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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KIAA1407	57577	broad.mit.edu	37	3	113761686	113761686	+	Silent	SNP	C	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:113761686C>T	uc003eax.3	-	3	426	c.279G>A	c.(277-279)gaG>gaA	p.E93E	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Silent_p.E71E|KIAA1407_uc011bip.1_Silent_p.E80E	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	93										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CATTGACCAGCTCCTGAGCTA	0.333000														137			48		0	0	0.014410	0	0
PKHD1	5314	broad.mit.edu	37	6	51513908	51513908	+	Missense_Mutation	SNP	G	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:51513908G>T	uc003pah.1	-	61	11561	c.11285C>A	c.(11284-11286)cCa>cAa	p.P3762Q		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3762					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACCAATTGTGGCTGCACTGG	0.413000														132			82		1.55521e-42	1.91161e-42	0.014410	1	0
CMA1	1215	broad.mit.edu	37	14	24976583	24976583	+	Missense_Mutation	SNP	G	A	A	rs13306251	by1000genomes	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr14:24976583G>A	uc001wpp.1	-	1	218	c.188C>T	c.(187-189)aCg>aTg	p.T63M	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	63	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488000														163			83		0	0	0.014410	0	0
CHAT	1103	broad.mit.edu	37	10	50901834	50901834	+	Nonstop_Mutation	SNP	G	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:50901834G>T	uc010qgs.1	+	14	1878	c.1638G>T	c.(1636-1638)taG>taT	p.*546Y	C10orf53_uc001jib.3_Missense_Mutation_p.D38Y|C10orf53_uc001jic.1_Missense_Mutation_p.D38Y|C10orf53_uc001jid.1_Missense_Mutation_p.D38Y	NM_020986	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant N2, mRNA.	0					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTTGGCCATAGATGGACATGA	0.463000														127			12		2.27111e-07	2.62736e-07	0.013537	1	0
MUC4	4585	broad.mit.edu	37	3	195475779	195475779	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:195475779C>T	uc021xjp.1	-	23	16184	c.16028G>A	c.(16027-16029)cGc>cAc	p.R5343H	MUC4_uc010hzq.3_Missense_Mutation_p.R200H|MUC4_uc003fuz.3_Missense_Mutation_p.R941H|MUC4_uc003fva.3_Missense_Mutation_p.R823H|MUC4_uc003fvb.3_Missense_Mutation_p.R859H|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.R859H|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.R852H|MUC4_uc021xjn.1_Missense_Mutation_p.R1032H|MUC4_uc021xjo.1_Missense_Mutation_p.R823H|MUC4_uc021xjg.1_Missense_Mutation_p.R823H|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.R907H|MUC4_uc021xjj.1_Missense_Mutation_p.R907H|MUC4_uc021xjk.1_Missense_Mutation_p.R1084H|MUC4_uc021xjl.1_Missense_Mutation_p.R823H|MUC4_uc003fvo.3_Missense_Mutation_p.R1107H|MUC4_uc003fvp.3_Missense_Mutation_p.R1056H	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	2100					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCACCTGCAGCGGGGCCCACT	0.647000														234			24		0	0	0.003954	0	0
COL25A1	84570	broad.mit.edu	37	4	109765700	109765700	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:109765700C>T	uc021xqo.1	-	28	1660	c.1604G>A	c.(1603-1605)gGt>gAt	p.G535D	COL25A1_uc003hze.1_Missense_Mutation_p.G535D|COL25A1_uc021xqp.1_Missense_Mutation_p.G535D|COL25A1_uc003hzg.3_Missense_Mutation_p.G535D|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.G293D	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	535						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		gccatggggacctggtgggcc	0.433000														100			48		0	0	0.014410	0	0
MMP19	4327	broad.mit.edu	37	12	56233333	56233333	+	Missense_Mutation	SNP	C	T	T	rs138516871		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:56233333C>T	uc001sib.3	-	4	834	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	MMP19_uc001sia.3_5'UTR|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Intron	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	238					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AAAGTGGGGCCGGTAGCCCTC	0.617000														63			18		0	0	0.007413	0	0
ETAA1	54465	broad.mit.edu	37	2	67631847	67631847	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:67631847A>G	uc002sdz.1	+	4	2172	c.2033A>G	c.(2032-2034)aAc>aGc	p.N678S		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	678						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGAGCCAAAAACATGTTTGCT	0.363000														110			90		0	0	0.014410	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994303	83994303	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr16:83994303C>T	uc002fha.3	+	4	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	OSGIN1_uc002fhb.3_Missense_Mutation_p.R112W|OSGIN1_uc002fhc.3_Missense_Mutation_p.R112W	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	195					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGGAAGCACCGGAAGGAGCA	0.657000														101			21		0	0	0.014323	0	0
NAT8	9027	broad.mit.edu	37	2	73868641	73868641	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73868641G>C	uc021vjj.1	-	0	115	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	NAT8_uc002sji.1_Missense_Mutation_p.L39V	NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	Homo sapiens N-acetyltransferase 8 (GCN5-related, putative) (NAT8), mRNA.	39					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GTTCGAGGCAGCTTCAGCAAT	0.622000														209			63		0	0	0.014410	0	0
ATRX	546	broad.mit.edu	37	X	76814313	76814313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:76814313G>A	uc004ecp.4	-	28	6563	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R2073*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1896*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2111	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R2111*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAAATAATCGTCCTCTGAAA	0.274000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							1			69		0	0	0.014410	0	0
SLC6A13	6540	broad.mit.edu	37	12	346407	346407	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:346407G>A	uc001qic.2	-	5	703	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	SLC6A13_uc009zdj.2_Missense_Mutation_p.R205C|SLC6A13_uc010sdl.2_Missense_Mutation_p.R113C|SLC6A13_uc010sdm.1_Missense_Mutation_p.R86C	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	205					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCTCCCAGCGCAGGGCCCCC	0.602000														269			5		0	0	0.000602	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40258023	40258023	+	Silent	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr15:40258023G>A	uc001zkm.1	+	7	1046	c.996G>A	c.(994-996)aaG>aaA	p.K332K	EIF2AK4_uc001zkl.3_Silent_p.K332K|EIF2AK4_uc010bbj.1_Silent_p.K61K	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	332	Protein kinase 1.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAAAGAGAAGATTGATAAGT	0.443000														115			37		0	0	0.004289	0	0
ALMS1	7840	broad.mit.edu	37	2	73718168	73718168	+	Missense_Mutation	SNP	T	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73718168T>G	uc002sje.1	+	9	9190	c.9079T>G	c.(9079-9081)Tgt>Ggt	p.C3027G	ALMS1_uc002sjf.1_Missense_Mutation_p.C2985G|ALMS1_uc002sjg.3_Missense_Mutation_p.C2415G|ALMS1_uc002sjh.1_Missense_Mutation_p.C2415G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3027					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAAATCACTGTACATTAGC	0.378000														195			64		0	0	0.014410	0	0
NEBL	10529	broad.mit.edu	37	10	21097515	21097515	+	Silent	SNP	G	A	A	rs140245727	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:21097515G>A	uc001iqi.3	-	25	3082	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	895	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACCTGTCGTCTCCGAGAC	0.458000														331			7		0	0	0.003080	0	0
ANKRD36	375248	broad.mit.edu	37	2	97875420	97875420	+	Missense_Mutation	SNP	T	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:97875420T>G	uc010yva.2	+	54	3512	c.3268T>G	c.(3268-3270)Tct>Gct	p.S1090A		NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	1090										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTTTTCAGTGTCTTCTCGGAA	0.358000														95			14		0	0	0.007413	0	0
LGI1	9211	broad.mit.edu	37	10	95557106	95557106	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:95557106G>A	uc001kjc.4	+	7	1556	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.R359H|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	407					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTTCCCAGCGTCCTGTAATT	0.433000														82			113		0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62287998	62287998	+	Missense_Mutation	SNP	C	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:62287998C>A	uc001ntl.3	-	4	14191	c.13891G>T	c.(13891-13893)Gac>Tac	p.D4631Y	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4631			D -> G (in dbSNP:rs12801123).	RD -> KG (in Ref. 2; AAA69898).	nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTGGGGTCCCTGATGTCA	0.522000														338			100		2.6645e-62	3.41751e-62	0.014410	1	0
KCNJ13	3769	broad.mit.edu	37	2	233633140	233633140	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:233633140A>G	uc002vto.3	-	1	887	c.844T>C	c.(844-846)Tgc>Cgc	p.C282R	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Missense_Mutation_p.C282R|KCNJ13_uc021vyk.1_Missense_Mutation_p.C202R	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	282						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CTCCTTTGGCATATTTCTCCA	0.433000														120			131		0	0	0.014410	0	0
RINT1	60561	broad.mit.edu	37	7	105189063	105189063	+	Missense_Mutation	SNP	C	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr7:105189063C>A	uc003vda.1	+	6	1133	c.902C>A	c.(901-903)tCt>tAt	p.S301Y	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	301	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCTCCCCTTCTGTCATCCTG	0.443000														347			98		9.15355e-43	1.14906e-42	0.014410	1	0
PHF3	23469	broad.mit.edu	37	6	64356551	64356551	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:64356551A>G	uc003pep.1	+	0	120	c.95A>G	c.(94-96)gAg>gGg	p.E32G	PHF3_uc010kaf.1_Missense_Mutation_p.E32G|PHF3_uc003pem.2_5'UTR|PHF3_uc010kag.1_Intron|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_5'UTR|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.E32G	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	32					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGTCTGTGAGGATTTTAGT	0.393000														143			49		0	0	0.014410	0	0
ACCS	84680	broad.mit.edu	37	11	44089197	44089197	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:44089197A>G	uc009yks.1	+	1	164	c.20A>G	c.(19-21)aAg>aGg	p.K7R	ACCS_uc010rfm.1_5'UTR|ACCS_uc010rfn.2_Missense_Mutation_p.K7R|ACCS_uc001mxx.2_Missense_Mutation_p.K7R	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	7							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTTCCTCAAAAGGACTTCAGG	0.537000														139			3		0	0	0.004672	0	0
PRDM15	63977	broad.mit.edu	37	21	43281674	43281674	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr21:43281674G>A	uc002yzq.1	-	6	1000	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GTGCGCACCGGCATGTCCTTC	0.532000														146			4		0	0	0.001168	0	0
MAP3K5	4217	broad.mit.edu	37	6	136932510	136932510	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:136932510T>C	uc003qhc.3	-	17	2792	c.2431A>G	c.(2431-2433)Att>Gtt	p.I811V	MAP3K5_uc011edj.2_Missense_Mutation_p.I58V|MAP3K5_uc011edk.1_Missense_Mutation_p.I656V	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	811	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAGGTATTAATCAACACATTG	0.368000														123			7		0	0	0.001984	0	0
FYCO1	79443	broad.mit.edu	37	3	46014621	46014621	+	Silent	SNP	C	T	T	rs149291592	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:46014621C>T	uc011bal.1	-	4	610	c.498G>A	c.(496-498)tcG>tcA	p.S166S	FYCO1_uc003cpb.4_Silent_p.S166S	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	166	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.A165V(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAAAGCCCCTCGACGCCAGGT	0.483000														74			26		0	0	0.003954	0	0
WASH7P	653635	broad.mit.edu	37	1	15029	15029	+	RNA	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:15029G>A	uc009vis.3	-	2		c.316C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		ACCTTGGCTCGTGGCTCTCAC	0.632000														14			3		0	0	0.001168	0	0
STK3	6788	broad.mit.edu	37	8	99779474	99779474	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:99779474T>C	uc003yio.3	-	4	791	c.317A>G	c.(316-318)gAc>gGc	p.D106G	STK3_uc003yip.3_Missense_Mutation_p.D78G|STK3_uc010mbm.1_Missense_Mutation_p.D78G	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	78	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	p.G105A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTCATACCTGTCACATTGCTG	0.313000														60			54		0	0	0.014410	0	0
DDX11L11	0	broad.mit.edu	37	12	92081	92081	+	Nonsense_Mutation	SNP	C	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:92081C>A	uc010sdi.1	-	1	257	c.229G>T	c.(229-231)Gga>Tga	p.G77*	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		ACACCGTCTCCAGCGGGCAGA	0.597000														29			7		5.18039e-06	5.76685e-06	0.003080	1	0
KIAA1653	0	broad.mit.edu	37	22	20294162	20294162	+	RNA	SNP	C	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr22:20294162C>G	uc002zrw.1	+	0		c.2602C>G								Homo sapiens mRNA for KIAA1653 protein, partial cds.																		CTCACTTGAGCAATAGTTGCT	0.647000														14			2		0	0	0.004672	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971495	118971495	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:118971495G>A	uc001pvi.3	-	2	761	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_uc001pvj.3_Missense_Mutation_p.A7V|DPAGT1_uc001pvk.3_Intron|DPAGT1_uc001pvm.1_Missense_Mutation_p.A7V|DPAGT1_uc010rza.2_Missense_Mutation_p.A7V	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	114					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TACATCATCCGCAAAGCCCAG	0.567000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			4		0	0	0.009096	0	0
SPATC1	375686	broad.mit.edu	37	8	145101698	145101698	+	Silent	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:145101698G>A	uc011lkw.2	+	4	1719	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	SPATC1_uc011lkx.2_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	539										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGAGCGCCCGGAGCTGGCGG	0.687000														132			4		0	0	0.001168	0	0
HECW2	57520	broad.mit.edu	37	2	197298053	197298053	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:197298053G>A	uc002utm.1	-	1	278	c.95C>T	c.(94-96)gCc>gTc	p.A32V		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	32					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTCTGGGCGGCAAGGCTCTG	0.602000														231			5		0	0	0.000602	0	0
ABCB10	23456	broad.mit.edu	37	1	229685030	229685030	+	Silent	SNP	C	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:229685030C>G	uc001htp.4	-	1	712	c.669G>C	c.(667-669)ctG>ctC	p.L223L		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	223	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGCACCACACAGAAACACGG	0.522000														68			15		0	0	0.012319	0	0
ALKBH6	84964	broad.mit.edu	37	19	36501795	36501795	+	Splice_Site	SNP	C	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr19:36501795C>T	uc002ocv.1	-	5	426	c.420_splice	c.e5+1	p.M140_splice	C19orf46_uc021utd.1_5'Flank|C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocw.1_Splice_Site_p.M140_splice|ALKBH6_uc002ocx.1_Splice_Site_p.M43_splice|ALKBH6_uc010eeo.1_Splice_Site_p.M112_splice|ALKBH6_uc010eep.1_Missense_Mutation_p.V141I	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	Homo sapiens alkB, alkylation repair homolog 6 (E. coli) (ALKBH6), transcript variant 2, mRNA.	112	Fe2OG dioxygenase.					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGTGGTTACCATGATGCCC	0.592000														88			35		0	0	0.003271	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									83			107		0	0	0.014410	0	0
EPHA3	2042	broad.mit.edu	37	3	89448615	89448615	+	Nonsense_Mutation	SNP	G	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:89448615G>T	uc003dqy.3	+	6	1804	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	EPHA3_uc003dqx.1_Nonsense_Mutation_p.E527*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.E527*	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	527	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTTGAGTTTGAAACTAGTCC	0.448000										TSP Lung(6;0.00050)				92			30		1.57351e-24	1.85675e-24	0.003755	1	0
MAN2A2	4122	broad.mit.edu	37	15	91450665	91450665	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr15:91450665G>A	uc010bnz.2	+	7	1251	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	MAN2A2_uc010boa.3_Missense_Mutation_p.R421H|MAN2A2_uc002bqc.3_Missense_Mutation_p.R379H|MAN2A2_uc010uql.2_Missense_Mutation_p.R83H|MAN2A2_uc010uqm.2_Missense_Mutation_p.A26T	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	379					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.R379C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGTGGGCGCATCAACTGC	0.567000														184			5		0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113988170	113988170	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:113988170T>C	uc003ynu.3	-	6	1397	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CSMD3_uc003ynt.3_Missense_Mutation_p.D373G|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	413						integral to membrane|plasma membrane		p.K412M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGAGCCCGTCCTTGGACGT	0.478000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				265			73		0	0	0.014410	0	0
AKNA	80709	broad.mit.edu	37	9	117139492	117139492	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:117139492T>C	uc004biq.3	-	1	730	c.595A>G	c.(595-597)Agg>Ggg	p.R199G	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.R118G|AKNA_uc004bir.3_Missense_Mutation_p.R199G|AKNA_uc004bis.3_Missense_Mutation_p.R199G|AKNA_uc010mve.2_Missense_Mutation_p.R80G|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.R199G|AKNA_uc004biw.1_Missense_Mutation_p.R199G	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCCAGGACCTTGCCGGGCTG	0.612000														61			87		0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr17:7578550G>T	uc002gim.2	-	4	574	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.3_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.S88Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(44)|p.S127Y(16)|p.Y126_K132delYSPALNK(12)|p.S127C(10)|p.Y126*(10)|p.0?(8)|p.S127T(6)|p.Y126N(6)|p.Y126_N131delYSPALN(6)|p.Y126D(5)|p.S127P(4)|p.Y126C(4)|p.A129fs*20(3)|p.S127_Q136del10(2)|p.S127fs*42(2)|p.Y126fs*11(2)|p.P128fs*42(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126fs*18(2)|p.S127fs*36(2)|p.Y126Y(1)|p.S127S(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*22(1)|p.Y126_S127insQPHH(1)|p.S34F(1)|p.?(1)|p.A36fs*20(1)|p.P13fs*18(1)|p.P128fs*18(1)|p.Y126fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				0			44		1.00001e-27	1.20409e-27	0.009718	1	0
PLEC	5339	broad.mit.edu	37	8	145007212	145007212	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:145007212C>T	uc003zaf.1	-	13	2067	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	PLEC_uc003zab.1_Missense_Mutation_p.V496M|PLEC_uc003zac.1_Missense_Mutation_p.V500M|PLEC_uc003zad.2_Missense_Mutation_p.V496M|PLEC_uc003zae.1_Missense_Mutation_p.V464M|PLEC_uc003zag.1_Missense_Mutation_p.V474M|PLEC_uc003zah.2_Missense_Mutation_p.V482M|PLEC_uc003zaj.2_Missense_Mutation_p.V523M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	633	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGCCGCCACGCCTGCCTTC	0.662000														4			3		0	0	0.008291	0	0
GBP3	2635	broad.mit.edu	37	1	89486247	89486247	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:89486247T>C	uc001dmt.3	-	1	363	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	GBP3_uc010oss.2_5'UTR|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.Y53C	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	53						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTCATCAGGTAGGATTTTCC	0.517000														159			30		0	0	0.006320	0	0
PAX6	5080	broad.mit.edu	37	11	31815341	31815341	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:31815341A>G	uc009yjr.3	-	9	1244	c.775T>C	c.(775-777)Tct>Cct	p.S259P	PAX6_uc001mtd.4_Missense_Mutation_p.S259P|PAX6_uc001mte.4_Missense_Mutation_p.S259P|PAX6_uc001mtg.4_Missense_Mutation_p.S273P|PAX6_uc001mtf.4_Missense_Mutation_p.S259P|PAX6_uc001mth.4_Missense_Mutation_p.S259P|PAX6_uc021qfl.1_Missense_Mutation_p.S273P|PAX6_uc021qfm.1_Missense_Mutation_p.S273P|PAX6_uc021qfn.1_Missense_Mutation_p.S259P	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	259					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTTCGATTAGAAAACCATACC	0.522000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					5			78		0	0	0.014410	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26898350	26898350	+	Missense_Mutation	SNP	G	T	T			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:26898350G>T	uc001bmr.1	+	18	1926	c.1763G>T	c.(1762-1764)cGc>cTc	p.R588L	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R496L|RPS6KA1_uc010off.1_Missense_Mutation_p.R572L|RPS6KA1_uc001bms.1_Missense_Mutation_p.R597L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R431L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	588	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGCTGAAGCGCCAGGGCTAC	0.627000														35			27		3.00307e-07	3.40733e-07	0.008361	1	0
PCSK5	5125	broad.mit.edu	37	9	78965754	78965754	+	Silent	SNP	G	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:78965754G>A	uc004akc.2	+	34	5434	c.4896G>A	c.(4894-4896)gcG>gcA	p.A1632A		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	797					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAAAAGGAGCGTTGAATTGTT	0.448000														128			129		0	0	0.014410	0	0
CNGA1	1259	broad.mit.edu	37	4	47938995	47938995	+	Missense_Mutation	SNP	T	A	A			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:47938995T>A	uc003gxu.3	-	9	1864	c.1723A>T	c.(1723-1725)Att>Ttt	p.I575F	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.I506F	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	506					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTCTTGCAAATATAATCTCCA	0.438000														283			16		0	0	0.004990	0	0
MST1P2	11209	broad.mit.edu	37	1	16974141	16974141	+	RNA	DEL	G	-	-			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:16974141delG	uc009vow.2	+	4		c.951delG			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGGCTTGGCCGGGGAGGTCAG	0.667													---	8	---	---	4	---					
C3orf52	79669	broad.mit.edu	37	3	111835572	111835572	+	Frame_Shift_Del	DEL	G	-	-			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:111835572delG	uc011bhs.2	+	3	553	c.480delG	c.(478-480)cagfs	p.Q160fs	C3orf52_uc003dyq.4_3'UTR|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Non-coding_Transcript	NM_001171747	NP_001165218	Q5BVD1	TTMP_HUMAN	Homo sapiens chromosome 3 open reading frame 52 (C3orf52), transcript variant 1, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTGTTTTGCAGAAAAGATTCT	0.458													---	8	---	---	7	---					
DYNLL1	8655	broad.mit.edu	37	12	120935907	120935908	+	Frame_Shift_Ins	INS	-	TT	TT	rs142458935	by1000genomes	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:120935907_120935908insTT	uc001tyj.3	+	2	418_419	c.164_165insTT	c.(163-165)catfs	p.H55fs	LOC100506668_uc001tyk.2_5'Flank|DYNLL1_uc001tyl.3_Frame_Shift_Ins_p.H55fs|DYNLL1_uc001tym.3_Frame_Shift_Ins_p.H55fs	NM_001037494	NP_003737	P63167	DYL1_HUMAN	Homo sapiens dynein, light chain, LC8-type 1 (DYNLL1), transcript variant 1, mRNA.	55					G2/M transition of mitotic cell cycle|actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCACCTGGCATTGCATCGTGG	0.426													---	58	---	---	35	---					
KIAA0182	23199	broad.mit.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	C	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr16:85682289_85682290insC	uc002fix.3	+	2	432_433	c.358_359insC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													---	197	---	---	8	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	C	C			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													---	421	---	---	8	---					
