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
PSG7	5676	broad.mit.edu	37	19	43439742	43439742	+	RNA	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:43439742A>G	ENST00000406070.2	-	0	340				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCTACTATATATGATGTAACA	0.418000													23	446					0	0	0.001882	0	0
CHAD	1101	broad.mit.edu	37	17	48543081	48543081	+	Missense_Mutation	SNP	G	G	A	rs138200891		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:48543081G>A	ENST00000508540.1	-	2	1077	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R309W|ACSF2_ENST00000427954.2_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	309	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGAAGGCCCCGGAGCTGGCAG	0.562000													4	196					0	0	0.000602	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	128					0	0	0.000602	0	0
SCN10A	6336	broad.mit.edu	37	3	38793869	38793869	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr3:38793869G>T	ENST00000449082.2	-	11	1595	c.1596C>A	c.(1594-1596)agC>agA	p.S532R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	532					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCCCGATGGCTTTCGTGGT	0.602000													7	82					0.00198382	0.00261029	0.001984	1	0
MT1JP	0	broad.mit.edu	37	16	56670367	56670367	+	RNA	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr16:56670367C>T	ENST00000564564.1	+	0	693																											CCTGCACGTGCGCCGGCTCCT	0.572000													29	69					0	0	0.007291	0	0
NOS3	4846	broad.mit.edu	37	7	150693876	150693876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr7:150693876C>T	ENST00000297494.3	+	5	802	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NOS3_ENST00000484524.1_Missense_Mutation_p.R149W|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000467517.1_Missense_Mutation_p.R149W	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	149	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R149R(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCACGAACAGCGGCTTCAAGA	0.657000													6	23					0	0	0.006214	0	0
FAM178A	0	broad.mit.edu	37	10	102683830	102683830	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr10:102683830G>C	ENST00000238961.3	+	5	1220	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	358																	AAAAGCAAGAGAGTCCTTCCT	0.398000													5	46					0	0	0.001168	0	0
SZT2	23334	broad.mit.edu	37	1	43912025	43912025	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:43912025T>C	ENST00000562955.1	+	64	8839	c.8839T>C	c.(8839-8841)Tgt>Cgt	p.C2947R	SZT2_ENST00000372442.1_Missense_Mutation_p.C2105R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3004						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGTTACTTCTGTGTCAAACA	0.552000													4	102					0	0	0.000602	0	0
PGM1	5236	broad.mit.edu	37	1	64100510	64100510	+	Silent	SNP	G	G	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:64100510G>A	ENST00000371083.4	+	5	1115	c.747G>A	c.(745-747)ccG>ccA	p.P249P	PGM1_ENST00000540265.1_Silent_p.P34P|PGM1_ENST00000371084.3_Silent_p.P231P	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	231					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGTGGGACCGTATGTAAAGA	0.473000													4	144					0	0	0.000248	0	0
EIF4G3	8672	broad.mit.edu	37	1	21133862	21133862	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:21133862C>T	ENST00000602326.1	-	35	5309	c.4726G>A	c.(4726-4728)Gca>Aca	p.A1576T	EIF4G3_ENST00000374937.3_Missense_Mutation_p.A1576T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A1060T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A1174T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A1570T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A1570T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A1290T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1570	EIF4A-binding (By similarity).|Necessary but not sufficient for MKNK1- binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTGAAGAATGCCGTGACAGAT	0.453000													5	326					0	0	0.000602	0	0
ATP5B	506	broad.mit.edu	37	12	57036472	57036472	+	Silent	SNP	G	G	C			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:57036472G>C	ENST00000262030.3	-	6	986	c.936C>G	c.(934-936)acC>acG	p.T312T	ATP5B_ENST00000552919.1_Intron|ATP5B_ENST00000550162.1_5'UTR	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	312					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACCAGCCTGGGTGAAGCGAA	0.483000													25	67					0	0	0.006320	0	0
UNC93A	54346	broad.mit.edu	37	6	167717405	167717405	+	Splice_Site	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr6:167717405A>G	ENST00000230256.3	+	5	800		c.e5-1		UNC93A_ENST00000366829.2_Splice_Site	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)							integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGTCCTTTCAGGGAGTGGTG	0.537000													27	105					0	0	0.002836	0	0
PCDHGB1	0	broad.mit.edu	37	5	140730818	140730818	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr5:140730818A>G	ENST00000523390.1	+	1	991	c.991A>G	c.(991-993)Ata>Gta	p.I331V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGTTCAAATAGAAATTGT	0.428000													6	76					0	0	0.001984	0	0
PATZ1	23598	broad.mit.edu	37	22	31740738	31740738	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr22:31740738C>T	ENST00000266269.5	-	1	1480	c.851G>A	c.(850-852)gGg>gAg	p.G284E	PATZ1_ENST00000405309.3_Missense_Mutation_p.G284E|PATZ1_ENST00000351933.4_Missense_Mutation_p.G284E|PATZ1_ENST00000215919.3_Missense_Mutation_p.G284E	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	284					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCTCAGGCCCCCTGGGGACCC	0.652000													6	18					0	0	0.003080	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929626	94929626	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr14:94929626T>A	ENST00000337425.5	-	5	1186	c.1112A>T	c.(1111-1113)cAc>cTc	p.H371L	SERPINA9_ENST00000298845.7_Missense_Mutation_p.H271L|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000448305.2_Missense_Mutation_p.H273L|SERPINA9_ENST00000424550.2_Missense_Mutation_p.H222L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.H353L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	353				T -> A (in Ref. 1; AAO65242).	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACAGCCTTGTGGGTTGCCTG	0.502000													14	75					0	0	0.003163	0	0
KMT2A	4297	broad.mit.edu	37	11	118344301	118344301	+	Silent	SNP	T	T	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr11:118344301T>A	ENST00000534358.1	+	3	2450	c.2427T>A	c.(2425-2427)tcT>tcA	p.S809S	KMT2A_ENST00000354520.4_Silent_p.S809S|KMT2A_ENST00000389506.5_Silent_p.S809S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTGGGGAATCTGCAGAGAAAA	0.468000													7	167					0	0	0.003080	0	0
KRT8	3856	broad.mit.edu	37	12	53293635	53293635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:53293635C>T	ENST00000552551.1	-	6	1337	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KRT8_ENST00000552150.1_Missense_Mutation_p.R330H|KRT8_ENST00000546897.1_Missense_Mutation_p.R302H|KRT8_ENST00000293308.6_Missense_Mutation_p.R302H			P05787	K2C8_HUMAN	keratin 8	302	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTTTGTGCGCCGCAGGTC	0.602000													30	35					0	0	0.007291	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								38	45					0	0	0.002522	0	0
SLC5A8	160728	broad.mit.edu	37	12	101577979	101577979	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:101577979C>A	ENST00000536262.2	-	8	1543	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	329					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.D329N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCAGAATGTCCAGTACCAAA	0.348000													9	48					0.000442599	0.000598107	0.006214	1	0
CD200	4345	broad.mit.edu	37	3	112064083	112064083	+	Silent	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr3:112064083C>T	ENST00000315711.8	+	3	426	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD200_ENST00000473539.1_Silent_p.F148F|CD200_ENST00000383681.3_Silent_p.F49F	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	123	Ig-like V-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGTGTCTCTTCAATACCTTTG	0.443000													4	125					0	0	0.000248	0	0
UCP3	7352	broad.mit.edu	37	11	73714925	73714925	+	Silent	SNP	G	G	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr11:73714925G>A	ENST00000314032.4	-	6	1323	c.771C>T	c.(769-771)ctC>ctT	p.L257L	UCP3_ENST00000426995.2_Silent_p.L257L|UCP3_ENST00000348534.4_Silent_p.L155L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	257					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATACAGTCGAGGGGGCTGA	0.617000													8	194					0	0	0.004482	0	0
GIGYF2	26058	broad.mit.edu	37	2	233655736	233655736	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:233655736A>G	ENST00000373566.3	+	12	1212	c.1015A>G	c.(1015-1017)Att>Gtt	p.I339V	GIGYF2_ENST00000452341.2_Missense_Mutation_p.I148V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I317V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I311V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I317V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I339V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I339V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	317					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAAGAGCCTATTCCAGAAGA	0.443000													3	92					0	0	0.004672	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492966	21492966	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr20:21492966C>G	ENST00000377142.4	-	2	773	c.417G>C	c.(415-417)caG>caC	p.Q139H		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	139					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTCGTAGGTCTGCGCCTTGG	0.692000													16	26					0	0	0.006122	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628865	51628865	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:51628865A>T	ENST00000440804.3	+	2	500	c.433A>T	c.(433-435)Agg>Tgg	p.R145W	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R145W	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	145					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTTGACCCACAGGCCCAACAT	0.642000													5	221					0	0	0.001168	0	0
GPR31	2853	broad.mit.edu	37	6	167570606	167570606	+	Silent	SNP	G	G	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr6:167570606G>A	ENST00000366834.1	-	1	1211	c.714C>T	c.(712-714)tgC>tgT	p.C238C		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	238						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCCAGGAAGCAGGGCAGAA	0.592000													11	118					0	0	0.000978	0	0
MUC17	140453	broad.mit.edu	37	7	100681682	100681682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr7:100681682C>T	ENST00000306151.4	+	3	7049	c.6985C>T	c.(6985-6987)Cca>Tca	p.P2329S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2329	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.478000													6	586					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9046747	9046747	+	Silent	SNP	T	T	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:9046747T>A	ENST00000397910.4	-	5	35087	c.34884A>T	c.(34882-34884)ccA>ccT	p.P11628P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11630	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						TCACTACCCCTGGTATACTGG	0.512000													16	147					0	0	0.004990	0	0
COL6A1	1291	broad.mit.edu	37	21	47409674	47409674	+	Silent	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637000													3	109					0	0	0.004672	0	0
KIT	3815	broad.mit.edu	37	4	55561801	55561801	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr4:55561801T>G	ENST00000288135.5	+	2	288	c.191T>G	c.(190-192)gTc>gGc	p.V64G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	64	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGCTTTGTCAAATGGACT	0.493000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				4	78					0	0	0.000248	0	0
DCST1	149095	broad.mit.edu	37	1	155013046	155013046	+	Silent	SNP	C	C	T	rs141235792		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:155013046C>T	ENST00000295542.1	+	6	573	c.477C>T	c.(475-477)cgC>cgT	p.R159R	DCST1_ENST00000392480.1_Silent_p.R159R|DCST1_ENST00000368419.2_Silent_p.R159R|DCST1_ENST00000423025.2_Silent_p.R134R	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	159						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACAACACCCGCGCAGCTTGGC	0.617000													4	9					0	0	0.000248	0	0
ATRX	546	broad.mit.edu	37	X	76845411	76845411	+	Splice_Site	SNP	C	C	T			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chrX:76845411C>T	ENST00000373344.5	-	27	6325		c.e27-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	GAAAACAAGGCTAAAAAAACA	0.323000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						23	6					0	0	0.001882	0	0
SEMA4F	10505	broad.mit.edu	37	2	74901749	74901749	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:74901749G>A	ENST00000357877.2	+	8	1096	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R161Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	316	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCTGTGCTTCGACCTGAGCTT	0.562000													21	224					0	0	0.001882	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523837	95523837	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr8:95523837A>G	ENST00000297591.5	-	13	3041	c.2966T>C	c.(2965-2967)cTc>cCc	p.L989P	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L989P|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L989P	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	989					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTGACATGGAGCCTCCAAGG	0.428000													3	111					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			33	4					0	0	0.002096	0	0
KMT2C	58508	broad.mit.edu	37	7	151842271	151842271	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr7:151842271T>G	ENST00000355193.2	-	55	14530	c.14312A>C	c.(14311-14313)aAa>aCa	p.K4771T	KMT2C_ENST00000262189.6_Missense_Mutation_p.K4714T					lysine (K)-specific methyltransferase 2C																		GGCACTCATTTTAGGTTCAGA	0.448000													16	117					0	0	0.004990	0	0
ARID1A	8289	broad.mit.edu	37	1	27057936	27057937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:27057936_27057937insC	ENST00000324856.7	+	3	2015_2016	c.1644_1645insC	c.(1642-1647)caccccfs	p.HP548fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.HP165fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.HP548fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	548					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y551fs*72(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAGAGCCAGCCCCCCTACTC	0.649			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								23	431	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													7	13	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													5	4	---	---	---	---					
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.441_splice	c.e4+1	p.L149_splice	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.L149_splice	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	149	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								7	202	---	---	---	---					
