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
GLRB	2743	broad.mit.edu	37	4	158065079	158065079	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:158065079A>G	ENST00000264428.4	+	8	1142	c.872A>G	c.(871-873)aAc>aGc	p.N291S	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.N291S|GLRB_ENST00000509282.1_Missense_Mutation_p.N291S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	291					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTCTGGATCAACCCGGACGCG	0.488000													11	166					0	0	0.387290	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27665528	27665528	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:27665528C>T	ENST00000543753.1	+	2	158	c.111C>T	c.(109-111)gcC>gcT	p.A37A	KRTCAP3_ENST00000407293.1_Silent_p.A19A|KRTCAP3_ENST00000288873.3_Silent_p.A37A	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	37						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TGCTGGGGGCCGTGCTGCATG	0.706000													12	21					0	0	0.457914	0	0
GGT3P	0	broad.mit.edu	37	22	18778640	18778640	+	RNA	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:18778640T>C	ENST00000412448.1	-	0	765																											GGTTGTCAGGTTCCTTGGAGG	0.632000													4	28					0	0	0.217242	0	0
RGPD4	285190	broad.mit.edu	37	2	108496508	108496508	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:108496508A>T	ENST00000408999.3	+	21	5086	c.5009A>T	c.(5008-5010)aAc>aTc	p.N1670I	RGPD4_ENST00000354986.4_Missense_Mutation_p.N1670I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1670					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATCACTTAAACGGCCTGCTT	0.453000													16	275					0	0	0.539581	0	0
OR6F1	343169	broad.mit.edu	37	1	247875530	247875530	+	Missense_Mutation	SNP	G	G	T	rs144069302		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:247875530G>T	ENST00000302084.2	-	1	575	c.528C>A	c.(526-528)caC>caA	p.H176Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CACAGAAGAAGTGGTTGATGG	0.577000													6	166					0.00198382	0.00229165	0.248553	1	0
LRIT1	26103	broad.mit.edu	37	10	86001161	86001161	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:86001161G>A	ENST00000372105.3	-	1	56	c.35C>T	c.(34-36)gCc>gTc	p.A12V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	12						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCACGCAAGGGCCAAGAGCCA	0.677000													6	19					0	0	0.278610	0	0
DGKH	160851	broad.mit.edu	37	13	42763202	42763202	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr13:42763202C>T	ENST00000379274.2	+	15	1690	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	DGKH_ENST00000536612.1_Silent_p.L421L|DGKH_ENST00000337343.4_Silent_p.L557L|DGKH_ENST00000261491.4_Silent_p.L557L|DGKH_ENST00000540693.1_Silent_p.L557L|DGKH_ENST00000538674.1_Silent_p.L312L|DGKH_ENST00000498255.2_3'UTR			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	557	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCTCGAACAACTGCTGCAGGC	0.463000													6	112					0	0	0.278610	0	0
AC002055.4	0	broad.mit.edu	37	22	51237140	51237140	+	RNA	SNP	G	G	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:51237140G>C	ENST00000480246.1	+	0	390					NR_026982.1																						CAAAGCGAAGGCTTTAAAGGC	0.463000													7	78					0	0	0.361761	0	0
EIF3L	51386	broad.mit.edu	37	22	38271891	38271891	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:38271891A>G	ENST00000412331.2	+	10	1532	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	EIF3L_ENST00000406934.1_Missense_Mutation_p.Y219C|EIF3L_ENST00000381683.6_Missense_Mutation_p.Y269C	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	317						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCACATACTATTATGTTGGG	0.468000													5	348					0	0	0.217242	0	0
STIL	6491	broad.mit.edu	37	1	47728685	47728685	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:47728685C>A	ENST00000360380.3	-	16	3079	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W	STIL_ENST00000243182.6_Missense_Mutation_p.G906W|STIL_ENST00000396221.2_Missense_Mutation_p.G889W|STIL_ENST00000371877.3_Missense_Mutation_p.G907W|STIL_ENST00000337817.5_Missense_Mutation_p.G906W			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	906					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGGCACCCCCTGTTGGTCCA	0.428000													4	179					0.150653	0.165472	0.150653	1	0
ACOT2	10965	broad.mit.edu	37	14	74036497	74036497	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr14:74036497A>G	ENST00000238651.5	+	1	735	c.553A>G	c.(553-555)Acg>Gcg	p.T185A	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	185					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	p.T185A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTGTGCCAGACGCGGCACGA	0.736000													2	0					0	0	0.115264	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406654	75406654	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:75406654A>G	ENST00000394810.2	-	4	2905	c.2756T>C	c.(2755-2757)aTc>aCc	p.I919T	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.I695T|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	919	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGTTCTCCAGATGGGCTCATC	0.652000													30	40					0	0	0.796494	0	0
WDR18	57418	broad.mit.edu	37	19	991974	991974	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:991974C>T	ENST00000251289.5	+	8	974	c.951C>T	c.(949-951)gcC>gcT	p.A317A	WDR18_ENST00000587001.2_Silent_p.A317A	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	317										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAATGCCGCCATCCTGCTGG	0.711000													3	9					0	0	0.115264	0	0
C16orf71	146562	broad.mit.edu	37	16	4786629	4786629	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:4786629C>G	ENST00000299320.5	+	2	592	c.114C>G	c.(112-114)gaC>gaG	p.D38E	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.D38E	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	38										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGTCTCTGGACTCAGACTCCC	0.592000													6	138					0	0	0.217242	0	0
AC005562.1	0	broad.mit.edu	37	17	28964168	28964168	+	RNA	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr17:28964168G>A	ENST00000417404.1	+	0	4426				SMURF2P1_ENST00000578265.1_RNA																							TCATCGGGTAGATGAGACTTA	0.368000													22	16					0	0	0.608945	0	0
CCDC18	343099	broad.mit.edu	37	1	93646284	93646284	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:93646284T>C	ENST00000557479.1	+	1	365	c.197T>C	c.(196-198)tTc>tCc	p.F66S	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_5'UTR|TMED5_ENST00000370282.3_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCGCGGCGGTTCGAATTCTGT	0.706000													2	14					0	0	0.115264	0	0
CDC20B	166979	broad.mit.edu	37	5	54436230	54436230	+	Silent	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:54436230G>A	ENST00000334206.5	-	5	668	c.492C>T	c.(490-492)tgC>tgT	p.C164C	CDC20B_ENST00000322374.6_Silent_p.C164C|CDC20B_ENST00000331730.3_Silent_p.C143C|CDC20B_ENST00000296733.1_Silent_p.C164C|CDC20B_ENST00000381375.2_Silent_p.C164C			Q86Y33	CD20B_HUMAN	cell division cycle 20B	164										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTGTTTTAGGCATTTCTGAA	0.333000													26	63					0	0	0.693898	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149082	103149082	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:103149082A>G	ENST00000295269.4	+	12	2789	c.2332A>G	c.(2332-2334)Aca>Gca	p.T778A		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	778					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCGAGGTGGACAGCTGACCA	0.502000													13	23					0	0	0.457914	0	0
CENPF	1063	broad.mit.edu	37	1	214832292	214832292	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:214832292C>T	ENST00000366955.3	+	19	9230	c.9062C>T	c.(9061-9063)gCg>gTg	p.A3021V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3117	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGAAGTTAGCGCTATCCCCA	0.527000											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	198					0	0	0.217242	0	0
PRKRA	8575	broad.mit.edu	37	2	179314991	179314991	+	Silent	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:179314991G>T	ENST00000325748.4	-	2	413	c.213C>A	c.(211-213)acC>acA	p.T71T	PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000432031.2_Silent_p.T60T|PRKRA_ENST00000487082.1_Silent_p.T46T|PRKRA_ENST00000470200.1_5'UTR	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	71	DRBM 1.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGTCACCAACGGTTACTCTGA	0.438000													4	324					0.150653	0.165472	0.150653	1	0
USP51	158880	broad.mit.edu	37	X	55514658	55514658	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:55514658A>G	ENST00000500968.3	-	2	797	c.715T>C	c.(715-717)Tgt>Cgt	p.C239R	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	239					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGGGTACTACATACGTGACAG	0.453000													42	70					0	0	0.840704	0	0
DNAH8	1769	broad.mit.edu	37	6	38885723	38885723	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:38885723T>C	ENST00000359357.3	+	68	9934	c.9680T>C	c.(9679-9681)cTg>cCg	p.L3227P	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3191P|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3444P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGGATTCCTGTGGAGCCTT	0.343000													3	124					0	0	0.115264	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578954	141578954	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:141578954T>C	ENST00000442267.2	-	12	2008	c.1934A>G	c.(1933-1935)gAc>gGc	p.D645G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	645	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACACCTTGGTCCACCAGTGC	0.502000													96	154					0	0	0.870114	0	0
ZNF41	7592	broad.mit.edu	37	X	47307253	47307253	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:47307253T>G	ENST00000377065.4	-	5	2555	c.1916A>C	c.(1915-1917)gAc>gCc	p.D639A	ZNF41_ENST00000313116.7_Missense_Mutation_p.D639A|ZNF41_ENST00000397050.2_Missense_Mutation_p.D649A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	681						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCCACAGTCGCTGCATTC	0.468000													3	130					0	0	0.115264	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410420	32410420	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:32410420C>A	ENST00000395388.2	+	2	387	c.278C>A	c.(277-279)gCc>gAc	p.A93D	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.A93D	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	93	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GTGGACAAAGCCAACCTGGAA	0.493000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				80	147					2.08937e-45	2.59237e-45	0.870114	1	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	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)			52	11					1.17475e-09	1.43106e-09	0.870114	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								33	70					0	0	0.769981	0	0
MYL10	93408	broad.mit.edu	37	7	101256959	101256959	+	Missense_Mutation	SNP	G	G	T	rs141873317	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:101256959G>T	ENST00000223167.4	-	7	742	c.565C>A	c.(565-567)Cgc>Agc	p.R189S		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	189	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCACTGAAGCGGTCTGCCTGG	0.552000													4	118					0.00024832	0.000297097	0.150653	1	0
PDE1C	5137	broad.mit.edu	37	7	31877484	31877484	+	Splice_Site	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:31877484G>A	ENST00000396184.3	-	11	1286	c.1082_splice	c.e11+1	p.A361_splice	PDE1C_ENST00000396191.1_Splice_Site_p.A361_splice|PDE1C_ENST00000396193.1_Splice_Site_p.A421_splice|PDE1C_ENST00000321453.7_Splice_Site_p.A361_splice|PDE1C_ENST00000396182.2_Splice_Site_p.A361_splice	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	361	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCACACTTACGCTTCTGGCTG	0.428000													86	248					0	0	0.870114	0	0
ASPM	259266	broad.mit.edu	37	1	197072215	197072215	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:197072215C>G	ENST00000367409.4	-	18	6422	c.6166G>C	c.(6166-6168)Gct>Cct	p.A2056P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2056	IQ 15.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTTGTAAGCTCTGTATTTA	0.343000													95	193					0	0	0.870114	0	0
TAB2	23118	broad.mit.edu	37	6	149699803	149699803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:149699803C>A	ENST00000367456.1	+	4	1329	c.752C>A	c.(751-753)tCa>tAa	p.S251*	TAB2_ENST00000392282.1_Nonsense_Mutation_p.S251*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.S251*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.S251*|TAB2_ENST00000536230.1_Nonsense_Mutation_p.S219*			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	251					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|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 NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TATCAGCCTTCACAGCCTGGT	0.483000													4	280					0.00909568	0.010329	0.150653	1	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													4	130					0	0	0.150653	0	0
POC1A	25886	broad.mit.edu	37	3	52159164	52159164	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:52159164C>T	ENST00000394970.2	-	8	1164	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	POC1A_ENST00000296484.2_Missense_Mutation_p.G283R|POC1A_ENST00000474012.1_Missense_Mutation_p.G245R	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	283						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AAATACTCCCCCGTTCTTGAA	0.433000													31	76					0	0	0.788014	0	0
PIK3R1	5295	broad.mit.edu	37	5	67575480	67575480	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:67575480G>A	ENST00000521381.1	+	5	1169	c.553G>A	c.(553-555)Gct>Act	p.A185T	PIK3R1_ENST00000274335.5_Missense_Mutation_p.A185T|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A185T|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A185T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	185	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTTGGCTGACGCTTTCAAACG	0.383000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			20	174					0	0	0.667858	0	0
BCOR	54880	broad.mit.edu	37	X	39923699	39923699	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:39923699C>T	ENST00000342274.4	-	7	3754	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q	BCOR_ENST00000378444.4_Missense_Mutation_p.R1131Q|BCOR_ENST00000378463.1_Missense_Mutation_p.R8Q|BCOR_ENST00000378455.4_Missense_Mutation_p.R1113Q|BCOR_ENST00000397354.3_Missense_Mutation_p.R1131Q	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1131					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.R1131L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTGTCCACCCGGAGGGTGGG	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						29	60					0	0	0.729181	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499941	104499941	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr9:104499941C>T	ENST00000361820.3	-	1	921	c.321G>A	c.(319-321)ccG>ccA	p.P107P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	107					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGGAGCCCGGCGGCCCCCGGC	0.751000													8	6					0	0	0.335167	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78212571	78212571	+	RNA	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr15:78212571G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTGTGTCACGTGTGCGTTCA	0.572000													4	48					0	0	0.217242	0	0
ATP4A	495	broad.mit.edu	37	19	36054147	36054147	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:36054147C>T	ENST00000262623.3	-	3	208	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	60					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.A60A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTTCCAGCTCCGCCACTGACA	0.642000													4	209					0	0	0.150653	0	0
LRRC52	440699	broad.mit.edu	37	1	165513828	165513828	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:165513828G>T	ENST00000294818.1	+	1	585	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	99						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TACCTTCATCGGGGTCTTCAA	0.483000													5	316					0.000602214	0.000707866	0.184627	1	0
LAMB2	3913	broad.mit.edu	37	3	49159715	49159715	+	Silent	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:49159715G>A	ENST00000418109.1	-	29	4826	c.4662C>T	c.(4660-4662)caC>caT	p.H1554H	LAMB2_ENST00000305544.4_Silent_p.H1554H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1554	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCCGCCAGGTGCTGGATCT	0.597000													34	71					0	0	0.827153	0	0
ZNF292	23036	broad.mit.edu	37	6	87964677	87964677	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:87964677C>T	ENST00000369577.3	+	8	1373	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S	ZNF292_ENST00000339907.4_Missense_Mutation_p.P439S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCCCTTTGATCCAGAATTCTG	0.378000													3	73					0	0	0.115264	0	0
FRMD7	90167	broad.mit.edu	37	X	131216497	131216497	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:131216497A>G	ENST00000298542.4	-	9	974	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L	FRMD7_ENST00000464296.1_Missense_Mutation_p.F252L|FRMD7_ENST00000370879.1_Missense_Mutation_p.F147L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	267	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTCTTCCAGAAAGCCTTGCAG	0.463000													140	259					0	0	0.870114	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													2	4					0	0	0.115264	0	0
YES1	7525	broad.mit.edu	37	18	756710	756710	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr18:756710A>G	ENST00000584307.1	-	2	288	c.118T>C	c.(118-120)Tca>Cca	p.S40P	YES1_ENST00000577961.1_Missense_Mutation_p.S45P|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Missense_Mutation_p.S40P			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	40					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGACATGGTGACACTGTAGTG	0.453000													108	174					0	0	0.870114	0	0
ACTR3	10096	broad.mit.edu	37	2	114699855	114699855	+	Silent	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:114699855C>T	ENST00000263238.2	+	8	1097	c.777C>T	c.(775-777)atC>atT	p.I259I	ACTR3_ENST00000536059.1_Silent_p.I197I|ACTR3_ENST00000535589.2_Silent_p.I208I	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	259					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ATACTGGAATCAATGCTATCT	0.328000													55	77					0	0	0.870114	0	0
F2	2147	broad.mit.edu	37	11	46760818	46760818	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:46760818C>T	ENST00000311907.5	+	14	1785	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	F2_ENST00000530231.1_Missense_Mutation_p.P538S	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	577	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TCTTCAGAGCCCCTTTAACAA	0.478000													51	95					0	0	0.870114	0	0
BMP1	649	broad.mit.edu	37	8	22049614	22049614	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:22049614A>G	ENST00000306385.5	+	9	1800	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C	BMP1_ENST00000306349.8_Missense_Mutation_p.Y377C|BMP1_ENST00000397816.3_Missense_Mutation_p.Y377C|BMP1_ENST00000397814.3_Missense_Mutation_p.Y377C|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	377	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGCTGGTACGACTATGTG	0.607000													3	121					0	0	0.150653	0	0
POLR1A	25885	broad.mit.edu	37	2	86316951	86316951	+	Silent	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:86316951G>A	ENST00000263857.6	-	4	912	c.534C>T	c.(532-534)ggC>ggT	p.G178G	POLR1A_ENST00000409681.1_Silent_p.G178G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	178					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCACATGTGCGCCCTGGGACC	0.458000													40	86					0	0	0.864702	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415996	121415996	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:121415996G>T	ENST00000393667.3	-	13	3484	c.3374C>A	c.(3373-3375)gCa>gAa	p.A1125E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1120E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1120					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGGATAATTGCTTGGTTTTC	0.418000													4	279					0.184627	0.199517	0.184627	1	0
OR2W3	343171	broad.mit.edu	37	1	248058977	248058977	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:248058977T>C	ENST00000537741.1	+	3	346	c.89T>C	c.(88-90)gTc>gCc	p.V30A	OR2W3_ENST00000360358.3_Missense_Mutation_p.V30A			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTTGTGGTCATCCTGATC	0.567000													3	155					0	0	0.115264	0	0
CEP170	9859	broad.mit.edu	37	1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408000													14	105					0	0	0.639603	0	0
FRMD1	79981	broad.mit.edu	37	6	168479688	168479688	+	Silent	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:168479688T>C	ENST00000283309.6	-	1	151	c.87A>G	c.(85-87)gaA>gaG	p.E29E		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	29						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGGACTGGGTTCCATACATC	0.652000													4	102					0	0	0.150653	0	0
KAL1	3730	broad.mit.edu	37	X	8555923	8555923	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:8555923T>C	ENST00000262648.3	-	5	787	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	213	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GATCACAGGCTCAATAGAAAT	0.468000													19	22					0	0	0.575678	0	0
WNT11	7481	broad.mit.edu	37	11	75902837	75902837	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:75902837G>A	ENST00000322563.3	-	4	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	221					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.R221C(3)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGCAGGTGCGGATGGAGCAG	0.637000													4	89					0	0	0.150653	0	0
RABEP2	79874	broad.mit.edu	37	16	28922261	28922261	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:28922261C>T	ENST00000358201.4	-	7	1625	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	RABEP2_ENST00000544477.1_Missense_Mutation_p.R275Q|RABEP2_ENST00000357573.6_Missense_Mutation_p.R314Q	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	346					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TTGCAGGGTCCGCAGCAGCTG	0.677000													4	51					0	0	0.184627	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	RNA	DEL	AAC	AAC	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345													3	5	---	---	---	---					
NBPF10	100132406	broad.mit.edu	37	1	145328401	145328406	+	In_Frame_Del	DEL	GAAGAC	GAAGAC	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:145328401_145328406delGAAGAC	ENST00000342960.5	+	33	4284_4289	c.4249_4254delGAAGAC	c.(4249-4254)del	p.ED1419del	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1419										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAGAGGAAGAAGACGAAGACCAAG	0.466													3	3	---	---	---	---					
SDHAP1	0	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	6	---	---	---	---					
AF146191.4	0	broad.mit.edu	37	4	190818970	190818974	+	RNA	DEL	AGGAA	AGGAA	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:190818970_190818974delAGGAA	ENST00000511785.1	-	0	231																											agggagagcgaggaaaggaaaggaa	0.483													3	6	---	---	---	---					
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	RNA	INS	-	-	TAAAA	rs80243332	by1000genomes	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361													2	4	---	---	---	---					
ZNF16	7564	broad.mit.edu	37	8	146156188	146156191	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:146156188_146156191delCAAG	ENST00000276816.4	-	4	2168_2171	c.1982_1985delCTTG	c.(1981-1986)gtfs	p.AC661fs	ZNF16_ENST00000394909.2_Frame_Shift_Del_p.AC661fs	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGCTTTCCCACAAGCAGCACAGTC	0.525													13	227	---	---	---	---					
LINC00922	0	broad.mit.edu	37	16	65578112	65578127	+	RNA	DEL	AGGGAGGGAGGGAGGG	AGGGAGGGAGGGAGGG	-	rs151147079	by1000genomes	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:65578112_65578127delAGGGAGGGAGGGAGGG	ENST00000569736.1	-	0	217					NR_027755.1																						gaaggaaggaagggagggagggagggaggaaggaag	0.505													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76854942	76854942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:76854942delC	ENST00000373344.5	-	25	6108	c.5894delG	c.(5893-5895)gtfs	p.G1966fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1928fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1966					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	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)	TCCTTCACCACCTCCCCGAGA	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						308	498	---	---	---	---