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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													6	105					0	0	0.021553	0	0
FUK	197258	broad.mit.edu	37	16	70504952	70504952	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr16:70504952G>A	ENST00000288078.6	+	12	1379	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I	FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Missense_Mutation_p.V415I	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	383						cytoplasm	ATP binding|fucokinase activity	p.V383I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TCCTGGGAGCGTCCTGCAGCA	0.682000													4	6					0	0	0.009096	0	0
UNC5B	219699	broad.mit.edu	37	10	73047492	73047492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:73047492C>T	ENST00000335350.6	+	6	1287	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	UNC5B_ENST00000373192.4_Nonsense_Mutation_p.Q291*	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	291	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.Q291*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAGGCATTCCAGAAGACCGC	0.652000													19	25					0	0	0.055883	0	0
LPP	4026	broad.mit.edu	37	3	188477903	188477903	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr3:188477903C>T	ENST00000312675.4	+	8	1489	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.R415C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	415	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.R415C(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTTTCCAGGCCGCTGTGCTCG	0.483000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								9	29					0	0	0.080935	0	0
SIAH3	283514	broad.mit.edu	37	13	46357677	46357677	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr13:46357677C>T	ENST00000400405.2	-	2	757	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	217					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	p.T217T(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CAGACCGGGGCGTGGCCTCCC	0.617000													22	34					0	0	0.055883	0	0
MND1	84057	broad.mit.edu	37	4	154318419	154318419	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr4:154318419A>T	ENST00000240488.3	+	6	489	c.400A>T	c.(400-402)Agg>Tgg	p.R134W	MND1_ENST00000504860.1_Missense_Mutation_p.R119W	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	134					DNA recombination|meiosis	nucleus	DNA binding	p.R134W(1)		large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TCGAGACCAAAGGGAACAGCT	0.378000													7	22					0	0	0.058154	0	0
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D|RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1325	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1323D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCCTGGGGCTGGCCTTTTT	0.522000													40	77					1.57019e-19	1.85568e-19	0.098360	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	20					0.000442599	0.000479483	0.058154	1	0
CLN8	2055	broad.mit.edu	37	8	1719548	1719548	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:1719548G>A	ENST00000331222.4	+	2	575	c.328G>A	c.(328-330)Gca>Aca	p.A110T		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	110	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		p.A110T(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CATCACGACAGCAACGGGATT	0.542000													3	90					0	0	0.115264	0	0
NMUR1	10316	broad.mit.edu	37	2	232390132	232390132	+	Silent	SNP	G	G	A	rs138820733		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:232390132G>A	ENST00000305141.4	-	3	1036	c.903C>T	c.(901-903)gtC>gtT	p.V301V		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	301					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.V301V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCACGACCAGGACAACTGCAG	0.642000													12	19					0	0	0.132662	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													5	43					0	0	0.014758	0	0
SYBU	55638	broad.mit.edu	37	8	110588223	110588223	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:110588223G>A	ENST00000399066.3	-	6	1622	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	SYBU_ENST00000528331.1_Missense_Mutation_p.L183F|SYBU_ENST00000533895.1_Missense_Mutation_p.L301F|SYBU_ENST00000408889.3_Missense_Mutation_p.L183F|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533171.1_Missense_Mutation_p.L302F|SYBU_ENST00000446070.2_Missense_Mutation_p.L301F|SYBU_ENST00000419099.1_Missense_Mutation_p.L301F|SYBU_ENST00000529175.1_Missense_Mutation_p.L96F|SYBU_ENST00000532779.1_Missense_Mutation_p.L234F|SYBU_ENST00000276646.9_Missense_Mutation_p.L302F|SYBU_ENST00000408908.2_Missense_Mutation_p.L302F|SYBU_ENST00000422135.1_Missense_Mutation_p.L302F|SYBU_ENST00000529690.1_Missense_Mutation_p.L172F|SYBU_ENST00000533065.1_Missense_Mutation_p.L183F|SYBU_ENST00000433638.1_Missense_Mutation_p.L302F|SYBU_ENST00000424158.2_Missense_Mutation_p.L307F|SYBU_ENST00000528647.1_Missense_Mutation_p.L301F|SYBU_ENST00000440310.1_Missense_Mutation_p.L302F	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	302	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.L299F(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TGGGACTTAAGCTCCACGATT	0.443000													12	41					0	0	0.132662	0	0
GABRG3	2567	broad.mit.edu	37	15	27772631	27772631	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr15:27772631C>T	ENST00000333743.6	+	8	1172	c.918C>T	c.(916-918)tcC>tcT	p.S306S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	306					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S306S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCAGGAAGTCCTTGCCACGCG	0.567000													20	36					0	0	0.076483	0	0
CSAD	51380	broad.mit.edu	37	12	53564229	53564229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:53564229G>A	ENST00000267085.4	-	9	939	c.706C>T	c.(706-708)Cga>Tga	p.R236*	CSAD_ENST00000379846.1_Nonsense_Mutation_p.R62*|CSAD_ENST00000453446.2_Nonsense_Mutation_p.R209*|CSAD_ENST00000444623.1_Nonsense_Mutation_p.R209*|CSAD_ENST00000379843.3_Nonsense_Mutation_p.R62*	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	209					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	p.R209*(1)|p.R236*(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTGACCACTCGGACACTGTCG	0.567000													20	37					0	0	0.055883	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846417	72846417	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr17:72846417G>A	ENST00000293190.5	-	6	1565	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	GRIN2C_ENST00000347612.4_Silent_p.Y473Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	473					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	p.Y473Y(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGTACAGGTCGTAGGAGAATT	0.612000													49	96					0	0	0.139131	0	0
KIDINS220	57498	broad.mit.edu	37	2	8926114	8926114	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:8926114G>A	ENST00000256707.3	-	17	2167	c.1986C>T	c.(1984-1986)atC>atT	p.I662I	KIDINS220_ENST00000427284.1_Silent_p.I662I|KIDINS220_ENST00000473731.1_Silent_p.I662I|KIDINS220_ENST00000319688.5_Silent_p.I663I|KIDINS220_ENST00000418530.1_Silent_p.I620I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	662	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.I662I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAAAAGGAAGATGACAAAAG	0.328000													30	49					0	0	0.069456	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	100					0	0	0.021553	0	0
ADH4	127	broad.mit.edu	37	4	100062801	100062801	+	Silent	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr4:100062801G>T	ENST00000508393.1	-	4	375	c.210C>A	c.(208-210)gcC>gcA	p.A70A	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.A70A|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Silent_p.A70A|ADH4_ENST00000265512.7_Silent_p.A51A			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	51					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.A51E(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CGATAACAGTGGCATCAGTAT	0.438000													7	61					1.66031e-10	1.89333e-10	0.091800	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	35					0	0	0.029380	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318889	21318889	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr17:21318889C>T	ENST00000583088.1	+	3	1130	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R79C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R79C(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGTGGACATCCGCTGGCGGTA	0.567000										Prostate(3;0.18)			4	56					0	0	0.009096	0	0
KMT2D	8085	broad.mit.edu	37	12	49418397	49418397	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:49418397G>A	ENST00000301067.7	-	50	16015	c.16016C>T	c.(16015-16017)gCc>gTc	p.A5339V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.A5069V(1)|p.A5339V(1)									CTCTGATCGGGCACAGCCAGT	0.567000													3	38					0	0	0.115264	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926414	21926414	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:21926414G>A	ENST00000240662.2	-	2	482	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	46						voltage-gated potassium channel complex		p.A46V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTCTTATGCGCCAGGTTGCA	0.612000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	31					0	0	0.049695	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134183555	134183555	+	Missense_Mutation	SNP	G	G	A	rs148777558		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:134183555G>A	ENST00000372264.3	+	2	1001	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	233						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	p.G233S(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGTGATGATCGGCCGCCACCA	0.657000													9	20					0	0	0.069234	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002476	41002476	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr6:41002476C>A	ENST00000244565.3	-	2	426	c.338G>T	c.(337-339)gGt>gTt	p.G113V	UNC5CL_ENST00000373164.1_Missense_Mutation_p.G113V	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	113	ZU5.				signal transduction	cytoplasm|integral to membrane		p.G113V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATCAGGCAACCGCCGCGGTG	0.552000													3	92					0.115264	0.118923	0.115264	1	0
NTM	50863	broad.mit.edu	37	11	132016192	132016192	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr11:132016192C>T	ENST00000374786.1	+	2	663	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	NTM_ENST00000374791.3_Missense_Mutation_p.R62W|NTM_ENST00000374784.1_Missense_Mutation_p.R62W|NTM_ENST00000427481.2_Missense_Mutation_p.R53W|NTM_ENST00000539799.1_Missense_Mutation_p.R62W|NTM_ENST00000425719.2_Missense_Mutation_p.R62W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	62	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.R62W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TATTGACAACCGGGTCACCCG	0.577000													11	30					0	0	0.080935	0	0
ASTN1	460	broad.mit.edu	37	1	176998839	176998839	+	Missense_Mutation	SNP	T	T	C	rs140453977		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:176998839T>C	ENST00000367654.2	-	5	1064	c.1051A>G	c.(1051-1053)Aca>Gca	p.T351A	ASTN1_ENST00000367657.3_Missense_Mutation_p.T351A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.T351A|ASTN1_ENST00000424564.2_Missense_Mutation_p.T351A			O14525	ASTN1_HUMAN	astrotactin 1	351					cell migration|neuron cell-cell adhesion	integral to membrane		p.T351A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGCCTCTGTGCCAGAATCC	0.502000													13	18					0	0	0.105934	0	0
DCT	1638	broad.mit.edu	37	13	95131260	95131260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr13:95131260C>A	ENST00000377028.5	-	1	663	c.250G>T	c.(250-252)Gag>Tag	p.E84*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E84*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	84					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.E84*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGCCACAGCTCACGGTCATCC	0.612000													14	41					3.45872e-05	3.81045e-05	0.146539	1	0
NKX2-5	1482	broad.mit.edu	37	5	172661900	172661900	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:172661900C>A	ENST00000329198.4	-	1	460	c.187G>T	c.(187-189)Gcg>Tcg	p.A63S	NKX2-5_ENST00000424406.2_Missense_Mutation_p.A63S|NKX2-5_ENST00000521848.1_Missense_Mutation_p.A63S	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	63	Ala/Pro-rich.		A -> V (in ASD-AVCD).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	p.A63S(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGCCCGGCGCAGCCGCCTCG	0.741000													7	1					7.48243e-07	8.38548e-07	0.058154	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535185	90535185	+	RNA	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:90535185T>C	ENST00000602681.1	+	0	1089																											GGCCACACCTTGAAAAAGGTG	0.622000													3	37					0	0	0.115264	0	0
DISC1	27185	broad.mit.edu	37	1	231885726	231885726	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:231885726A>G	ENST00000439617.2	+	4	1225	c.1172A>G	c.(1171-1173)cAc>cGc	p.H391R	DISC1_ENST00000539444.1_Missense_Mutation_p.H391R|DISC1_ENST00000366636.4_Missense_Mutation_p.H391R|DISC1_ENST00000537876.1_Missense_Mutation_p.H391R|DISC1_ENST00000602873.1_Missense_Mutation_p.H41R|DISC1_ENST00000366633.3_Missense_Mutation_p.H391R|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.H391R|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.H391R	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	391	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	p.H391R(2)|p.H423R(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATCAGCCTGCACTTTCAACTT	0.493000													32	61					0	0	0.054565	0	0
ADH4	127	broad.mit.edu	37	4	100062802	100062802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr4:100062802G>T	ENST00000508393.1	-	4	374	c.209C>A	c.(208-210)gCc>gAc	p.A70D	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.A70D|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Missense_Mutation_p.A70D|ADH4_ENST00000265512.7_Missense_Mutation_p.A51D			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	51					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.A51E(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GATAACAGTGGCATCAGTATG	0.438000													7	61					1.66031e-10	1.89333e-10	0.091800	1	0
HGSNAT	138050	broad.mit.edu	37	8	43025814	43025814	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:43025814C>T	ENST00000458501.2	+	7	804	c.804C>T	c.(802-804)ctC>ctT	p.L268L	HGSNAT_ENST00000379644.4_Silent_p.L240L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	268					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	p.L268L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CGCCCCGCCTCCGCAGCGTGG	0.562000													6	8					0	0	0.038147	0	0
C20orf194	25943	broad.mit.edu	37	20	3278717	3278717	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr20:3278717G>C	ENST00000252032.9	-	22	1955	c.1888C>G	c.(1888-1890)Ctt>Gtt	p.L630V	C20orf194_ENST00000498079.1_5'UTR|C20orf194_ENST00000453730.2_Missense_Mutation_p.L368V	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	630								p.L630V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTGGGGAAAAGGGCAATCATC	0.388000													41	73					0	0	0.124865	0	0
SAFB	6294	broad.mit.edu	37	19	5661591	5661591	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr19:5661591G>A	ENST00000292123.5	+	15	2032	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	SAFB_ENST00000592224.1_Missense_Mutation_p.R641H|SAFB_ENST00000588852.1_Missense_Mutation_p.R642H|SAFB_ENST00000433404.1_Missense_Mutation_p.R472H|SAFB_ENST00000454510.1_Missense_Mutation_p.R573H|SAFB_ENST00000538656.1_Missense_Mutation_p.R484H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	642	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	p.R642H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGAGGAGCGTGAGCGGCTG	0.662000													13	29					0	0	0.105934	0	0
CDH9	1007	broad.mit.edu	37	5	26903857	26903857	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:26903857G>A	ENST00000231021.4	-	6	1060	c.888C>T	c.(886-888)gaC>gaT	p.D296D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	296	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D296D(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTCCCCCACGTCAGGGTCAT	0.408000													64	164					0	0	0.139131	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266308	43266308	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr6:43266308G>A	ENST00000372585.5	+	1	307	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R71Q|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R71Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	71						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.R71Q(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CATCTTCCCCGGGAGCCTGAT	0.662000													8	22					0	0	0.038147	0	0
RYR2	6262	broad.mit.edu	37	1	237829818	237829818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:237829818G>T	ENST00000366574.2	+	57	8760	c.8443G>T	c.(8443-8445)Gtg>Ttg	p.V2815L	RYR2_ENST00000542537.1_Missense_Mutation_p.V2799L|RYR2_ENST00000360064.6_Missense_Mutation_p.V2813L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2815	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V2813L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGGTTTCTGTGGACGCTGC	0.373000													11	15					0.00829132	0.00883501	0.069234	1	0
REV1	51455	broad.mit.edu	37	2	100079005	100079005	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:100079005G>T	ENST00000258428.3	-	3	362	c.134C>A	c.(133-135)tCa>tAa	p.S45*	REV1_ENST00000393445.3_Nonsense_Mutation_p.S45*	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	45	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.S45*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATTGTAGATGAAGTCCCATC	0.378000								Direct reversal of damage					44	84					1.62957e-23	1.96152e-23	0.104719	1	0
IGSF1	3547	broad.mit.edu	37	X	130416522	130416522	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chrX:130416522T>A	ENST00000370904.1	-	13	2025	c.1115A>T	c.(1114-1116)aAt>aTt	p.N372I	IGSF1_ENST00000370903.3_Missense_Mutation_p.N381I|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372I|IGSF1_ENST00000361420.3_Missense_Mutation_p.N381I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	381	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.N381I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTAGGTTACATTGTTGAGGAA	0.443000													45	14					0	0	0.139131	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822747	56822747	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:56822747G>A	ENST00000229201.4	-	11	1375	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Silent_p.F408F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	408					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.F408F(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAATGAAGTGGAAGGTACGGA	0.552000													17	42					0	0	0.049695	0	0
TENM1	10178	broad.mit.edu	37	X	123780627	123780627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chrX:123780627C>T	ENST00000422452.2	-	9	1676	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	TENM1_ENST00000371130.3_Missense_Mutation_p.G538E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.G540E(1)									CTCTCCATTTCCATTGCAATT	0.373000													16	11					0	0	0.146539	0	0
USP6NL	9712	broad.mit.edu	37	10	11504482	11504482	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:11504482C>T	ENST00000379237.1	-	15	2839	c.2445G>A	c.(2443-2445)agG>agA	p.R815R	USP6NL_ENST00000277575.5_Silent_p.R832R	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	815						intracellular	Rab GTPase activator activity	p.R832R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTCCCGATTCCTGTAGTGGT	0.502000													22	38					0	0	0.069288	0	0
CCL15	6359	broad.mit.edu	37	17	34325389	34325389	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr17:34325389A>G	ENST00000354059.4	-	3	727	c.175T>C	c.(175-177)Tca>Cca	p.S59P	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.S59P|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	59					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.S59P(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCTTTGTGAGATGTAGGAG	0.498000													9	19					0	0	0.069234	0	0
WAC	51322	broad.mit.edu	37	10	28900789	28900789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:28900789C>T	ENST00000375664.3	+	10	1849	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	WAC_ENST00000375646.1_Nonsense_Mutation_p.Q307*|WAC_ENST00000354911.4_Nonsense_Mutation_p.Q459*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q356*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	459					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.Q459*(1)|p.Q459E(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AAGCACACCTCAAACTAACAC	0.433000													61	85					0	0	0.139131	0	0
LAMA1	284217	broad.mit.edu	37	18	6958505	6958505	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr18:6958505G>A	ENST00000389658.3	-	55	8028	c.7935C>T	c.(7933-7935)ggC>ggT	p.G2645G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2645	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2645G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGATACAGCCATGGAACG	0.453000													5	80					0	0	0.014758	0	0
CLSPN	63967	broad.mit.edu	37	1	36212562	36212562	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:36212562A>G	ENST00000251195.5	-	15	2755	c.2659T>C	c.(2659-2661)Tac>Cac	p.Y887H	CLSPN_ENST00000373220.3_Missense_Mutation_p.Y823H|CLSPN_ENST00000318121.3_Missense_Mutation_p.Y887H|CLSPN_ENST00000520551.1_Missense_Mutation_p.Y834H			Q9HAW4	CLSPN_HUMAN	claspin	887					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	p.Y887H(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGCTTGGTACTGATTCCTG	0.458000													39	90					0	0	0.117977	0	0
LAD1	3898	broad.mit.edu	37	1	201355988	201355988	+	Silent	SNP	T	T	C	rs138697867		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:201355988T>C	ENST00000391967.2	-	3	802	c.501A>G	c.(499-501)gaA>gaG	p.E167E	LAD1_ENST00000367313.3_Silent_p.E181E	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	167						basement membrane	structural molecule activity	p.E167E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCTTCCTCTCTTCTGGCTCCC	0.582000													3	116					0	0	0.115264	0	0
XKR7	343702	broad.mit.edu	37	20	30584388	30584388	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr20:30584388G>A	ENST00000217299.3	+	3	1042	c.868G>A	c.(868-870)Gac>Aac	p.D290N		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	290						integral to membrane		p.D290N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCGCGGGACGACAAGCGGCC	0.697000													12	17					0	0	0.080935	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470																		p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592000													3	1					0	0	0.014758	0	0
MAP3K7	6885	broad.mit.edu	37	6	91260267	91260267	+	Splice_Site	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr6:91260267T>C	ENST00000369329.3	-	9	1030	c.867_splice	c.e9-1	p.Y290_splice	MAP3K7_ENST00000369332.3_Splice_Site_p.Y290_splice|MAP3K7_ENST00000369325.3_Splice_Site_p.Y290_splice|MAP3K7_ENST00000369327.3_Splice_Site_p.Y290_splice|MAP3K7_ENST00000369320.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	290	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.Y290C(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCCTGGAAAGTACTATATATA	0.328000													18	46					0	0	0.043863	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													3	10					0	0	0.115264	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114503	66114503	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr11:66114503C>T	ENST00000311181.4	-	1	660	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	172					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	p.E172*(1)|p.E172K(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TCCCCCGGCTCCCGGGGGTCG	0.682000													10	16					0	0	0.093190	0	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													3	90					0	0	0.014758	0	0
RFESD	317671	broad.mit.edu	37	5	94991871	94991871	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:94991871G>A	ENST00000458310.1	+	6	1822	c.491G>A	c.(490-492)tGc>tAc	p.C164Y	SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.C164Y|RFESD_ENST00000311364.4_Missense_Mutation_p.C111Y|RFESD_ENST00000513950.2_3'UTR	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	111							2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity	p.C111Y(1)|p.C164Y(1)		autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		CCCAAGTGGTGCTCCAAAGGA	0.383000													38	15					0	0	0.104719	0	0
FUK	197258	broad.mit.edu	37	16	70504952	70504952	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr16:70504952G>A	ENST00000288078.6	+	12	1379	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I	FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Missense_Mutation_p.V415I	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	383						cytoplasm	ATP binding|fucokinase activity	p.V383I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TCCTGGGAGCGTCCTGCAGCA	0.682000													4	6					0	0	0.009096	0	0
UNC5B	219699	broad.mit.edu	37	10	73047492	73047492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr10:73047492C>T	ENST00000335350.6	+	6	1287	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	UNC5B_ENST00000373192.4_Nonsense_Mutation_p.Q291*	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	291	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.Q291*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAGGCATTCCAGAAGACCGC	0.652000													19	25					0	0	0.055883	0	0
LPP	4026	broad.mit.edu	37	3	188477903	188477903	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr3:188477903C>T	ENST00000312675.4	+	8	1489	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.R415C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	415	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.R415C(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTTTCCAGGCCGCTGTGCTCG	0.483000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								9	29					0	0	0.080935	0	0
SIAH3	283514	broad.mit.edu	37	13	46357677	46357677	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr13:46357677C>T	ENST00000400405.2	-	2	757	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	217					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	p.T217T(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CAGACCGGGGCGTGGCCTCCC	0.617000													22	34					0	0	0.055883	0	0
MND1	84057	broad.mit.edu	37	4	154318419	154318419	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr4:154318419A>T	ENST00000240488.3	+	6	489	c.400A>T	c.(400-402)Agg>Tgg	p.R134W	MND1_ENST00000504860.1_Missense_Mutation_p.R119W	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	134					DNA recombination|meiosis	nucleus	DNA binding	p.R134W(1)		large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TCGAGACCAAAGGGAACAGCT	0.378000													7	22					0	0	0.058154	0	0
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1325	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1323D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCCTGGGGCTGGCCTTTTT	0.522000													40	77					1.57019e-19	1.90235e-19	0.098360	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	20					0.000442599	0.000480754	0.058154	1	0
CLN8	2055	broad.mit.edu	37	8	1719548	1719548	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr8:1719548G>A	ENST00000331222.4	+	2	575	c.328G>A	c.(328-330)Gca>Aca	p.A110T		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	110	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		p.A110T(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CATCACGACAGCAACGGGATT	0.542000													3	90					0	0	0.115264	0	0
NMUR1	10316	broad.mit.edu	37	2	232390132	232390132	+	Silent	SNP	G	G	A	rs138820733		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr2:232390132G>A	ENST00000305141.4	-	3	1036	c.903C>T	c.(901-903)gtC>gtT	p.V301V		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	301					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.V301V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCACGACCAGGACAACTGCAG	0.642000													12	19					0	0	0.132662	0	0
SYBU	55638	broad.mit.edu	37	8	110588223	110588223	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr8:110588223G>A	ENST00000399066.3	-	6	1622	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	SYBU_ENST00000529690.1_Missense_Mutation_p.L172F|SYBU_ENST00000433638.1_Missense_Mutation_p.L302F|SYBU_ENST00000424158.2_Missense_Mutation_p.L307F|SYBU_ENST00000528647.1_Missense_Mutation_p.L301F|SYBU_ENST00000533065.1_Missense_Mutation_p.L183F|SYBU_ENST00000533895.1_Missense_Mutation_p.L301F|SYBU_ENST00000440310.1_Missense_Mutation_p.L302F|SYBU_ENST00000528331.1_Missense_Mutation_p.L183F|SYBU_ENST00000533171.1_Missense_Mutation_p.L302F|SYBU_ENST00000419099.1_Missense_Mutation_p.L301F|SYBU_ENST00000446070.2_Missense_Mutation_p.L301F|SYBU_ENST00000408889.3_Missense_Mutation_p.L183F|SYBU_ENST00000408908.2_Missense_Mutation_p.L302F|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000532779.1_Missense_Mutation_p.L234F|SYBU_ENST00000276646.9_Missense_Mutation_p.L302F|SYBU_ENST00000529175.1_Missense_Mutation_p.L96F|SYBU_ENST00000422135.1_Missense_Mutation_p.L302F	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	302	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.L299F(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TGGGACTTAAGCTCCACGATT	0.443000													12	41					0	0	0.132662	0	0
GABRG3	2567	broad.mit.edu	37	15	27772631	27772631	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr15:27772631C>T	ENST00000333743.6	+	8	1172	c.918C>T	c.(916-918)tcC>tcT	p.S306S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	306					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S306S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCAGGAAGTCCTTGCCACGCG	0.567000													20	36					0	0	0.076483	0	0
CSAD	51380	broad.mit.edu	37	12	53564229	53564229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr12:53564229G>A	ENST00000267085.4	-	9	939	c.706C>T	c.(706-708)Cga>Tga	p.R236*	CSAD_ENST00000379846.1_Nonsense_Mutation_p.R62*|CSAD_ENST00000379843.3_Nonsense_Mutation_p.R62*|CSAD_ENST00000453446.2_Nonsense_Mutation_p.R209*|CSAD_ENST00000444623.1_Nonsense_Mutation_p.R209*	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	209					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	p.R209*(1)|p.R236*(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTGACCACTCGGACACTGTCG	0.567000													20	37					0	0	0.055883	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846417	72846417	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr17:72846417G>A	ENST00000293190.5	-	6	1565	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	GRIN2C_ENST00000347612.4_Silent_p.Y473Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	473					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	p.Y473Y(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGTACAGGTCGTAGGAGAATT	0.612000													49	96					0	0	0.139131	0	0
KIDINS220	57498	broad.mit.edu	37	2	8926114	8926114	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr2:8926114G>A	ENST00000256707.3	-	17	2167	c.1986C>T	c.(1984-1986)atC>atT	p.I662I	KIDINS220_ENST00000319688.5_Silent_p.I663I|KIDINS220_ENST00000473731.1_Silent_p.I662I|KIDINS220_ENST00000418530.1_Silent_p.I620I|KIDINS220_ENST00000427284.1_Silent_p.I662I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	662	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.I662I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAAAAGGAAGATGACAAAAG	0.328000													30	49					0	0	0.069456	0	0
ADH4	127	broad.mit.edu	37	4	100062801	100062801	+	Silent	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr4:100062801G>T	ENST00000508393.1	-	4	375	c.210C>A	c.(208-210)gcC>gcA	p.A70A	ADH4_ENST00000423445.1_Silent_p.A70A|ADH4_ENST00000504581.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Silent_p.A51A|ADH4_ENST00000505590.1_Silent_p.A70A			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	51					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.A51E(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CGATAACAGTGGCATCAGTAT	0.438000													7	61					1.66031e-10	1.93702e-10	0.091800	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318889	21318889	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr17:21318889C>T	ENST00000583088.1	+	3	1130	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R79C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R79C(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGTGGACATCCGCTGGCGGTA	0.567000										Prostate(3;0.18)			4	56					0	0	0.009096	0	0
KMT2D	8085	broad.mit.edu	37	12	49418397	49418397	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr12:49418397G>A	ENST00000301067.7	-	50	16015	c.16016C>T	c.(16015-16017)gCc>gTc	p.A5339V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.A5069V(1)|p.A5339V(1)									CTCTGATCGGGCACAGCCAGT	0.567000													3	38					0	0	0.115264	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926414	21926414	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr12:21926414G>A	ENST00000240662.2	-	2	482	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	46						voltage-gated potassium channel complex		p.A46V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTCTTATGCGCCAGGTTGCA	0.612000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	31					0	0	0.049695	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134183555	134183555	+	Missense_Mutation	SNP	G	G	A	rs148777558		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr9:134183555G>A	ENST00000372264.3	+	2	1001	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	233						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	p.G233S(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGTGATGATCGGCCGCCACCA	0.657000													9	20					0	0	0.069234	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002476	41002476	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr6:41002476C>A	ENST00000244565.3	-	2	426	c.338G>T	c.(337-339)gGt>gTt	p.G113V	UNC5CL_ENST00000373164.1_Missense_Mutation_p.G113V	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	113	ZU5.				signal transduction	cytoplasm|integral to membrane		p.G113V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATCAGGCAACCGCCGCGGTG	0.552000													3	92					0.115264	0.119043	0.115264	1	0
ASTN1	460	broad.mit.edu	37	1	176998839	176998839	+	Missense_Mutation	SNP	T	T	C	rs140453977		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr1:176998839T>C	ENST00000367654.2	-	5	1064	c.1051A>G	c.(1051-1053)Aca>Gca	p.T351A	ASTN1_ENST00000361833.2_Missense_Mutation_p.T351A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T351A|ASTN1_ENST00000367657.3_Missense_Mutation_p.T351A			O14525	ASTN1_HUMAN	astrotactin 1	351					cell migration|neuron cell-cell adhesion	integral to membrane		p.T351A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGCCTCTGTGCCAGAATCC	0.502000													13	18					0	0	0.105934	0	0
DCT	1638	broad.mit.edu	37	13	95131260	95131260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr13:95131260C>A	ENST00000377028.5	-	1	663	c.250G>T	c.(250-252)Gag>Tag	p.E84*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E84*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	84					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.E84*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGCCACAGCTCACGGTCATCC	0.612000													14	41					3.45872e-05	3.82279e-05	0.146539	1	0
NKX2-5	1482	broad.mit.edu	37	5	172661900	172661900	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr5:172661900C>A	ENST00000329198.4	-	1	460	c.187G>T	c.(187-189)Gcg>Tcg	p.A63S	NKX2-5_ENST00000424406.2_Missense_Mutation_p.A63S|NKX2-5_ENST00000521848.1_Missense_Mutation_p.A63S	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	63	Ala/Pro-rich.		A -> V (in ASD-AVCD).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	p.A63S(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGCCCGGCGCAGCCGCCTCG	0.741000													7	1					7.48243e-07	8.41773e-07	0.058154	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	26					0	0	0.115264	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535185	90535185	+	RNA	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr9:90535185T>C	ENST00000602681.1	+	0	1089																											GGCCACACCTTGAAAAAGGTG	0.622000													3	37					0	0	0.115264	0	0
DISC1	27185	broad.mit.edu	37	1	231885726	231885726	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr1:231885726A>G	ENST00000439617.2	+	4	1225	c.1172A>G	c.(1171-1173)cAc>cGc	p.H391R	TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.H391R|DISC1_ENST00000535983.1_Missense_Mutation_p.H391R|DISC1_ENST00000537876.1_Missense_Mutation_p.H391R|DISC1_ENST00000539444.1_Missense_Mutation_p.H391R|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Missense_Mutation_p.H41R|DISC1_ENST00000602281.1_Missense_Mutation_p.H391R|DISC1_ENST00000366633.3_Missense_Mutation_p.H391R	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	391	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	p.H391R(2)|p.H423R(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATCAGCCTGCACTTTCAACTT	0.493000													32	61					0	0	0.054565	0	0
ADH4	127	broad.mit.edu	37	4	100062802	100062802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr4:100062802G>T	ENST00000508393.1	-	4	374	c.209C>A	c.(208-210)gCc>gAc	p.A70D	ADH4_ENST00000423445.1_Missense_Mutation_p.A70D|ADH4_ENST00000504581.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.A51D|ADH4_ENST00000505590.1_Missense_Mutation_p.A70D			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	51					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.A51E(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GATAACAGTGGCATCAGTATG	0.438000													7	61					1.66031e-10	1.93702e-10	0.091800	1	0
HGSNAT	138050	broad.mit.edu	37	8	43025814	43025814	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr8:43025814C>T	ENST00000458501.2	+	7	804	c.804C>T	c.(802-804)ctC>ctT	p.L268L	HGSNAT_ENST00000379644.4_Silent_p.L240L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	268					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	p.L268L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CGCCCCGCCTCCGCAGCGTGG	0.562000													6	8					0	0	0.038147	0	0
C20orf194	25943	broad.mit.edu	37	20	3278717	3278717	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr20:3278717G>C	ENST00000252032.9	-	22	1955	c.1888C>G	c.(1888-1890)Ctt>Gtt	p.L630V	C20orf194_ENST00000453730.2_Missense_Mutation_p.L368V|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	630								p.L630V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTGGGGAAAAGGGCAATCATC	0.388000													41	73					0	0	0.124865	0	0
SAFB	6294	broad.mit.edu	37	19	5661591	5661591	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr19:5661591G>A	ENST00000292123.5	+	15	2032	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	SAFB_ENST00000588852.1_Missense_Mutation_p.R642H|SAFB_ENST00000454510.1_Missense_Mutation_p.R573H|SAFB_ENST00000433404.1_Missense_Mutation_p.R472H|SAFB_ENST00000538656.1_Missense_Mutation_p.R484H|SAFB_ENST00000592224.1_Missense_Mutation_p.R641H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	642	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	p.R642H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGAGGAGCGTGAGCGGCTG	0.662000													13	29					0	0	0.105934	0	0
CDH9	1007	broad.mit.edu	37	5	26903857	26903857	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr5:26903857G>A	ENST00000231021.4	-	6	1060	c.888C>T	c.(886-888)gaC>gaT	p.D296D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	296	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D296D(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTCCCCCACGTCAGGGTCAT	0.408000													64	164					0	0	0.139131	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266308	43266308	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr6:43266308G>A	ENST00000372585.5	+	1	307	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R71Q|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R71Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	71						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.R71Q(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CATCTTCCCCGGGAGCCTGAT	0.662000													8	22					0	0	0.038147	0	0
RYR2	6262	broad.mit.edu	37	1	237829818	237829818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr1:237829818G>T	ENST00000366574.2	+	57	8760	c.8443G>T	c.(8443-8445)Gtg>Ttg	p.V2815L	RYR2_ENST00000360064.6_Missense_Mutation_p.V2813L|RYR2_ENST00000542537.1_Missense_Mutation_p.V2799L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2815	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V2813L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGGTTTCTGTGGACGCTGC	0.373000													11	15					0.00829132	0.00885344	0.069234	1	0
REV1	51455	broad.mit.edu	37	2	100079005	100079005	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr2:100079005G>T	ENST00000258428.3	-	3	362	c.134C>A	c.(133-135)tCa>tAa	p.S45*	REV1_ENST00000393445.3_Nonsense_Mutation_p.S45*	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	45	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.S45*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATTGTAGATGAAGTCCCATC	0.378000								Direct reversal of damage					44	84					1.62957e-23	2.013e-23	0.104719	1	0
IGSF1	3547	broad.mit.edu	37	X	130416522	130416522	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chrX:130416522T>A	ENST00000370904.1	-	13	2025	c.1115A>T	c.(1114-1116)aAt>aTt	p.N372I	IGSF1_ENST00000361420.3_Missense_Mutation_p.N381I|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372I|IGSF1_ENST00000370903.3_Missense_Mutation_p.N381I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	381	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.N381I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTAGGTTACATTGTTGAGGAA	0.443000													45	14					0	0	0.139131	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822747	56822747	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr12:56822747G>A	ENST00000229201.4	-	11	1375	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Silent_p.F408F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	408					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.F408F(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAATGAAGTGGAAGGTACGGA	0.552000													17	42					0	0	0.049695	0	0
TENM1	10178	broad.mit.edu	37	X	123780627	123780627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chrX:123780627C>T	ENST00000422452.2	-	9	1676	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	TENM1_ENST00000371130.3_Missense_Mutation_p.G538E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.G540E(1)									CTCTCCATTTCCATTGCAATT	0.373000													16	11					0	0	0.146539	0	0
CASP14	23581	broad.mit.edu	37	19	15166841	15166841	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr19:15166841G>C	ENST00000427043.3	+	7	978	c.670G>C	c.(670-672)Gca>Cca	p.A224P	CASP14_ENST00000221740.1_Missense_Mutation_p.A224P	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	224					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.A224P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						AGAAGGAAAAGCAAGGAAAAC	0.522000													4	1					0	0	0.009096	0	0
USP6NL	9712	broad.mit.edu	37	10	11504482	11504482	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr10:11504482C>T	ENST00000379237.1	-	15	2839	c.2445G>A	c.(2443-2445)agG>agA	p.R815R	USP6NL_ENST00000277575.5_Silent_p.R832R	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	815						intracellular	Rab GTPase activator activity	p.R832R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTCCCGATTCCTGTAGTGGT	0.502000													22	38					0	0	0.069288	0	0
CCL15	6359	broad.mit.edu	37	17	34325389	34325389	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr17:34325389A>G	ENST00000354059.4	-	3	727	c.175T>C	c.(175-177)Tca>Cca	p.S59P	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.S59P|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	59					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.S59P(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCTTTGTGAGATGTAGGAG	0.498000													9	19					0	0	0.069234	0	0
WAC	51322	broad.mit.edu	37	10	28900789	28900789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr10:28900789C>T	ENST00000375664.3	+	10	1849	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	WAC_ENST00000375646.1_Nonsense_Mutation_p.Q307*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q356*|WAC_ENST00000354911.4_Nonsense_Mutation_p.Q459*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	459					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.Q459*(1)|p.Q459E(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AAGCACACCTCAAACTAACAC	0.433000													61	85					0	0	0.139131	0	0
NTM	50863	broad.mit.edu	37	11	132016192	132016192	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr11:132016192C>T	ENST00000374786.1	+	2	663	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	NTM_ENST00000539799.1_Missense_Mutation_p.R62W|NTM_ENST00000425719.2_Missense_Mutation_p.R62W|NTM_ENST00000374784.1_Missense_Mutation_p.R62W|NTM_ENST00000427481.2_Missense_Mutation_p.R53W|NTM_ENST00000374791.3_Missense_Mutation_p.R62W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	62	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.R62W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TATTGACAACCGGGTCACCCG	0.577000													11	30					0	0	0.080935	0	0
LAMA1	284217	broad.mit.edu	37	18	6958505	6958505	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr18:6958505G>A	ENST00000389658.3	-	55	8028	c.7935C>T	c.(7933-7935)ggC>ggT	p.G2645G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2645	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2645G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGATACAGCCATGGAACG	0.453000													5	80					0	0	0.014758	0	0
CLSPN	63967	broad.mit.edu	37	1	36212562	36212562	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr1:36212562A>G	ENST00000251195.5	-	15	2755	c.2659T>C	c.(2659-2661)Tac>Cac	p.Y887H	CLSPN_ENST00000318121.3_Missense_Mutation_p.Y887H|CLSPN_ENST00000373220.3_Missense_Mutation_p.Y823H|CLSPN_ENST00000520551.1_Missense_Mutation_p.Y834H			Q9HAW4	CLSPN_HUMAN	claspin	887					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	p.Y887H(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGCTTGGTACTGATTCCTG	0.458000													39	90					0	0	0.117977	0	0
LAD1	3898	broad.mit.edu	37	1	201355988	201355988	+	Silent	SNP	T	T	C	rs138697867		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr1:201355988T>C	ENST00000391967.2	-	3	802	c.501A>G	c.(499-501)gaA>gaG	p.E167E	LAD1_ENST00000367313.3_Silent_p.E181E	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	167						basement membrane	structural molecule activity	p.E167E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCTTCCTCTCTTCTGGCTCCC	0.582000													3	116					0	0	0.115264	0	0
XKR7	343702	broad.mit.edu	37	20	30584388	30584388	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr20:30584388G>A	ENST00000217299.3	+	3	1042	c.868G>A	c.(868-870)Gac>Aac	p.D290N		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	290						integral to membrane		p.D290N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCGCGGGACGACAAGCGGCC	0.697000													12	17					0	0	0.080935	0	0
MAP3K7	6885	broad.mit.edu	37	6	91260267	91260267	+	Splice_Site	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr6:91260267T>C	ENST00000369329.3	-	9	1030	c.867_splice	c.e9-1	p.Y290_splice	MAP3K7_ENST00000369332.3_Splice_Site_p.Y290_splice|MAP3K7_ENST00000369327.3_Splice_Site_p.Y290_splice|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369325.3_Splice_Site_p.Y290_splice	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	290	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.Y290C(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCCTGGAAAGTACTATATATA	0.328000													18	46					0	0	0.043863	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114503	66114503	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr11:66114503C>T	ENST00000311181.4	-	1	660	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	172					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	p.E172*(1)|p.E172K(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TCCCCCGGCTCCCGGGGGTCG	0.682000													10	16					0	0	0.093190	0	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													3	90					0	0	0.014758	0	0
RFESD	317671	broad.mit.edu	37	5	94991871	94991871	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr5:94991871G>A	ENST00000458310.1	+	6	1822	c.491G>A	c.(490-492)tGc>tAc	p.C164Y	SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.C164Y|RFESD_ENST00000311364.4_Missense_Mutation_p.C111Y|RFESD_ENST00000513950.2_3'UTR	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	111							2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity	p.C111Y(1)|p.C164Y(1)		autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		CCCAAGTGGTGCTCCAAAGGA	0.383000													38	15					0	0	0.104719	0	0
HMGCL	3155	broad.mit.edu	37	1	24151854	24151854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:24151854delG	ENST00000374490.3	-	1	95	c.52delC	c.(52-54)tcfs	p.L18fs	HMGCL_ENST00000374483.4_Intron|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Frame_Shift_Del_p.L18fs	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	18					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		ACAGCCCGGAGGGACGCCAAG	0.697													2	4	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149503917	149503920	+	RNA	DEL	GATA	GATA	-	rs72359812		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr7:149503917_149503920delGATA	ENST00000378016.2	+	0	8745							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGGCCCCGGGATAGATAGAGTGT	0.652													4	6	---	---	---	---					
MAP3K12	7786	broad.mit.edu	37	12	53879112	53879114	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:53879112_53879114delCTT	ENST00000267079.2	-	6	1093_1095	c.868_870delAAG	c.(868-870)del	p.K290del	MAP3K12_ENST00000547488.1_In_Frame_Del_p.K323del|MAP3K12_ENST00000547035.1_In_Frame_Del_p.K323del	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	290	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGATGTCGACCTTCTCAGACACA	0.547													51	121	---	---	---	---					
CORO1C	23603	broad.mit.edu	37	12	109052668	109052686	+	Frame_Shift_Del	DEL	TTCCAGATGATAATGGCAT	TTCCAGATGATAATGGCAT	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:109052668_109052686delTTCCAGATGATAATGGCAT	ENST00000261401.3	-	5	630_648	c.458_476delATGCCATTATCATCTGGAA	c.(457-477)atfs	p.NAIIIWN153fs	CORO1C_ENST00000421578.2_Frame_Shift_Del_p.NAIIIWN48fs|CORO1C_ENST00000420959.2_Frame_Shift_Del_p.NAIIIWN206fs|CORO1C_ENST00000541050.1_Frame_Shift_Del_p.NAIIIWN153fs|CORO1C_ENST00000549772.1_Frame_Shift_Del_p.NAIIIWN159fs|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	153					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.W158L(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TGTTCCCACATTCCAGATGATAATGGCATTATCACAGCC	0.406													13	124	---	---	---	---					
MAP3K12	7786	broad.mit.edu	37	12	53879112	53879114	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr12:53879112_53879114delCTT	ENST00000267079.2	-	6	1093_1095	c.868_870delAAG	c.(868-870)del	p.K290del	MAP3K12_ENST00000547035.1_In_Frame_Del_p.K323del|MAP3K12_ENST00000547488.1_In_Frame_Del_p.K323del	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	290	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGATGTCGACCTTCTCAGACACA	0.547													51	121	---	---	---	---					
CORO1C	23603	broad.mit.edu	37	12	109052668	109052686	+	Frame_Shift_Del	DEL	TTCCAGATGATAATGGCAT	TTCCAGATGATAATGGCAT	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	ccb6b7f2-dfb5-41d3-a714-eef96b7bc879	g.chr12:109052668_109052686delTTCCAGATGATAATGGCAT	ENST00000261401.3	-	5	630_648	c.458_476delATGCCATTATCATCTGGAA	c.(457-477)atfs	p.NAIIIWN153fs	CORO1C_ENST00000541050.1_Frame_Shift_Del_p.NAIIIWN153fs|CORO1C_ENST00000549772.1_Frame_Shift_Del_p.NAIIIWN159fs|CORO1C_ENST00000420959.2_Frame_Shift_Del_p.NAIIIWN206fs|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Frame_Shift_Del_p.NAIIIWN48fs	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	153					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.W158L(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TGTTCCCACATTCCAGATGATAATGGCATTATCACAGCC	0.406													13	124	---	---	---	---