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
SLC2A9	56606	broad.mit.edu	37	4	10027566	10027566	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:10027566C>T	ENST00000506583.1	-	3	242	c.25G>A	c.(25-27)Gga>Aga	p.G9R	SLC2A9_ENST00000309065.3_Missense_Mutation_p.G9R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCATCTTCTCCTCGGTCCTTT	0.388000													23	81					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852495	40852495	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:40852495G>A	ENST00000254691.5	+	3	1260	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	354					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GATGAAGATAGCAAGGAGGAT	0.463000													10	17					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647929	53647929	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr12:53647929G>A	ENST00000534842.1	+	2	1778	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	MFSD5_ENST00000329548.4_Missense_Mutation_p.R437Q	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	437					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GCTGAGCTGCGGGTACCTTCA	0.547000													3	60					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304314	115304314	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:115304314G>C	ENST00000371906.4	+	3	971	c.781G>C	c.(781-783)Gtt>Ctt	p.V261L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	261					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GGCAGCTGCTGTTGTTCTGGC	0.463000													27	55					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696777	109696777	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:109696777C>T	ENST00000465301.2	+	3	3178	c.2932C>T	c.(2932-2934)Ccg>Tcg	p.P978S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P978S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	978										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGTCTATGCCGCTAATGGA	0.502000													4	186					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518984	113518984	+	Silent	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:113518984A>G	ENST00000284601.3	-	4	2231	c.2163T>C	c.(2161-2163)atT>atC	p.I721I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	721					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTCTCAGTAATGCCATGAT	0.388000													44	91					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918151	50918151	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:50918151G>A	ENST00000440232.2	+	20	2521	c.2468G>A	c.(2467-2469)cGc>cAc	p.R823H	POLD1_ENST00000595904.1_Missense_Mutation_p.R849H|POLD1_ENST00000599857.1_Missense_Mutation_p.R823H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	823					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCACGACCGCATGGACTGC	0.662000								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436010	158436010	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:158436010G>A	ENST00000289451.2	+	1	739	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTACATCCGCATCATCTCT	0.478000													10	61					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49513785	49513785	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:49513785G>A	ENST00000413176.2	+	9	1717	c.569G>A	c.(568-570)cGc>cAc	p.R190H	RUVBL2_ENST00000601968.1_Missense_Mutation_p.R190H|RUVBL2_ENST00000595090.1_Missense_Mutation_p.R235H			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	235					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTCCAGAAACGCAAGGAGGTG	0.647000													5	90					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													3	16					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123375992	123375992	+	Silent	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:123375992C>T	ENST00000360772.3	-	25	4647	c.4269G>A	c.(4267-4269)acG>acA	p.T1423T	MYLK_ENST00000360304.3_Silent_p.T1423T|MYLK_ENST00000359169.1_Silent_p.T1423T|MYLK_ENST00000346322.5_Silent_p.T1354T|MYLK_ENST00000354792.5_Silent_p.T223T|MYLK_ENST00000475616.1_Silent_p.T1423T			Q15746	MYLK_HUMAN	myosin light chain kinase	1423	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCTCCTACCGTTGTGAGTT	0.493000													22	58					0	0	1	0	0
SUZ12P	0	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													5	167					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553674	19553674	+	Silent	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:19553674C>T	ENST00000409832.3	+	1	310	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	86										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGACCACGACGACTCTG	0.602000													11	548					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135313000	135313000	+	Silent	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:135313000A>G	ENST00000316077.9	-	9	1759	c.1539T>C	c.(1537-1539)acT>acC	p.T513T	MAP7D3_ENST00000370663.5_Silent_p.T495T|MAP7D3_ENST00000370661.1_Silent_p.T478T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	513						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTGCTTACTTAGTGCTGATGG	0.393000													15	57					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	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								25	66					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40137623	40137623	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:40137623C>T	ENST00000235628.1	-	1	87	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	30					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAAATCTTGGCTTCCTCCCAG	0.662000													15	74					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:38892224C>T	ENST00000450244.1	-	25	4273	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M|SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000302328.3_Missense_Mutation_p.V1359M			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1359					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCGAACACGAGACCTTGA	0.308000													11	34					0	0	1	0	0
TAPT1	202018	broad.mit.edu	37	4	16215462	16215462	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:16215462T>G	ENST00000405303.2	-	2	342	c.259A>C	c.(259-261)Aat>Cat	p.N87H	TAPT1_ENST00000399920.3_Intron|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	87						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTGGCCTCATTATGTTCAAGG	0.353000													5	43					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900741	51900741	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:51900741T>G	ENST00000268919.4	+	1	503	c.347T>G	c.(346-348)gTt>gGt	p.V116G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	116					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGAAATGGGTTGCGATGATC	0.602000													28	63					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91978676	91978676	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:91978676A>C	ENST00000428239.1	+	7	893	c.634A>C	c.(634-636)Aaa>Caa	p.K212Q	CDC7_ENST00000430031.2_Missense_Mutation_p.K184Q|CDC7_ENST00000234626.6_Missense_Mutation_p.K212Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	212	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGAGCTTCTTAAATTTGTCCA	0.408000													4	52					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													5	98					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52521388	52521388	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr15:52521388T>C	ENST00000261839.7	-	25	3310	c.3149A>G	c.(3148-3150)gAg>gGg	p.E1050G		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1050						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGTGACGTGCTCCCCCTCCAC	0.522000													4	169					0	0	1	0	0
EEF1DP3	0	broad.mit.edu	37	13	32526951	32526951	+	RNA	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr13:32526951G>A	ENST00000428783.1	+	0	651																											CAGCGAGCTCGTCGTCCGGAT	0.642000													3	7					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79846748	79846748	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:79846748T>C	ENST00000351004.3	+	8	1377	c.1004T>C	c.(1003-1005)gTt>gCt	p.V335A	GNAI1_ENST00000457358.2_Missense_Mutation_p.V283A	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	335					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTGCAGTTTGTTTTTGATGCT	0.318000													4	65					0	0	1	0	0
NABP2	79035	broad.mit.edu	37	12	56622879	56622879	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr12:56622879A>C	ENST00000380198.2	+	6	1016	c.518A>C	c.(517-519)cAc>cCc	p.H173P	NABP2_ENST00000341463.5_Missense_Mutation_p.H173P|NABP2_ENST00000267023.4_Missense_Mutation_p.H173P					nucleic acid binding protein 2																		ACTCCCTCCCACCCACCCAGC	0.612000													7	15					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													4	87					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362427	105362427	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr10:105362427C>T	ENST00000369774.4	-	15	2824	c.2548G>A	c.(2548-2550)Gcc>Acc	p.A850T	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A717T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A685T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A822T|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	850	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCTGGTAGGCGCTGCATGTC	0.617000													16	33					0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	408721	408721	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr11:408721G>A	ENST00000431843.2	-	3	486	c.180C>T	c.(178-180)ggC>ggT	p.G60G	SIGIRR_ENST00000531205.1_Silent_p.G60G|SIGIRR_ENST00000382520.2_Silent_p.G60G|SIGIRR_ENST00000332725.3_Silent_p.G60G|SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000397632.3_Silent_p.G60G	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	60	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGTAGTGGCCCCCAATTC	0.597000													71	112					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138618038	138618038	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:138618038G>A	ENST00000251691.4	+	21	3760	c.3594G>A	c.(3592-3594)cgG>cgA	p.R1198R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1198					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCAAAGCACGGCCCCTGCTCC	0.587000													5	95					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019963	20019963	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:20019963G>A	ENST00000551509.1	-	1	309	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	86										endometrium(4)|kidney(1)|lung(4)	9						CAGAGTCGTCGTGGTCTCCAG	0.612000													30	430					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						45	88					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159437647	159437647	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:159437647A>G	ENST00000231238.5	+	2	222	c.112A>G	c.(112-114)Aat>Gat	p.N38D	TTC1_ENST00000522793.1_Missense_Mutation_p.N38D	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	38					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGATCCCAAAAATCAGCATTC	0.507000													3	22					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100789764	100789764	+	Missense_Mutation	SNP	G	G	A	rs144140477		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:100789764G>A	ENST00000361529.3	+	1	91	c.13G>A	c.(13-15)Gct>Act	p.A5T	SLC25A47_ENST00000557052.1_De_novo_Start_InFrame	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	5					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGATTTTGTCGCTGGAGCCAT	0.632000													13	20					0	0	1	0	0
TM2D1	83941	broad.mit.edu	37	1	62189460	62189461	+	Splice_Site	INS	-	-	A	rs147863719		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:62189460_62189461insA	ENST00000371177.2	-	2	177		c.e2-2		TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000606498.1_Intron|TM2D1_ENST00000371180.2_Splice_Site			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CAAATATATGTAAAAAAAAAAG	0.302													2	4	---	---	---	---					
AC105402.4	0	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577127	7577132	+	In_Frame_Del	DEL	CAAAGC	CAAAGC	-	rs67389650		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:7577127_7577132delCAAAGC	ENST00000420246.2	-	8	938_943	c.806_811delGCTTTG	c.(805-813)aag>a	p.SFE269del	TP53_ENST00000455263.2_In_Frame_Del_p.SFE269del|TP53_ENST00000269305.4_In_Frame_Del_p.SFE269del|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.SFE269del|TP53_ENST00000445888.2_In_Frame_Del_p.SFE269del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	269	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; 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.E271K(28)|p.F270L(24)|p.E271*(18)|p.F270C(15)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.S269N(4)|p.S269S(3)|p.G262_F270delGNLLGRNSF(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.G266_E271delGRNSFE(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269_F270insX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.S269fs*3(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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)		ACACGCACCTCAAAGCTGTTCCGTCC	0.539		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	13	---	---	---	---