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
FGG	2266	broad.mit.edu	37	4	155530846	155530846	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:155530846T>A	ENST00000404648.3	-	6	841	c.602A>T	c.(601-603)aAc>aTc	p.N201I	FGG_ENST00000407946.1_Missense_Mutation_p.N209I|FGG_ENST00000336098.3_Missense_Mutation_p.N201I|FGG_ENST00000405164.1_Missense_Mutation_p.N209I	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	201	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAATTGCTGGTTAGCTTTCAG	0.388000													42	50					0	0	1	0	0
TEKT4P2	0	broad.mit.edu	37	21	9907312	9907312	+	RNA	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr21:9907312G>A	ENST00000416067.1	-	0	1480					NR_037872.1|NR_038327.1																						CACTTCTGGCGGTCGATGAAG	0.582000													8	40					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135048807	135048807	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:135048807A>G	ENST00000541284.1	-	11	1969	c.1639T>C	c.(1639-1641)Tct>Cct	p.S547P	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.S544P|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000473470.1_5'UTR	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	227					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTCTCTACAGAACTGCTGTTG	0.388000													44	108					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108012060	108012060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:108012060G>A	ENST00000280758.5	+	10	2885	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	BTBD11_ENST00000490090.2_Missense_Mutation_p.R786H|BTBD11_ENST00000357167.4_Missense_Mutation_p.R323H|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	786						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCGCCAGCCGCAACAGCAAG	0.597000													24	60					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442617	114442617	+	Silent	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr1:114442617G>A	ENST00000369569.1	-	5	1303	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	AP4B1_ENST00000256658.4_Silent_p.N341N|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.N173N|AP4B1_ENST00000369566.3_Silent_p.N248N	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	341					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCTCATCGTTCACCAGTT	0.507000													5	439					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258824	2258824	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr16:2258824C>T	ENST00000569417.1	+	9	1281	c.927C>T	c.(925-927)ggC>ggT	p.G309G	MLST8_ENST00000565250.1_Silent_p.G309G|MLST8_ENST00000397124.1_Silent_p.G309G|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000382450.4_Silent_p.G308G|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Silent_p.G309G	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	309					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GAGAGTATGGCGGCCACCAGA	0.622000													5	345					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33679635	33679635	+	Missense_Mutation	SNP	C	C	T	rs147085136	byFrequency	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:33679635C>T	ENST00000394566.1	-	7	2718	c.2446G>A	c.(2446-2448)Gca>Aca	p.A816T	SLFN11_ENST00000308377.4_Missense_Mutation_p.A816T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	816						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTTCTTTTGCGGTGCTGACA	0.473000													4	82					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938407	76938407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:76938407G>A	ENST00000373344.5	-	9	2555	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R743*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	781					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)	GAACTTTTTCGTTTCCTTTTT	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						43	13					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94940783	94940783	+	Silent	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:94940783G>T	ENST00000222381.3	-	5	708	c.477C>A	c.(475-477)atC>atA	p.I159I	PON1_ENST00000542556.1_Silent_p.I159I	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	159					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GTTTATGTCTGATGGTTTTTA	0.383000													31	51					5.77227e-19	6.39969e-19	1	1	0
EVL	51466	broad.mit.edu	37	14	100551166	100551166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:100551166G>A	ENST00000544450.2	+	2	449	c.166G>A	c.(166-168)Gtt>Att	p.V56I	EVL_ENST00000555048.1_3'UTR|EVL_ENST00000392920.3_Missense_Mutation_p.V52I|EVL_ENST00000402714.2_Missense_Mutation_p.V50I			Q9UI08	EVL_HUMAN	Enah/Vasp-like	50	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTTCAGAGTCGTTGGAGTCAA	0.532000													42	45					0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504345	56504345	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:56504345C>T	ENST00000303305.6	+	9	1130	c.711C>T	c.(709-711)gcC>gcT	p.A237A	PA2G4_ENST00000552766.1_Silent_p.A237A|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	237					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TCTTTCAGGCCAAGGATGCAG	0.463000													32	41					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954579	35954579	+	Splice_Site	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:35954579A>G	ENST00000274278.3	-	7	1654	c.1295_splice	c.e7-1	p.Y433_splice		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	433						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCGACTTGTACCTGTTGGCG	0.552000													6	45					0	0	1	0	0
GABRB2	0	broad.mit.edu	37	5	160758095	160758095	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:160758095T>C	ENST00000274547.2	-	9	1089	c.872A>G	c.(871-873)cAc>cGc	p.H291R	GABRB2_ENST00000517901.1_Missense_Mutation_p.H228R|GABRB2_ENST00000517547.1_Missense_Mutation_p.H131R|GABRB2_ENST00000393959.1_Missense_Mutation_p.H291R|GABRB2_ENST00000520240.1_Missense_Mutation_p.H291R|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291R	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	291					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTCCCGGAGGTGGGTGTTGAT	0.423000													18	112					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3656701	3656701	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:3656701C>T	ENST00000263087.4	-	14	1649	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	517					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGGGCACAGCTCAGAGCCAA	0.582000													11	75					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	rs145943944	byFrequency	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr10:28378749C>T	ENST00000337532.5	-	13	1250	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313000													10	37					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131848943	131848943	+	Silent	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:131848943G>A	ENST00000359827.3	-	24	5420	c.4458C>T	c.(4456-4458)agC>agT	p.S1486S	PLXNA4_ENST00000321063.4_Silent_p.S1486S			Q9HCM2	PLXA4_HUMAN	plexin A4	1486						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTGTCCTCGCTCAAGGAGT	0.607000													10	62					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28273113	28273113	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28273113A>T	ENST00000354638.3	-	4	574	c.419T>A	c.(418-420)cTa>cAa	p.L140Q	OCA2_ENST00000382996.2_Missense_Mutation_p.L140Q|OCA2_ENST00000353809.5_Missense_Mutation_p.L140Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	140					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTCCCTGCTTAGCAGGTATCT	0.552000									Oculocutaneous Albinism				13	142					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91437242	91437242	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:91437242C>T	ENST00000328850.3	+	18	2422	c.2280C>T	c.(2278-2280)ccC>ccT	p.P760P	FES_ENST00000450438.2_Silent_p.P632P|FES_ENST00000394300.3_Silent_p.P702P|FES_ENST00000394302.1_Silent_p.P619P|FES_ENST00000444422.2_Silent_p.P690P|FES_ENST00000414248.2_Silent_p.P632P	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	760	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCCTCCCCCTATCCCAACC	0.607000													175	285					0	0	1	0	0
TEDDM1	127670	broad.mit.edu	37	1	182369470	182369470	+	Missense_Mutation	SNP	C	C	T	rs139831889		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr1:182369470C>T	ENST00000367565.1	-	1	281	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	51						integral to membrane		p.G51W(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AGCACCATCCCGCCATCAAGA	0.478000													4	92					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826102	117826102	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr9:117826102T>A	ENST00000350763.4	-	12	4144	c.3733A>T	c.(3733-3735)Acc>Tcc	p.T1245S	TNC_ENST00000423613.2_Missense_Mutation_p.T1245S|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.T1245S|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1245	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGAGAGGGGTTGTGCTGAAG	0.522000													20	98					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25833094	25833094	+	Nonsense_Mutation	SNP	C	C	T	rs147184138		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr3:25833094C>T	ENST00000280701.3	+	2	682	c.583C>T	c.(583-585)Cga>Tga	p.R195*	OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Nonsense_Mutation_p.R195*	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	195					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGTCAGCATTCGATATAAACT	0.433000													11	68					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10551310	10551310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr16:10551310G>T	ENST00000396560.2	+	7	1503	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTGAATTATGAGCCTTCTAA	0.323000													12	106					2.80697e-09	3.04587e-09	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	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								18	40					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175080	143175080	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:143175080G>T	ENST00000408916.1	+	1	115	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	39					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCTGCGATATGGCAGGTTGCT	0.562000													7	119					0.00198382	0.00206479	1	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106083910	106083910	+	Silent	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:106083910T>C	ENST00000357242.5	+	10	1689	c.1515T>C	c.(1513-1515)aaT>aaC	p.N505N	TBC1D8B_ENST00000310452.2_Silent_p.N505N|TBC1D8B_ENST00000276175.3_Silent_p.N499N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	505	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGTTAATGACATGGCTA	0.358000													25	27					0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23678418	23678418	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr16:23678418G>A	ENST00000300087.2	+	6	653	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	DCTN5_ENST00000563998.1_3'UTR	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	168						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GATGATTGACGTCACCAAGAG	0.507000													4	80					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107398758	107398758	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:107398758A>G	ENST00000440859.2	+	6	1078	c.611A>G	c.(610-612)aAt>aGt	p.N204S	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.N203S	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	204					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TCACTTGAAAATGTTCATCCT	0.468000													85	118					0	0	1	0	0
RP3-522P13.3	0	broad.mit.edu	37	6	25261508	25261508	+	RNA	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr6:25261508G>A	ENST00000413898.2	-	0	131																											CTGGATATATGTTCTCTAGGC	0.403000													7	11					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28473408	28473408	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28473408T>C	ENST00000261609.7	-	35	5528	c.5420A>G	c.(5419-5421)aAt>aGt	p.N1807S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1807					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGCCGGAATTGAGCAGAAG	0.592000													6	62					0	0	1	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308000													22	7					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			36	6					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922533	43922533	+	Silent	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:43922533G>T	ENST00000329196.5	+	1	278	c.261G>T	c.(259-261)cgG>cgT	p.R87R	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	87						integral to membrane	aspartic-type endopeptidase activity										CCAGCCAGCGGCCCCTCCGCC	0.682000													13	69					0.00244969	0.00249869	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17313045	17313045	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr19:17313045A>C	ENST00000595618.1	+	28	4921	c.4769A>C	c.(4768-4770)aAc>aCc	p.N1590T	MYO9B_ENST00000594824.1_Missense_Mutation_p.N1590T|MYO9B_ENST00000397274.2_Missense_Mutation_p.N1590T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1590	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGGTCCTCAACCTCTTCCAG	0.572000													3	22					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493000													4	138					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	36					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9784116	9784116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:9784116C>T	ENST00000304374.2	+	1	859	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	155					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GATGACTCAGCGCATGGCCTT	0.607000													5	51					0	0	1	0	0
MRPS26	64949	broad.mit.edu	37	20	3027057	3027057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr20:3027057A>G	ENST00000380325.3	+	2	375	c.251A>G	c.(250-252)gAg>gGg	p.E84G		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	84					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						AAGGTGCACGAGGCCCGAGCC	0.701000													11	26					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47389358	47389358	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:47389358C>A	ENST00000426342.1	-	10	1947	c.1201G>T	c.(1201-1203)Gcc>Tcc	p.A401S	MDGA2_ENST00000439988.2_Missense_Mutation_p.A630S|MDGA2_ENST00000399232.2_Missense_Mutation_p.A699S|MDGA2_ENST00000357362.3_Missense_Mutation_p.A401S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	630	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGAGCATAGGCCTTTCCTGAA	0.368000													7	52					8.12818e-05	8.6362e-05	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	12					0.00909568	0.00909568	1	1	0
TAF2	6873	broad.mit.edu	37	8	120768315	120768315	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr8:120768315T>G	ENST00000378164.2	-	22	3107	c.2809A>C	c.(2809-2811)Act>Cct	p.T937P	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	937					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGTTCTTAGTAAATGGTGGG	0.348000													6	57					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79818476	79818476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:79818476A>G	ENST00000351004.3	+	3	605	c.232A>G	c.(232-234)Atc>Gtc	p.I78V	GNAI1_ENST00000457358.2_Missense_Mutation_p.I26V|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	78					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						CAGTAACACCATCCAGTCAAT	0.398000													6	22					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2394836	2394836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:2394836delG	ENST00000360876.4	+	1	336	c.280delG	c.(280-282)ggfs	p.G94fs	EIF3B_ENST00000397011.2_Frame_Shift_Del_p.G94fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	94					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGAGCTGCCCGGGTCGCATGC	0.786													2	4	---	---	---	---					
RP11-114H24.4	0	broad.mit.edu	37	15	78234382	78234382	+	RNA	DEL	T	T	-			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:78234382delT	ENST00000568184.1	-	0	460																											TGGCGGGGGGTGGGGGGTGGG	0.612													2	4	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													15	11	---	---	---	---					
