	c.(619-621)cTg>cAg	p.L207Q		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	207					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						CCTTTGGTGCTGATGTTTGAG	0.378000													21	19					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32093099	32093099	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:32093099C>T	ENST00000438447.1	+	21	8202	c.7814C>T	c.(7813-7815)aCt>aTt	p.T2605I	PDZD2_ENST00000282493.3_Missense_Mutation_p.T2605I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2605					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCATCCTAACTCTCATTCAG	0.458000											OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	76					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73230854	73230854	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:73230854C>A	ENST00000377110.2	-	17	2703	c.2460G>T	c.(2458-2460)aaG>aaT	p.K820N	TRPM3_ENST00000377105.1_Missense_Mutation_p.K679N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K820N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K682N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K847N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K679N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K692N|TRPM3_ENST00000396292.4_Missense_Mutation_p.K692N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K824N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K667N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K669N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K682N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	845						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTCTTTTTCCTTTGTGGGCT	0.468000													62	22					1.26778e-28	1.50664e-28	1	1	0
DBX2	440097	broad.mit.edu	37	12	45429828	45429828	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:45429828C>A	ENST00000332700.6	-	2	644	c.473G>T	c.(472-474)cGc>cTc	p.R158L		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ggatgcagggcgccgacagga	0.493000													4	12					0.00909568	0.00920797	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137650128	137650128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:137650128G>T	ENST00000371817.3	+	18	2335	c.1921G>T	c.(1921-1923)Gag>Tag	p.E641*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	641	Triple-helical region.			E -> G (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTTGCCAGGCGAGAAGGGCCA	0.622000													57	35					5.52965e-18	6.43165e-18	1	1	0
PAXIP1	22976	broad.mit.edu	37	7	154738073	154738073	+	Splice_Site	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:154738073A>G	ENST00000404141.1	-	20	3349		c.e20+1		PAXIP1_ENST00000473219.1_Splice_Site|PAXIP1_ENST00000397192.1_Splice_Site_p.Y1066_splice			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1						DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGGAAAGGATATGATTCATAG	0.403000													41	76					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401459	114401459	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:114401459G>A	ENST00000536312.1	-	6	1163	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	NXPE1_ENST00000424269.1_Missense_Mutation_p.H91Y|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		GTGTTCACATGGGTGAAAGGT	0.488000													38	93					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	58					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467569	164467569	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:164467569A>G	ENST00000333129.3	-	3	1087	c.773T>C	c.(772-774)gTg>gCg	p.V258A	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	258	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCCAGACCCCACAGCAGTCTG	0.622000													21	45					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888484	12888484	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:12888484G>C	ENST00000535591.1	-	2	235	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	14										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCACCATCAGCTTCAGGGCC	0.622000													26	52					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212768	62212768	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:62212768G>A	ENST00000519846.1	+	3	854	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.G128R|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	128	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGGTTCCCCGGGGTGCTGGA	0.483000													14	40					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329471	69329471	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr15:69329471T>C	ENST00000260364.5	+	9	1539	c.1238T>C	c.(1237-1239)tTc>tCc	p.F413S	NOX5_ENST00000455873.3_Missense_Mutation_p.F396S|NOX5_ENST00000530406.2_Missense_Mutation_p.F403S|NOX5_ENST00000448182.3_Missense_Mutation_p.F385S|NOX5_ENST00000388866.3_Missense_Mutation_p.F431S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	431	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTTGTTTTTCCTGGAGAAG	0.562000													74	31					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31025786	31025786	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:31025786G>A	ENST00000355537.3	+	3	2350	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCTGCCGGCGTCCAGCAACC	0.567000													48	115					0	0	1	0	0
FGF8	2253	broad.mit.edu	37	10	103530240	103530240	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:103530240G>A	ENST00000347978.2	-	5	663	c.494C>T	c.(493-495)aCg>aTg	p.T165M	FGF8_ENST00000344255.3_Missense_Mutation_p.T183M|FGF8_ENST00000320185.2_Missense_Mutation_p.T194M|FGF8_ENST00000346714.3_Missense_Mutation_p.T154M|FGF8_ENST00000485728.1_5'UTR	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	183					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GTGCTGCCGCGTCTTGGAGCC	0.642000													3	19					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151857535	151857535	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:151857535G>A	ENST00000367290.5	+	2	229	c.140G>A	c.(139-141)aGt>aAt	p.S47N	CCDC170_ENST00000239374.7_Missense_Mutation_p.S47N|CCDC170_ENST00000544131.1_3'UTR			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	47																	AATGCTCGAAGTGAACTTGCA	0.443000													9	32					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130427537	130427537	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:130427537A>T	ENST00000373302.3	+	8	729	c.590A>T	c.(589-591)gAc>gTc	p.D197V	STXBP1_ENST00000373299.1_Missense_Mutation_p.D197V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	197					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GAATACAAGGACAATGCCCTG	0.562000													55	119					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38990452	38990452	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:38990452G>A	ENST00000355481.4	+	44	7336	c.7205G>A	c.(7204-7206)cGg>cAg	p.R2402Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R2402Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R2402Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2402	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGGACCGGCGGCGCGAGCAG	0.706000													11	13					0	0	1	0	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16258140	16258140	+	RNA	SNP	A	A	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:16258140A>C	ENST00000570786.1	+	0	495				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						ATTTCCGCGGAACTTACAGGT	0.607000													4	12					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33315172	33315172	+	Silent	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:33315172T>A	ENST00000374796.2	-	15	8609	c.6039A>T	c.(6037-6039)ccA>ccT	p.P2013P	NCOA6_ENST00000359003.2_Silent_p.P2013P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2013	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTCTTCGGCCTGGGATTTTGG	0.498000													24	62					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077658	32077658	+	RNA	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:32077658G>A	ENST00000354689.6	+	0	273				RP11-1166P10.6_ENST00000566806.1_RNA																							CCGAGGACACGGCTGTGTATT	0.547000													75	309					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101477583	101477583	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:101477583G>A	ENST00000392979.3	+	15	1779	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	ANO4_ENST00000392977.3_Missense_Mutation_p.G508E|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	508						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGCATCTGGAATATTTTTT	0.308000										HNSCC(74;0.22)			18	19					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316275	12316275	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr11:12316275C>T	ENST00000256186.2	+	3	1588	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	433					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAAGGTGCTGCCTGAAGATAG	0.557000													70	79					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702254	23702254	+	Silent	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:23702254C>T	ENST00000256797.4	-	22	2991	c.2823G>A	c.(2821-2823)acG>acA	p.T941T	ERN2_ENST00000457008.2_Silent_p.T841T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	893					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTCGGTGCGTGTGGAGGA	0.642000													17	43					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100370987	100370987	+	RNA	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:100370987G>A	ENST00000542585.1	+	0	5653				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TAAACAACCCGAGGGACTGCC	0.577000													12	43					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9412933	9412933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:9412933G>T	ENST00000345094.3	+	4	854	c.520G>T	c.(520-522)Gag>Tag	p.E174*	THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.E174*|THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.E174*|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	174	THUMP.						methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGTTAAAAAAGAGTTCACTAG	0.308000													12	15					1.08611e-07	1.18748e-07	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196825057	196825057	+	Silent	SNP	A	A	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:196825057A>G	ENST00000312428.6	-	18	2918	c.2818T>C	c.(2818-2820)Ttg>Ctg	p.L940L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	940	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTCATCCAACAACATCTGA	0.338000													29	55					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145742569	145742569	+	Silent	SNP	T	T	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr8:145742569T>A	ENST00000428558.2	-	4	260	c.219A>T	c.(217-219)ccA>ccT	p.P73P	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	73					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGGGGCTCTGGCGCCTGCA	0.711000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				8	11					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34485161	34485161	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr9:34485161G>A	ENST00000242317.4	+	3	274	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	DNAI1_ENST00000488369.1_3'UTR|DNAI1_ENST00000545019.1_Missense_Mutation_p.V35M	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	35					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGGGACTGAAGTGGGAGAAGG	0.498000									Kartagener syndrome				29	43					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131012647	131012647	+	Translation_Start_Site	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr7:131012647G>A	ENST00000352689.6	+	0	29				MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs						signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CGGCCGCTACGGTGCTGACAA	0.721000													22	32					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51913367	51913367	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:51913367G>A	ENST00000371117.3	-	23	2605	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	PKHD1_ENST00000340994.4_Missense_Mutation_p.T777M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	777					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.T777M(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCTGTGTCGTCACCAGGAC	0.527000													21	49					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014034	53014034	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr19:53014034G>C	ENST00000421239.2	+	6	644	c.400G>C	c.(400-402)Gag>Cag	p.E134Q		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAAAATCAAAGAGTTGATGGG	0.378000													53	125					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189429	92189429	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:92189429A>T	ENST00000256343.3	-	4	429	c.273T>A	c.(271-273)agT>agA	p.S91R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	91					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CATTATATGTACTATTCATGA	0.348000													10	60					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347156	71347156	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr4:71347156C>A	ENST00000413702.1	+	4	983	c.695C>A	c.(694-696)cCa>cAa	p.P232Q	MUC7_ENST00000304887.5_Missense_Mutation_p.P232Q|MUC7_ENST00000456088.1_Missense_Mutation_p.P232Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	232	Thr-rich.					extracellular region	protein binding	p.P232Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCAGCTCCACCAGAGACCACA	0.587000													7	183					0.00621372	0.00636906	1	1	0
CAND1	55832	broad.mit.edu	37	12	67691443	67691443	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:67691443G>A	ENST00000545606.1	+	5	1185	c.748_splice	c.e5+1	p.G250_splice		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	250					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCATAGAATAGGTAAGAAATC	0.299000													19	26					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390760	124390760	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:124390760C>A	ENST00000368909.3	+	46	6028	c.5922C>A	c.(5920-5922)aaC>aaA	p.N1974K	DMBT1_ENST00000330163.4_Missense_Mutation_p.N1346K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N1964K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N1964K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1346K|DMBT1_ENST00000338354.3_Missense_Mutation_p.N1974K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N694K	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1974	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTCCCACAACTGTAATCATC	0.537000													52	82					3.07002e-29	3.67506e-29	1	1	0
CPNE8	144402	broad.mit.edu	37	12	39047819	39047819	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr12:39047819C>T	ENST00000331366.5	-	20	1656	c.1560G>A	c.(1558-1560)atG>atA	p.M520I	CPNE8_ENST00000538596.2_Missense_Mutation_p.M189I|CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Missense_Mutation_p.M508I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	520										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCAATCTAGCCATGCTCAGTA	0.453000													3	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587962	179587962	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr2:179587962G>T	ENST00000589042.1	-	75	21996	c.21772C>A	c.(21772-21774)Cca>Aca	p.P7258T	TTN_ENST00000342992.6_Missense_Mutation_p.P6014T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6941T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6941	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAAATTGGAAGTGTTCCA	0.373000													14	26					6.72482e-11	7.55391e-11	1	1	0
PPP2R5E	5529	broad.mit.edu	37	14	63851189	63851189	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr14:63851189T>C	ENST00000337537.3	-	12	1777	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.Y316C|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.Y392C	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	392					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGAAATCCTATAAAGGCTGGA	0.388000													25	31					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30492809	30492809	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:30492809C>G	ENST00000356798.6	+	7	806	c.626C>G	c.(625-627)tCa>tGa	p.S209*	ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S126*|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	209	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTTGATTTCTCAGATTATGTT	0.393000													10	23					0	0	1	0	0
WNT4	54361	broad.mit.edu	37	1	22447766	22447767	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:22447766_22447767insTC	ENST00000290167.6	-	4	568_569	c.525_526insGA	c.(523-528)aggcaafs	p.Q176fs	WNT4_ENST00000542383.1_Frame_Shift_Ins_p.Q121fs	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	176					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCCCCCTTGCTTCTCTCCCGCA	0.609													7	47	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr1:154842331_154842333delTGC	ENST00000271915.3	-	1	423_425	c.108_110delGCA	c.(106-111)caa>ca	p.QQ40del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	40	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													4	8	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106825978	106825979	+	RNA	INS	-	-	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr3:106825978_106825979insA	ENST00000484698.1	-	0	295																											TGGCCATGCACGGACCCCACTC	0.653													2	4	---	---	---	---					
TMEM161B	153396	broad.mit.edu	37	5	87502911	87502911	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr5:87502911delA	ENST00000296595.6	-	6	657	c.533delT	c.(532-534)tcfs	p.F179fs	TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000514135.1_Frame_Shift_Del_p.F179fs|TMEM161B_ENST00000509387.1_Frame_Shift_Del_p.F52fs|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000512429.1_Frame_Shift_Del_p.F168fs	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	179						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TTTGACAAAGAAAAAAAATCC	0.308													16	9	---	---	---	---					
HLA-B	3106	broad.mit.edu	37	6	31323359	31323360	+	Frame_Shift_Ins	INS	-	-	T	rs67709394		TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:31323359_31323360insT	ENST00000412585.2	-	4	657_658	c.629_630insA	c.(628-630)aacfs	p.N210fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCACGTGTGTCTTTGGGGGGTC	0.584									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				52	146	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr6:114292110_114292112delCTG	ENST00000398283.2	-	1	247_249	c.243_245delCAG	c.(241-246)agg>ag	p.SR81del	HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685													3	5	---	---	---	---					
CTNNA3	29119	broad.mit.edu	37	10	67680137	67680138	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:67680137_67680138insT	ENST00000433211.1	-	18	2812_2813	c.2638_2639insA	c.(2638-2640)ccafs	p.P880fs	CTNNA3_ENST00000373735.1_Frame_Shift_Ins_p.P219fs|CTNNA3_ENST00000373744.4_Frame_Shift_Ins_p.P880fs	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	880					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAATGGATGGATTTTTTTCTTT	0.411													7	83	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102766754	102766754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr10:102766754delC	ENST00000370220.1	+	4	4902	c.1839delC	c.(1837-1839)tafs	p.Y613fs	LZTS2_ENST00000370223.3_Frame_Shift_Del_p.Y613fs			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	613	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TGATCCGCTACCAGAAGCAGC	0.672													2	4	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3843540	3843541	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:3843540_3843541insT	ENST00000262367.5	-	4	1871_1872	c.1062_1063insA	c.(1060-1065)atagcafs	p.A355fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.A355fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	355	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q355*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTGCTGCTGTATCAGTTTGC	0.490			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						37	38	---	---	---	---					
RP5-991G20.1	0	broad.mit.edu	37	16	72763863	72763864	+	RNA	INS	-	-	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr16:72763863_72763864insA	ENST00000563328.2	+	0	164																											TTCAGCGGTCCAAAACAAAAAA	0.441													5	6	---	---	---	---					
MIS12	79003	broad.mit.edu	37	17	5392615	5392616	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr17:5392615_5392616insA	ENST00000381165.3	+	3	986_987	c.433_434insA	c.(433-435)aaafs	p.K145fs	MIS12_ENST00000573759.1_Frame_Shift_Ins_p.K145fs	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	145					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ATTAGAAGAGCAAAAAATTGTT	0.386													28	97	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31021616	31021616	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6D8-01A-31D-A31L-08	TCGA-BA-A6D8-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3165d4c2-2188-407a-8e24-646ee5206c1c	94232521-1dd0-4046-bf15-d963cf4207e6	g.chr20:31021616delA	ENST00000375687.4	+	12	2039	c.1615delA	c.(1615-1617)agfs	p.K539fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.K534fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	539					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCCCGAAAAGAAGCCCCGGCT	0.517			"""F, N, Mis"""		"""MDS, CMML"""								88	177	---	---	---	---