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
ZNF71	58491	broad.mit.edu	37	19	57132875	57132875	+	Missense_Mutation	SNP	G	G	A	rs141566979	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:57132875G>A	ENST00000328070.6	+	3	454	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A74T(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCAGTACCCGCATGTCATGA	0.617000													11	68					0	0	0.411799	0	0
NLRP4	147945	broad.mit.edu	37	19	56369610	56369610	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:56369610C>T	ENST00000301295.6	+	3	1273	c.851C>T	c.(850-852)cCg>cTg	p.P284L	NLRP4_ENST00000587891.1_Missense_Mutation_p.P209L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P284L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	284	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCGTGTGCCCGAAGGAGCTC	0.537000													29	142					0	0	0.717897	0	0
SCN3A	6328	broad.mit.edu	37	2	165970378	165970378	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:165970378T>C	ENST00000360093.3	-	20	4108	c.3617A>G	c.(3616-3618)aAc>aGc	p.N1206S	SCN3A_ENST00000409101.3_Missense_Mutation_p.N1157S|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1206S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1206						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCAAACCAGTTGTGCTCAAC	0.378000													40	135					0	0	0.864702	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957066	73957066	+	Silent	SNP	T	T	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:73957066T>A	ENST00000358602.4	-	29	6395	c.6279A>T	c.(6277-6279)ccA>ccT	p.P2093P	ANKRD17_ENST00000509867.2_Silent_p.P1980P|ANKRD17_ENST00000330838.6_Silent_p.P1842P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2093	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGCTGTTTGGAGGTCTAG	0.473000													48	141					0	0	0.870114	0	0
C8orf74	203076	broad.mit.edu	37	8	10557893	10557893	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr8:10557893C>T	ENST00000304519.5	+	4	826	c.797C>T	c.(796-798)cCg>cTg	p.P266L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	266										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCCCTATCCCGCCCCCCATC	0.587000													19	19					0	0	0.557998	0	0
KLHL41	10324	broad.mit.edu	37	2	170374777	170374777	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:170374777G>A	ENST00000284669.1	+	4	1531	c.1454G>A	c.(1453-1455)cGt>cAt	p.R485H	BBS5_ENST00000554017.1_Missense_Mutation_p.R423H|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R423H|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2			kelch-like family member 41																		AAAATTCCTCGTTCCATGTTT	0.388000													9	77					0	0	0.387290	0	0
C9orf96	169436	broad.mit.edu	37	9	136256485	136256485	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:136256485A>T	ENST00000371957.3	+	7	603	c.496A>T	c.(496-498)Atc>Ttc	p.I166F	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	166	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CATCATCCTCATCAGCAGTGA	0.552000													78	316					0	0	0.870114	0	0
BEND2	139105	broad.mit.edu	37	X	18234679	18234679	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:18234679C>T	ENST00000380033.4	-	2	332	c.200G>A	c.(199-201)gGc>gAc	p.G67D	BEND2_ENST00000380030.3_Missense_Mutation_p.G67D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	67										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCCATCATTGCCGCCTGGAAA	0.408000													38	6					0	0	0.847076	0	0
ZNF845	91664	broad.mit.edu	37	19	53854880	53854880	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:53854880A>G	ENST00000458035.1	+	4	1069	c.952A>G	c.(952-954)Aag>Gag	p.K318E	ZNF845_ENST00000595091.1_Missense_Mutation_p.K318E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGTAATTCATAAGGCAATTCA	0.413000													41	67					0	0	0.834066	0	0
ATRX	546	broad.mit.edu	37	X	76940083	76940083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:76940083C>T	ENST00000373344.5	-	9	879	c.665G>A	c.(664-666)tGg>tAg	p.W222*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.W184*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	222	ADD.		W -> S (in ATRX).		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)	TTCCGCACACCACCTGAAATG	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						81	13					0	0	0.870114	0	0
RARG	5916	broad.mit.edu	37	12	53609147	53609147	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:53609147G>A	ENST00000425354.2	-	5	892	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RARG_ENST00000327550.3_Silent_p.N63N|RARG_ENST00000394426.1_Silent_p.N135N|RARG_ENST00000543726.1_Silent_p.N113N|RARG_ENST00000338561.5_Silent_p.N124N|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	135					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGTCACCTTGTTGATGATAC	0.547000													27	113					0	0	0.740014	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	85					0	0	0.184627	0	0
REPS1	85021	broad.mit.edu	37	6	139247539	139247539	+	Splice_Site	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:139247539G>C	ENST00000450536.2	-	10	1911	c.1338_splice	c.e10+1	p.P446_splice	REPS1_ENST00000367663.4_Intron|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000258062.5_Splice_Site_p.P446_splice|REPS1_ENST00000415951.2_Intron			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	446						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTGACTTACAGGATCAGCTGG	0.393000													12	12					0	0	0.387290	0	0
SMAD9	4093	broad.mit.edu	37	13	37427768	37427768	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37427768C>T	ENST00000379826.4	-	6	1390	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SMAD9_ENST00000350148.5_Missense_Mutation_p.V313M|SMAD9_ENST00000399275.2_Missense_Mutation_p.V350M	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	350	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTGTCACTCACGCACTCGGCA	0.562000													6	43					0	0	0.248553	0	0
FAM174A	345757	broad.mit.edu	37	5	99897847	99897847	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:99897847A>T	ENST00000312637.4	+	2	750	c.524A>T	c.(523-525)gAt>gTt	p.D175V	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	175						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAACAGGATGATGAGGATGAT	0.383000													29	61					0	0	0.740014	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606491	84606491	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:84606491C>G	ENST00000344803.2	+	4	1153	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCTTTTTCCTCTAATTTTGTG	0.483000													15	69					0	0	0.500413	0	0
AICDA	57379	broad.mit.edu	37	12	8757943	8757943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:8757943G>A	ENST00000229335.6	-	3	398	c.295C>T	c.(295-297)Cga>Tga	p.R99*	AICDA_ENST00000537228.1_Nonsense_Mutation_p.R99*	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	99					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGGTTCCCTCGCAGAAAGTCG	0.667000													15	56					0	0	0.500413	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703701	60703701	+	Silent	SNP	A	A	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:60703701A>T	ENST00000005286.4	+	11	2550	c.2397A>T	c.(2395-2397)gcA>gcT	p.A799A	TMEM132A_ENST00000453848.2_Silent_p.A798A	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	798	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCAGGTGGCAGGCAGTGTCG	0.662000													11	60					0	0	0.479597	0	0
ATP5O	539	broad.mit.edu	37	21	35288047	35288047	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr21:35288047G>A	ENST00000290299.2	-	1	237	c.21C>T	c.(19-21)tcC>tcT	p.S7S	LINC00649_ENST00000596365.1_RNA|LINC00649_ENST00000597626.1_RNA|LINC00649_ENST00000598119.1_RNA	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						GGGAGAGCCCGGACACTGCTG	0.652000													5	4					0	0	0.184627	0	0
NEK8	284086	broad.mit.edu	37	17	27068158	27068158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:27068158C>T	ENST00000268766.6	+	13	1829	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	599						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAATACTCGCCGAGGCAGTCG	0.572000													24	109					0	0	0.693898	0	0
GJA1	2697	broad.mit.edu	37	6	121769068	121769068	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:121769068G>T	ENST00000282561.3	+	2	1232	c.1075G>T	c.(1075-1077)Gtg>Ttg	p.V359L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	359					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ACTAGCCATTGTGGACCAGCG	0.493000													29	119					4.65686e-17	5.04494e-17	0.788014	1	0
MT-CYB	4519	broad.mit.edu	37	MT	14831	14831	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrM:14831G>A	ENST00000361789.2	+	1	85	c.85G>A	c.(85-87)Gca>Aca	p.29_29insT						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CCAACATCTCCGCATGATGAA	0.483000													12	89					0	0	0.387290	0	0
RSPH9	221421	broad.mit.edu	37	6	43612865	43612865	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:43612865G>A	ENST00000372165.4	+	1	83	c.30G>A	c.(28-30)ctG>ctA	p.L10L	RSPH9_ENST00000372163.4_Silent_p.L10L	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	10					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTGTCTCTGGAGCTGGCGT	0.657000									Kartagener syndrome				7	53					0	0	0.307466	0	0
ZFP57	346171	broad.mit.edu	37	6	29641322	29641322	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:29641322T>A	ENST00000376883.1	-	6	917	c.506A>T	c.(505-507)tAc>tTc	p.Y169F	ZFP57_ENST00000376881.3_Missense_Mutation_p.Y169F|ZFP57_ENST00000488757.1_Missense_Mutation_p.Y189F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	105					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCTATAGAGGTAGGAGCGCCT	0.542000													24	95					0	0	0.654019	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011230	73011230	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr7:73011230C>G	ENST00000313375.3	-	10	1683	c.1636G>C	c.(1636-1638)Gta>Cta	p.V546L	MLXIPL_ENST00000414749.2_Missense_Mutation_p.V546L|MLXIPL_ENST00000354613.1_Missense_Mutation_p.V546L|MLXIPL_ENST00000395189.1_Missense_Mutation_p.V453L|MLXIPL_ENST00000434326.1_Missense_Mutation_p.V453L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.V546L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	546					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCTGGATACAAGTGGTGGC	0.672000													2	23					0	0	0.115264	0	0
CCNA1	8900	broad.mit.edu	37	13	37015366	37015366	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37015366T>C	ENST00000418263.1	+	7	1557	c.1207T>C	c.(1207-1209)Tgg>Cgg	p.W403R	CCNA1_ENST00000440264.1_Missense_Mutation_p.W360R|CCNA1_ENST00000449823.1_Missense_Mutation_p.W360R|CCNA1_ENST00000255465.4_Missense_Mutation_p.W404R	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	404					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAAGCACTTTTGGGTAAGATT	0.398000													39	73					0	0	0.847076	0	0
MTL5	9633	broad.mit.edu	37	11	68480850	68480850	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:68480850G>A	ENST00000255087.5	-	8	1229	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	349					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCTGGAAAGCTTCTGGATT	0.468000													55	261					0	0	0.870114	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802982	24802982	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802982G>C	ENST00000395799.3	+	6	3148	c.3019G>C	c.(3019-3021)Gct>Cct	p.A1007P	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A1007P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1007	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGAACTTCAGCTTGGGGAGA	0.468000													24	55					0	0	0.654019	0	0
TESK2	10420	broad.mit.edu	37	1	45887455	45887455	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:45887455C>T	ENST00000372086.3	-	3	686	c.286G>A	c.(286-288)Gca>Aca	p.A96T	TESK2_ENST00000341771.6_Missense_Mutation_p.A96T|TESK2_ENST00000372084.1_Missense_Mutation_p.A96T|TESK2_ENST00000538496.1_Missense_Mutation_p.A13T|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000451835.2_Missense_Mutation_p.A96T	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	96	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AGCATGTTTGCCCGGTTACTG	0.423000													71	95					0	0	0.870114	0	0
MAML2	84441	broad.mit.edu	37	11	95826019	95826019	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:95826019G>A	ENST00000524717.1	-	2	2460	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	392					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGTTGGCCATGGAGAATGCGG	0.597000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								22	11					0	0	0.592651	0	0
VWA3B	200403	broad.mit.edu	37	2	98928738	98928738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:98928738C>T	ENST00000477737.1	+	28	4015	c.3811C>T	c.(3811-3813)Cga>Tga	p.R1271*	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1271										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCTCCACCTCGAGCAGCCCT	0.607000													21	76					0	0	0.608945	0	0
TGFBR1	7046	broad.mit.edu	37	9	101907133	101907133	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:101907133A>G	ENST00000374994.4	+	6	1210	c.1093A>G	c.(1093-1095)Att>Gtt	p.I365V	TGFBR1_ENST00000552516.1_Missense_Mutation_p.I369V|TGFBR1_ENST00000374990.2_Missense_Mutation_p.I288V|TGFBR1_ENST00000550253.1_Missense_Mutation_p.I296V	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	365	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CACAGATACCATTGATATTGC	0.348000													5	94					0	0	0.184627	0	0
LILRB5	0	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													4	40					0	0	0.184627	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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								27	36					0	0	0.717897	0	0
ZNF20	7568	broad.mit.edu	37	19	12244606	12244606	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:12244606G>A	ENST00000334213.5	-	4	619	c.395C>T	c.(394-396)tCa>tTa	p.S132L	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						ATACTCAGATGACTTGTGTCC	0.408000													59	231					0	0	0.870114	0	0
ACSS3	79611	broad.mit.edu	37	12	81647382	81647382	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:81647382C>T	ENST00000548058.1	+	15	2838	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L	ACSS3_ENST00000548324.1_Missense_Mutation_p.P325L|ACSS3_ENST00000261206.3_Missense_Mutation_p.P642L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	643						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAACAGCTACCCAAAACCAGA	0.428000													21	108					0	0	0.575678	0	0
HNRNPL	3191	broad.mit.edu	37	19	39328114	39328114	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:39328114G>A	ENST00000221419.5	-	12	1987	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	HNRNPL_ENST00000600873.1_Missense_Mutation_p.R408C|AC104534.3_ENST00000594769.1_Silent_p.S157S	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	541					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGAGCTGCGCTCACCTGAT	0.512000													42	78					0	0	0.840704	0	0
DPPA3	359787	broad.mit.edu	37	12	7864237	7864237	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:7864237G>A	ENST00000345088.2	+	1	188	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	24						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAAATTCCCGGGACGATTCA	0.458000													3	62					0	0	0.150653	0	0
ALDH1A3	220	broad.mit.edu	37	15	101447398	101447398	+	Missense_Mutation	SNP	G	G	A	rs145630728	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:101447398G>A	ENST00000329841.5	+	11	1838	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.D329N	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	436					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GAATAGCACCGACTATGGACT	0.438000													68	40					0	0	0.870114	0	0
LRRC32	2615	broad.mit.edu	37	11	76371899	76371899	+	Silent	SNP	G	G	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:76371899G>C	ENST00000407242.2	-	3	980	c.738C>G	c.(736-738)acC>acG	p.T246T	LRRC32_ENST00000260061.5_Silent_p.T246T|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.T246T|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	246						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTCAAGCCAGGTGAGCTGGA	0.617000													19	90					0	0	0.575678	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145171	56145171	+	Missense_Mutation	SNP	T	T	C	rs55849640	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:56145171T>C	ENST00000394555.2	-	4	581	c.146A>G	c.(145-147)gAc>gGc	p.D49G	EFEMP1_ENST00000355426.3_Missense_Mutation_p.D49G|EFEMP1_ENST00000394554.1_Missense_Mutation_p.D49G|EFEMP1_ENST00000424836.2_5'UTR	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	49	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGACAATGTCACATTCATC	0.373000													32	76					0	0	0.769981	0	0
TC2N	123036	broad.mit.edu	37	14	92268745	92268745	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr14:92268745C>T	ENST00000435962.2	-	4	645	c.322G>A	c.(322-324)Gga>Aga	p.G108R	TC2N_ENST00000556018.1_Missense_Mutation_p.G108R|TC2N_ENST00000340892.5_Missense_Mutation_p.G108R|TC2N_ENST00000360594.5_Missense_Mutation_p.G108R	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	108						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTCGATCTCCAAAAGATGCT	0.403000													15	61					0	0	0.457914	0	0
CHD5	26038	broad.mit.edu	37	1	6186737	6186737	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:6186737G>A	ENST00000262450.3	-	26	4072	c.3973C>T	c.(3973-3975)Cgg>Tgg	p.R1325W	CHD5_ENST00000378021.1_Missense_Mutation_p.R182W	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1325					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TAGTGGTGCCGCAGCAGCTTC	0.627000													15	57					0	0	0.520397	0	0
MAP7	9053	broad.mit.edu	37	6	136683671	136683671	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:136683671C>A	ENST00000354570.3	-	11	1853	c.1443G>T	c.(1441-1443)agG>agT	p.R481S	MAP7_ENST00000544465.1_Missense_Mutation_p.R466S|MAP7_ENST00000438100.2_Missense_Mutation_p.R466S|MAP7_ENST00000454590.1_Missense_Mutation_p.R503S|MAP7_ENST00000432797.2_Missense_Mutation_p.R335S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	481					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAGCTAGAAGCCTTGTGGCCT	0.567000													17	57					3.51602e-12	3.70607e-12	0.575678	1	0
TNRC6A	27327	broad.mit.edu	37	16	24802981	24802981	+	Silent	SNP	A	A	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802981A>C	ENST00000395799.3	+	6	3147	c.3018A>C	c.(3016-3018)tcA>tcC	p.S1006S	TNRC6A_ENST00000315183.7_Silent_p.S1006S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1006	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGGAACTTCAGCTTGGGGAG	0.473000													23	57					0	0	0.639603	0	0
C3orf18	51161	broad.mit.edu	37	3	50598380	50598380	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr3:50598380C>A	ENST00000357203.3	-	5	915	c.376G>T	c.(376-378)Gct>Tct	p.A126S	C3orf18_ENST00000441239.1_Missense_Mutation_p.A106S|C3orf18_ENST00000449241.1_Missense_Mutation_p.A126S|C3orf18_ENST00000426034.1_Missense_Mutation_p.A126S|C3orf18_ENST00000422619.1_Missense_Mutation_p.A74S|C3orf18_ENST00000486175.1_5'UTR	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	126						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GAAGTAGCAGCCTGTACAGAG	0.637000													24	56					3.28513e-13	3.51014e-13	0.667858	1	0
NACA	4666	broad.mit.edu	37	12	57110586	57110586	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:57110586G>A	ENST00000454682.1	-	3	5009	c.4728C>T	c.(4726-4728)tcC>tcT	p.S1576S	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGCCTCTTTGGAGGATGGGG	0.582000			T	BCL6	NHL								10	39					0	0	0.411799	0	0
MYCBP2	23077	broad.mit.edu	37	13	77714188	77714188	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:77714188A>C	ENST00000407578.2	-	51	7778	c.7512T>G	c.(7510-7512)atT>atG	p.I2504M	MYCBP2_ENST00000357337.6_Missense_Mutation_p.I2466M|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I2466M|MYCBP2_ENST00000360084.5_De_novo_Start_InFrame	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCTCATCAATAAAAGTGA	0.398000													4	78					0	0	0.184627	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073101	15073101	+	Silent	SNP	G	G	A	rs150916469	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:15073101G>A	ENST00000598504.1	-	8	2007	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SLC1A6_ENST00000221742.3_Silent_p.N216N|SLC1A6_ENST00000430939.2_Silent_p.N152N|SLC1A6_ENST00000600144.1_Silent_p.N216N|SLC1A6_ENST00000544886.2_Silent_p.N216N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	216					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTCAGACCCGTTCTCTGTCC	0.557000													41	139					0	0	0.870114	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	85					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			39	45					0	0	0.840704	0	0
MUC16	94025	broad.mit.edu	37	19	9082521	9082521	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:9082521C>A	ENST00000397910.4	-	1	9497	c.9294G>T	c.(9292-9294)caG>caT	p.Q3098H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3099	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAATGGTCTGGCTTGAGG	0.478000													44	248					3.40343e-31	3.73898e-31	0.870114	1	0
HECTD4	283450	broad.mit.edu	37	12	112674788	112674788	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:112674788G>A	ENST00000550722.1	-	35	5362	c.4967C>T	c.(4966-4968)gCg>gTg	p.A1656V	HECTD4_ENST00000430131.2_Missense_Mutation_p.A1380V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1630V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ATCCTGGAGCGCGTCATTCCC	0.572000													6	26					0	0	0.248553	0	0
COL4A3	1285	broad.mit.edu	37	2	228153927	228153927	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:228153927G>A	ENST00000396578.3	+	35	3105	c.2943G>A	c.(2941-2943)aaG>aaA	p.K981K	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	981	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGGTTTAAAGGGCCTCAAAG	0.423000													3	52					0	0	0.150653	0	0
DYX1C1	161582	broad.mit.edu	37	15	55742505	55742505	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:55742505C>T	ENST00000321149.3	-	6	1065	c.698G>A	c.(697-699)cGc>cAc	p.R233H	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.R233H|DYX1C1_ENST00000380679.1_Missense_Mutation_p.R233H|DYX1C1_ENST00000448430.2_Missense_Mutation_p.R233H|DYX1C1_ENST00000457155.2_Missense_Mutation_p.R233H	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	233					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCCAACAGAGCGAGGAGCAGG	0.378000													32	62					0	0	0.750413	0	0
CD44	960	broad.mit.edu	37	11	35231542	35231542	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:35231542C>T	ENST00000428726.2	+	13	1670	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S473L|CD44_ENST00000415148.2_Missense_Mutation_p.S473L|CD44_ENST00000437706.2_Missense_Mutation_p.S516L|CD44_ENST00000433892.2_Missense_Mutation_p.S267L|CD44_ENST00000433354.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	516	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TTCTCTACATCACATGAAGGC	0.388000													34	135					0	0	0.769981	0	0
C12orf66	144577	broad.mit.edu	37	12	64588283	64588283	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:64588283C>A	ENST00000311915.8	-	3	704	c.677G>T	c.(676-678)tGg>tTg	p.W226L	C12orf66_ENST00000544871.1_Missense_Mutation_p.W173L|C12orf66_ENST00000398055.3_Missense_Mutation_p.W226L			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	226										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GATCTGGCCCCACGTCTGCAG	0.537000													3	68					0.00909568	0.00933504	0.150653	1	0
DCTN1	1639	broad.mit.edu	37	2	74595916	74595916	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:74595916C>T	ENST00000361874.3	-	16	2110	c.1793G>A	c.(1792-1794)cGg>cAg	p.R598Q	DCTN1_ENST00000409868.1_Missense_Mutation_p.R581Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.R464Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.R561Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.R464Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.R591Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.R578Q	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	598					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCCACCTGGCCGAAGGAAGCT	0.532000													17	103					0	0	0.575678	0	0
NSFL1C	55968	broad.mit.edu	37	20	1426390	1426390	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr20:1426390C>T	ENST00000216879.4	-	8	1738	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	NSFL1C_ENST00000381658.4_Missense_Mutation_p.E180K|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.E260K|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E293K|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E293K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	291	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GGCTCTGATTCGTCGATTAAG	0.532000													17	257					0	0	0.557998	0	0
PRDM9	56979	broad.mit.edu	37	5	23527687	23527687	+	Silent	SNP	G	G	A			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:23527687G>A	ENST00000296682.3	+	11	2672	c.2490G>A	c.(2488-2490)aaG>aaA	p.K830K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	830					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGGGAGAAGCCCTATGTCT	0.587000										HNSCC(3;0.000094)			28	95					0	0	0.760397	0	0
KANK2	25959	broad.mit.edu	37	19	11303539	11303539	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:11303539C>T	ENST00000432929.2	-	4	1577	c.1217G>A	c.(1216-1218)aGc>aAc	p.S406N	KANK2_ENST00000355150.5_Missense_Mutation_p.S406N|KANK2_ENST00000586659.1_Missense_Mutation_p.S406N|KANK2_ENST00000589894.1_Missense_Mutation_p.S406N|KANK2_ENST00000589359.1_Missense_Mutation_p.S406N	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	406										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTGTGATGCTAATCTTCTT	0.612000													18	88					0	0	0.624587	0	0
RNF17	56163	broad.mit.edu	37	13	25425618	25425618	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:25425618C>T	ENST00000255324.5	+	24	3281	c.3229C>T	c.(3229-3231)Cct>Tct	p.P1077S	RNF17_ENST00000381921.1_Missense_Mutation_p.P1077S|RNF17_ENST00000339524.3_Missense_Mutation_p.P129S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1077					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATGGCCATTACCTGTGAAAAT	0.343000													11	60					0	0	0.361761	0	0
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													2	4	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136389572	136389575	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:136389572_136389575delGTAA	ENST00000264160.4	+	9	1068		c.e9+1		R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATACAAGAATGTAAGTGTCAAGAG	0.324													29	106	---	---	---	---					
SPOCK3	50859	broad.mit.edu	37	4	167810286	167810287	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:167810286_167810287delTT	ENST00000357154.3	-	7	729_730	c.592_593delAA	c.(592-594)gfs	p.K198fs	SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.K100fs|SPOCK3_ENST00000541354.1_Frame_Shift_Del_p.K78fs|SPOCK3_ENST00000535728.1_Frame_Shift_Del_p.K106fs|SPOCK3_ENST00000534949.1_Frame_Shift_Del_p.K102fs|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000421836.2_Frame_Shift_Del_p.K147fs|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.K100fs	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTACCTCTCTTAACATTTCTG	0.337													33	80	---	---	---	---					
RP11-122F24.1	0	broad.mit.edu	37	5	7045029	7045029	+	RNA	DEL	T	T	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:7045029delT	ENST00000512838.1	+	0	154																											tctttctttcttttttttttt	0.463													2	4	---	---	---	---					
GFPT2	9945	broad.mit.edu	37	5	179744060	179744061	+	Splice_Site	DEL	TG	TG	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:179744060_179744061delTG	ENST00000253778.8	-	11	1128		c.e11-2		GFPT2_ENST00000520165.1_Splice_Site	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAAGTTACCTGGTCAAATAAA	0.391													27	103	---	---	---	---					
ADAMTS14	140766	broad.mit.edu	37	10	72493665	72493665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr10:72493665delG	ENST00000373208.1	+	8	1242	c.1242delG	c.(1240-1242)cafs	p.Q414fs	ADAMTS14_ENST00000373207.1_Frame_Shift_Del_p.Q411fs	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	411	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGACGGTCAGGGGAATGGCT	0.652													19	93	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579694	7579699	+	Splice_Site	DEL	CCTTAC	CCTTAC	-			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7579694_7579699delCCTTAC	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		cAACCCTTGTCCTTACCAGAACGTTG	0.587		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)			8	46	---	---	---	---					
