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
ABCC4	10257	broad.mit.edu	37	13	95840746	95840746	+	Silent	SNP	G	G	A	rs150945397		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:95840746G>A	ENST00000376887.4	-	10	1428	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	ABCC4_ENST00000412704.1_Silent_p.G438G|ABCC4_ENST00000536256.1_Silent_p.G363G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Silent_p.G438G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	438	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTAACAATTCGCCAGGTCTGA	0.453000													50	92					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56109002	56109002	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr19:56109002C>T	ENST00000221665.3	-	2	319	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCGGTAGGGCCGCTCCCCGGT	0.692000													41	51					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20077367	20077367	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:20077367T>C	ENST00000400230.2	-	1	52	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE2_ENST00000255310.6_Missense_Mutation_p.E3G|TPTE2_ENST00000457266.2_Missense_Mutation_p.E3G|TPTE2_ENST00000400103.2_Missense_Mutation_p.E3G|TPTE2_ENST00000390680.2_Missense_Mutation_p.E3G|TPTE2_ENST00000382977.4_Missense_Mutation_p.E3G|TPTE2_ENST00000382978.1_Missense_Mutation_p.E3G|TPTE2_ENST00000382975.4_Missense_Mutation_p.E3G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	3						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AACTCACCTTTCATTCATACG	0.368000													3	31					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10973726	10973726	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr21:10973726T>C	ENST00000298232.7	-	4	375	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E3G|TPTE_ENST00000361285.4_Missense_Mutation_p.E3G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	3					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACTCACCTTTCATTCATACG	0.378000													20	79					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													5	108					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													7	10					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829832	72829832	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr16:72829832G>A	ENST00000268489.5	-	9	7421	c.6749C>T	c.(6748-6750)aCg>aTg	p.T2250M	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1336M	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2250					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGGTAGTCCGTAAACCTTGT	0.507000													4	221					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	94					0	0	1	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Translation_Start_Site	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Silent_p.D49D			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502000													4	8					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111464025	111464025	+	Silent	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr4:111464025G>A	ENST00000265162.5	+	12	2268	c.1926G>A	c.(1924-1926)gcG>gcA	p.A642A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	642					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAGCTACAGCGCTCTCCTTGA	0.343000													8	84					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108155548	108155548	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:108155548T>C	ENST00000426128.2	-	2	513	c.388A>G	c.(388-390)Aag>Gag	p.K130E	PNPLA8_ENST00000388728.5_Missense_Mutation_p.K130E|PNPLA8_ENST00000453144.1_Missense_Mutation_p.K30E|PNPLA8_ENST00000422087.1_Missense_Mutation_p.K130E|PNPLA8_ENST00000436062.1_Missense_Mutation_p.K130E|PNPLA8_ENST00000257694.8_Missense_Mutation_p.K130E|PNPLA8_ENST00000483879.1_Intron	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	130					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GAACTTGGCTTAAATTGAGCT	0.323000													3	42					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121428040	121428040	+	Silent	SNP	C	C	T			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr11:121428040C>T	ENST00000260197.7	+	19	2718	c.2589C>T	c.(2587-2589)ggC>ggT	p.G863G		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	863					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCCAGATGGCGACTTCCGAC	0.522000													5	128					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107692592	107692592	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:107692592A>G	ENST00000388781.3	-	26	3949	c.3866T>C	c.(3865-3867)cTt>cCt	p.L1289P	LAMB4_ENST00000205386.4_Missense_Mutation_p.L1289P|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1289P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1289	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCTTCCTGAAGGTCTTCAAG	0.363000													47	81					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19961288	19961288	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr22:19961288C>T	ENST00000263207.3	-	13	2408	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	ARVCF_ENST00000406522.1_Missense_Mutation_p.R637H|ARVCF_ENST00000406259.1_Missense_Mutation_p.R700H|ARVCF_ENST00000401994.1_Missense_Mutation_p.R643H|ARVCF_ENST00000344269.3_Missense_Mutation_p.R643H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	706					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCGCTCTTTGCGCACTGTGGC	0.662000													4	129					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	107					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628628	20628628	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr11:20628628G>A	ENST00000525748.1	+	4	1028	c.755G>A	c.(754-756)gGc>gAc	p.G252D		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	252					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTGTCGCTGGGCCAGTTTGCC	0.567000													26	52					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163124612	163124612	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr2:163124612A>T	ENST00000263642.2	-	14	3187	c.2792T>A	c.(2791-2793)aTg>aAg	p.M931K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	931					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTCTGGGGTCATATTGACGTG	0.383000													3	38					0	0	1	0	0
MIR320A	0	broad.mit.edu	37	8	22102541	22102541	+	RNA	SNP	C	C	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr8:22102541C>G	ENST00000385302.1	-	0	15					NR_029714.1																						GAAGAGAAGGCGGAGGGGAGC	0.657000													38	72					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227172955	227172955	+	Splice_Site	SNP	A	A	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:227172955A>G	ENST00000366779.1	+	19	4344	c.1572_splice	c.e19-1	p.I525_splice	ADCK3_ENST00000433743.2_Splice_Site_p.I199_splice|ADCK3_ENST00000366775.1_Splice_Site_p.I370_splice|ADCK3_ENST00000366776.1_Splice_Site_p.I450_splice|ADCK3_ENST00000458507.2_Splice_Site_p.I246_splice|ADCK3_ENST00000366778.1_Splice_Site_p.I473_splice|ADCK3_ENST00000366777.3_Splice_Site_p.I525_splice|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	525					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTCTCCCCAGATCATCAGGGC	0.622000													20	218					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	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								17	31					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115453058	115453058	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:115453058A>G	ENST00000369522.3	+	17	1601	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G	SYCP1_ENST00000369518.1_Missense_Mutation_p.E454G	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	454					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACAATTTGAGAAGATTGCT	0.284000													25	47					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263325	65263325	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr14:65263325C>A	ENST00000389722.3	-	10	1344	c.1291G>T	c.(1291-1293)Gcc>Tcc	p.A431S	SPTB_ENST00000389720.3_Missense_Mutation_p.A431S|SPTB_ENST00000389721.5_Missense_Mutation_p.A431S|SPTB_ENST00000542895.1_Missense_Mutation_p.A431S|SPTB_ENST00000556626.1_Missense_Mutation_p.A431S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	431					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCATTGCGGCCTTCCGGTCA	0.587000													4	94					0.00909568	0.00930721	1	1	0
TBC1D3B	414059	broad.mit.edu	37	17	34499227	34499227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:34499227G>A	ENST00000454519.3	-	7	633	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Nonsense_Mutation_p.R162*	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562000													100	748					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	46					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014405	114014405	+	Silent	SNP	C	C	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:114014405C>G	ENST00000481065.1	+	3	2891	c.276C>G	c.(274-276)ggC>ggG	p.G92G	TIGIT_ENST00000486257.1_Silent_p.G25G|TIGIT_ENST00000383671.3_Silent_p.G25G			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	25	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGATGACAGGCACAATAGAAA	0.502000													81	188					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143570707	143570707	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr8:143570707G>A	ENST00000517894.1	+	16	3433	c.2539G>A	c.(2539-2541)Gtc>Atc	p.V847I	BAI1_ENST00000323289.5_Missense_Mutation_p.V847I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	847					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAACACGACCGTCCTGAATTC	0.627000													4	122					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040668	147040668	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr5:147040668G>A	ENST00000265272.5	-	3	937	c.470C>T	c.(469-471)gCg>gTg	p.A157V	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A115V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A157V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	157						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTCCGCAATTTCCTG	0.542000													5	248					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97063233	97063233	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr9:97063233C>T	ENST00000395395.2	+	5	1483	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	465						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TGATTGTGGGCGTGGCTTTGG	0.577000													35	63					0	0	1	0	0
TADA1	117143	broad.mit.edu	37	1	166831463	166831463	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:166831463A>C	ENST00000367874.4	-	5	610	c.517T>G	c.(517-519)Tca>Gca	p.S173A	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	173					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ACAACAGCTGAAACAGCCTCC	0.468000													40	83					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	44					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009504	46009504	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:46009504G>A	ENST00000296137.2	-	8	1527	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A441V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	441					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGGCCCGGGCATCCTCTTT	0.612000													5	472					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	117					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497957	73497957	+	Silent	SNP	G	G	A			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:73497957G>A	ENST00000321617.3	-	18	3784	c.3198C>T	c.(3196-3198)tgC>tgT	p.C1066C	CASKIN2_ENST00000433559.2_Silent_p.C984C	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1066	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGCCCTGGGCAGGGCGGCA	0.682000													4	171					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	39					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25963417	25963417	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr15:25963417C>G	ENST00000356865.6	-	8	1604	c.1493G>C	c.(1492-1494)aGc>aCc	p.S498T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	498					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGACTTGGTGCTCTGGGTTCT	0.687000													28	40					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_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	11					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112895	112112897	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:112112895_112112897delGAA	ENST00000403825.3	+	11	1506_1508	c.1245_1247delGAA	c.(1243-1248)atg>at	p.MK415del	IFRD1_ENST00000005558.4_In_Frame_Del_p.MK415del|IFRD1_ENST00000535603.1_In_Frame_Del_p.MK365del	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	415					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTAAAACGATGAAGATTTCTCGT	0.374													24	80	---	---	---	---					
EXOC3L4	91828	broad.mit.edu	37	14	103568919	103568919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr14:103568919delC	ENST00000380069.3	+	2	935	c.859delC	c.(859-861)gcfs	p.R288fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	288										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGGCTTGGTTCGCCGCGACCT	0.736													2	4	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgt>cg	p.RR591del	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													8	424	---	---	---	---					
FMNL1	752	broad.mit.edu	37	17	43323638	43323640	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:43323638_43323640delAGA	ENST00000331495.3	+	25	3488_3490	c.3152_3154delAGA	c.(3151-3156)cag>c	p.QK1051del	CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_In_Frame_Del_p.QK629del|FMNL1_ENST00000328118.3_In_Frame_Del_p.QK1051del	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	1051					actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGAGGCAGCAGAAGGAGCCACT	0.567													64	127	---	---	---	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)ggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													7	186	---	---	---	---					
LILRB2	0	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr19:54780707_54780709delGAG	ENST00000391748.1	-	10	1559_1561	c.1432_1434delCTC	c.(1432-1434)del	p.L478del	LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													7	174	---	---	---	---					
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)del	p.D107del	SMDT1_ENST00000547929.1_Intron	NM_033318.4	NP_201575.3			single-pass membrane protein with aspartate-rich tail 1																		TGTTCCAGAGGATGATGATGATG	0.478													7	111	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937664	76937697	+	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chrX:76937664_76937697delAAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	ENST00000373344.5	-	9	3265_3298	c.3051_3084delAAAGTTACCTGAGCGAGAAGAAATTTGTCATTTT	c.(3049-3084)gafs	p.EKLPEREEICHF1017fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EKLPEREEICHF979fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1017					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)	TGCCCTTAGGAAAATGACAAATTTCTTCTCGCTCAGGTAACTTTTCAGTGCCAT	0.303			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						7	10	---	---	---	---