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
DBF4	10926	broad.mit.edu	37	7	87537388	87537388	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:87537388T>A	ENST00000265728.1	+	12	2439	c.1935T>A	c.(1933-1935)aaT>aaA	p.N645K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	645					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTATATGCAATGTTTTAGATA	0.348000													6	110					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30408409	30408409	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr22:30408409C>G	ENST00000333027.3	+	13	1502	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	MTMR3_ENST00000406629.1_Missense_Mutation_p.L392V|MTMR3_ENST00000401950.2_Missense_Mutation_p.L392V|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.L392V|MTMR3_ENST00000323630.5_Missense_Mutation_p.L256V	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	392	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTCTGTGCTTCTGAAATCAGC	0.473000													10	314					0	0	1	0	0
TMEM252	169693	broad.mit.edu	37	9	71155571	71155571	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr9:71155571G>C	ENST00000377311.3	-	1	212	c.160C>G	c.(160-162)Ctt>Gtt	p.L54V		NM_153237.1	NP_694969.1			transmembrane protein 252																		CCACTCAGAAGGATCACAAAC	0.552000													4	55					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164758883	164758883	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr3:164758883C>T	ENST00000264382.3	-	18	2067		c.e18-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GATCCTGATGCTGTGAGATAG	0.318000										HNSCC(35;0.089)			8	110					0	0	1	0	0
POMZP3	22932	broad.mit.edu	37	7	76254844	76254844	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:76254844T>G	ENST00000310842.4	-	3	906	c.222A>C	c.(220-222)aaA>aaC	p.K74N	UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Missense_Mutation_p.K74N	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	74										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				GTTACCTTCTTTTATTTTCCT	0.463000													11	358					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715068	40715068	+	Silent	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:40715068C>T	ENST00000253055.3	+	6	1782	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	498					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAAAGGATCCGATGGGGCCA	0.562000													6	107					0	0	1	0	0
MIR518F	574472	broad.mit.edu	37	19	54203346	54203346	+	RNA	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:54203346C>T	ENST00000384973.1	+	0	78					NR_030194.1																						TAGAGGATTACTCTTTGAGAA	0.398000													10	101					0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76814248	76814248	+	Silent	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr11:76814248C>T	ENST00000529803.1	+	1	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	121					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ATGAGGCCGACGCCCTGGAGT	0.617000													7	70					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33243055	33243055	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr14:33243055G>A	ENST00000280979.4	+	12	3714	c.3544G>A	c.(3544-3546)Gtc>Atc	p.V1182I	AKAP6_ENST00000557272.1_Missense_Mutation_p.V1182I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1182					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATGCAAGCCGTCCAGTGGCA	0.428000													8	60					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877387	10877387	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr6:10877387C>T	ENST00000379491.4	-	2	476	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	110			R -> W (in FIH; abolishes DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTGTTTCAGCCGTGCCTTGTC	0.562000													5	101					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866238	140866238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr5:140866238C>T	ENST00000306593.1	+	1	1498	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGGAATCGAGATGTATC	0.527000													11	158					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	47					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929680	35929680	+	Silent	SNP	A	A	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr10:35929680A>G	ENST00000374694.1	-	1	682	c.678T>C	c.(676-678)gcT>gcC	p.A226A		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	226					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCTCGCAGGGAGCCGCGCCGC	0.791000													3	11					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322035	114322035	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr13:114322035G>A	ENST00000335678.6	+	1	566	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	112	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GACCATCCTGGCCCAGTACCT	0.602000													14	49					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45391947	45391947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr15:45391947G>A	ENST00000389039.6	-	25	3713	c.3328C>T	c.(3328-3330)Cga>Tga	p.R1110*	DUOX2_ENST00000603300.1_Nonsense_Mutation_p.R1110*			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1110	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AAAGTCTCTCGCAGGAAGGTT	0.572000													7	97					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482384	39482384	+	RNA	SNP	A	A	G	rs10009841	by1000genomes	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr4:39482384A>G	ENST00000513652.1	+	0	412																											GTCAGATTCTAACCTTTTTGT	0.438000													4	59					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													5	48					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677606	100677606	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:100677606G>T	ENST00000306151.4	+	3	2973	c.2909G>T	c.(2908-2910)gGt>gTt	p.G970V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	970	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)					ACTGCTGAAGGTACCAGCATA	0.512000													17	477					1.5739e-10	1.6471e-10	1	1	0
FZD9	8326	broad.mit.edu	37	7	72849938	72849938	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:72849938T>C	ENST00000344575.3	+	1	1830	c.1601T>C	c.(1600-1602)tTc>tCc	p.F534S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	534					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCAAGACTTTCCAGACCTGG	0.662000													6	79					0	0	1	0	0
PSG10P	653492	broad.mit.edu	37	19	43359859	43359859	+	RNA	SNP	T	T	G	rs10469289	by1000genomes	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:43359859T>G	ENST00000597171.1	-	0	11					NR_026824.1																						GTGCTGTCCTTCCTCCTTCTG	0.592000													4	69					0	0	1	0	0
UQCR10	29796	broad.mit.edu	37	22	30163555	30163555	+	Silent	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr22:30163555C>T	ENST00000401406.3	+	1	193	c.168C>T	c.(166-168)atC>atT	p.I56I	UQCR10_ENST00000330029.6_Intron			Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	0					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CCTGTGCCATCCCTGACCTTG	0.592000													5	29					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640669	29640669	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr6:29640669G>T	ENST00000376883.1	-	6	1570	c.1159C>A	c.(1159-1161)Ctc>Atc	p.L387I	ZFP57_ENST00000376881.3_Missense_Mutation_p.L387I|ZFP57_ENST00000488757.1_Missense_Mutation_p.L407I			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	323					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGCTCTGTGAGGTGGGCCTTC	0.502000													31	380					1.06801e-11	1.1443e-11	1	1	0
IQGAP3	128239	broad.mit.edu	37	1	156542309	156542309	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr1:156542309C>T	ENST00000361170.2	-	1	23	c.13G>A	c.(13-15)Gca>Aca	p.A5T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	5					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCCCGCTGCTCTCCTCTCC	0.662000													10	231					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619793	52619793	+	Silent	SNP	A	A	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:52619793A>G	ENST00000600228.1	-	4	885	c.624T>C	c.(622-624)acT>acC	p.T208T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTTTCTCTGTAGTATGTATCC	0.398000													7	162					0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287531	29287531	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr13:29287531C>T	ENST00000266943.6	-	3	715	c.346G>A	c.(346-348)Gtt>Att	p.V116I	SLC46A3_ENST00000380814.4_Missense_Mutation_p.V116I	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	116					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAGAGCCAAACGCTGGTTGCA	0.413000													6	64					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217234886	217234886	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr2:217234886C>T	ENST00000273067.4	-	1	1864	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	33						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCCTGGTGGCGCAACATCTG	0.632000													3	9					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122759892	122759892	+	Silent	SNP	T	T	C			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chrX:122759892T>C	ENST00000245838.8	-	25	2959	c.2928A>G	c.(2926-2928)aaA>aaG	p.K976K	THOC2_ENST00000491737.1_Silent_p.K861K|THOC2_ENST00000355725.4_Silent_p.K976K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	976					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCTGTAGAAATTTTGTGATGG	0.343000													7	57					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													5	36					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561829	11561829	+	Silent	SNP	C	C	T			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr1:11561829C>T	ENST00000294484.6	+	2	918	c.780C>T	c.(778-780)cgC>cgT	p.R260R	PTCHD2_ENST00000389575.3_Silent_p.R260R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	260					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACTACTCGCGCGCCTATGTGA	0.682000													3	18					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45924084	45924084	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr10:45924084G>A	ENST00000374391.2	+	7	906	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	ALOX5_ENST00000542434.1_Missense_Mutation_p.V285M	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	285	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CATTTTCATCGTGGACTTTGA	0.532000													4	45					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25203031	25203031	+	Silent	SNP	C	C	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr8:25203031C>A	ENST00000276440.7	+	26	2702	c.2658C>A	c.(2656-2658)ctC>ctA	p.L886L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	886						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGACCAGCTCAGCGGCCAGT	0.557000													6	138					2.7689e-08	2.83183e-08	1	1	0
DBT	1629	broad.mit.edu	37	1	100684276	100684276	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr1:100684276G>A	ENST00000370132.3	-	5	474	c.461C>T	c.(460-462)cCt>cTt	p.P154L	DBT_ENST00000370131.3_Missense_Mutation_p.P154L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	154					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGACACTGCAGGAGTTTCAAC	0.373000													8	171					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190584538	190584538	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr2:190584538A>G	ENST00000520309.1	+	11	2553	c.2466_splice	c.e11+1	p.Y822_splice	ANKAR_ENST00000438402.2_Splice_Site_p.Y822_splice|ANKAR_ENST00000431575.2_Splice_Site_p.Y751_splice|ANKAR_ENST00000313581.4_Splice_Site_p.Y822_splice|ANKAR_ENST00000281412.6_Splice_Site_p.Y586_splice	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	822						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTGCCAAATATGTAAGTTCC	0.343000													4	41					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151336665	151336665	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr6:151336665G>A	ENST00000367321.3	+	24	2696	c.2422G>A	c.(2422-2424)Gct>Act	p.A808T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	808	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CGACACCCGCGCTGAGATTGA	0.473000													9	124					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52145365	52145365	+	Silent	SNP	T	T	A			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr12:52145365T>A	ENST00000354534.5	+	14	2536	c.2358T>A	c.(2356-2358)gcT>gcA	p.A786A	SCN8A_ENST00000545061.1_Silent_p.A786A|SCN8A_ENST00000550891.1_Silent_p.A786A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	786					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATGTCTTGGCTGTAGGAAATC	0.423000													10	67					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543278	182543278	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr2:182543278T>G	ENST00000295108.3	-	2	767	c.310A>C	c.(310-312)Atg>Ctg	p.M104L	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	104					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTAGCCTTCATGCGTCTCAAT	0.547000													5	69					0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	RNA	DEL	AC	AC	-			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475													3	6	---	---	---	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)del	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													7	213	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579703	7579703	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr17:7579703delA	ENST00000420246.2	-	3	225	c.93delT	c.(91-93)gtfs	p.V31fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V31fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V31fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V31fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V31fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	31	Interaction with HRMT1L2.|Transcription activation (acidic).		V -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P13fs*18(1)|p.L26fs*11(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)		TCCTTACCAGAACGTTGTTTT	0.597		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)			10	92	---	---	---	---					
CBX3P2	645158	broad.mit.edu	37	18	2652677	2652678	+	RNA	DEL	AC	AC	-			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr18:2652677_2652678delAC	ENST00000579647.1	-	0	919_920					NR_033754.2																						CCTAGGTTTTACACACACACAC	0.342													3	6	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													7	42	---	---	---	---					
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs141478862	by1000genomes	TCGA-CQ-A4CH-01A-11D-A25Y-08	TCGA-CQ-A4CH-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77aa7fa-403b-4ee1-b537-695a799c80f5	92e8b340-322e-4411-95d8-7db81767f660	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)gca>gCGGca	p.366_366A>AA		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748													3	4	---	---	---	---					
