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
ARHGAP4	393	broad.mit.edu	37	X	153175625	153175625	+	Splice_Site	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:153175625C>T	ENST00000370028.3	-	18	2333	c.2276_splice	c.e18+1	p.G759_splice	ARHGAP4_ENST00000370016.1_Splice_Site_p.G698_splice|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000350060.5_Splice_Site_p.G719_splice|ARHGAP4_ENST00000393721.1_Splice_Site_p.G541_splice|ARHGAP4_ENST00000537206.1_Splice_Site_p.G696_splice	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	719	SH3.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTGTACCCCAGGCAGCT	0.677000													26	26					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609250	32609250	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:32609250G>A	ENST00000343139.5	+	2	348	c.246G>A	c.(244-246)ccG>ccA	p.P82P	HLA-DQA1_ENST00000395363.1_Silent_p.P82P|HLA-DQA1_ENST00000374949.2_Silent_p.P82P	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	81	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTTTTGACCCGCAGGGTGCAC	0.502000													20	13					0	0	1	0	0
PHOX2A	401	broad.mit.edu	37	11	71954958	71954958	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:71954958C>T	ENST00000298231.5	-	1	262	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	PHOX2A_ENST00000544057.1_Intron	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	31					noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAAGCCGCCGGGCTGGCTG	0.716000													4	11					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115143531	115143531	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:115143531G>A	ENST00000393274.1	-	14	2491	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	DENND2C_ENST00000393277.1_Silent_p.Y622Y|DENND2C_ENST00000393276.3_Silent_p.Y565Y|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	622	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		GCATGAATGGGTAAACAAGGG	0.418000													24	43					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350456	100350456	+	RNA	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:100350456C>A	ENST00000542585.1	+	0	2876				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P910T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACC	0.498000													5	217					0.184627	0.184627	1	1	0
ACSL4	2182	broad.mit.edu	37	X	108911498	108911498	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:108911498G>A	ENST00000340800.2	-	12	1774	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	ACSL4_ENST00000348502.6_Silent_p.L383L|ACSL4_ENST00000469796.2_Silent_p.L424L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	424					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TTTTTAAACAGTAACCTTAAT	0.438000													35	36					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104822679	104822679	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:104822679G>A	ENST00000444739.2	-	3	1226	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	CASP4_ENST00000393150.3_Missense_Mutation_p.L50F|CASP4_ENST00000531333.1_Intron	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	106					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CAAAGCTTGAGGGCATCTGTA	0.413000													18	35					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70338671	70338671	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:70338671G>T	ENST00000333646.6	+	1	266	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	MED12_ENST00000374102.1_Missense_Mutation_p.D23Y|MED12_ENST00000374080.3_Missense_Mutation_p.D23Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	23					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.D23Y(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCCTCCCGATGTTTACCC	0.677000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						16	24					0.000566183	0.000585485	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154863078	154863078	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:154863078G>A	ENST00000287907.2	+	1	1045	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	AC093726.4_ENST00000543018.1_De_novo_Start_InFrame|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_De_novo_Start_InFrame	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	157						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCGCAAGTGCGTCTCCAACGT	0.622000													35	67					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089191	57089191	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:57089191G>A	ENST00000330619.8	+	6	2080	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	ZNF470_ENST00000391709.3_Missense_Mutation_p.R465H|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTCAGCCATCGTGGGTCTCTT	0.443000													34	63					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584263	88584263	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:88584263G>A	ENST00000339673.6	+	6	1432	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.E429K	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	445					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGTCAGAGCGAGGAAAGCCA	0.542000													70	17					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204502	56204502	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:56204502C>T	ENST00000361673.3	-	5	3130	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	973							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTGGTGTGGCTGTGGTGTCT	0.458000													4	54					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	21					0.014758	0.0150896	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25928532	25928532	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:25928532C>T	ENST00000356865.6	-	17	3504	c.3393G>A	c.(3391-3393)tcG>tcA	p.S1131S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1131					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)		GGGGAAGTGACGAGAAGAGCA	0.527000													4	63					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42763366	42763366	+	Silent	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:42763366C>G	ENST00000379274.2	+	15	1854	c.1425C>G	c.(1423-1425)gcC>gcG	p.A475A	DGKH_ENST00000261491.4_Silent_p.A611A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Silent_p.A475A|DGKH_ENST00000540693.1_Silent_p.A611A|DGKH_ENST00000538674.1_Silent_p.A366A|DGKH_ENST00000337343.4_Silent_p.A611A			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	611					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CCCAGAAAGCCGTCAAACCAA	0.458000													22	59					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117723945	117723945	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:117723945C>T	ENST00000317775.6	-	6	1939	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.S418S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	418					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCACACAGCGCGAGGCATTCC	0.562000													31	55					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820144	43820144	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:43820144G>A	ENST00000382031.1	+	5	7218	c.7187G>A	c.(7186-7188)cGa>cAa	p.R2396Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.R2158Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2158Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2158						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCCTGCCCGACCCAGTCTG	0.617000													89	87					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067002	62067002	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:62067002A>G	ENST00000404929.1	-	3	1148	c.1137T>C	c.(1135-1137)taT>taC	p.Y379Y	FAM161A_ENST00000405894.3_Silent_p.Y379Y	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	379					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAGGTTTCGATAGAGCTCTT	0.433000													51	42					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31913052	31913052	+	Missense_Mutation	SNP	G	G	C	rs147553278		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:31913052G>C	ENST00000299367.5	+	18	2453	c.2177G>C	c.(2176-2178)cGa>cCa	p.R726P	CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R594P|CFB_ENST00000456570.1_Intron|C2_ENST00000468407.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R512P|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.R480P	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCGCCGCCACGAGACTTTCAC	0.587000													26	61					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79911276	79911276	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:79911276A>C	ENST00000438737.2	-	19	3134	c.2694T>G	c.(2692-2694)ttT>ttG	p.F898L	RBM26_ENST00000438724.1_Missense_Mutation_p.F874L|RBM26_ENST00000267229.7_Missense_Mutation_p.F871L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	898	RRM 2.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CGCTCTCCGTAAATGCAGAAA	0.507000													14	35					0	0	1	0	0
GRM3	0	broad.mit.edu	37	7	86468552	86468552	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:86468552C>T	ENST00000361669.2	+	4	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.D166D|GRM3_ENST00000536043.1_Silent_p.D446D|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	574					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGTGGGAAGACGCCTGGGCCA	0.498000													36	57					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641083	29641083	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:29641083G>A	ENST00000376883.1	-	6	1156	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	ZFP57_ENST00000376881.3_Missense_Mutation_p.R249W|ZFP57_ENST00000488757.1_Missense_Mutation_p.R269W			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	185					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						GACTGGTCCCGGAAGCTCTTC	0.557000													40	83					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467497	164467497	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:164467497G>T	ENST00000333129.3	-	3	1159	c.845C>A	c.(844-846)cCc>cAc	p.P282H	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	282	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAGGGGGGTGGGAGCAGGAAT	0.602000													32	38					2.80507e-11	3.07544e-11	1	1	0
TBC1D4	9882	broad.mit.edu	37	13	75884163	75884163	+	Silent	SNP	T	T	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:75884163T>C	ENST00000377636.3	-	14	2854	c.2508A>G	c.(2506-2508)tcA>tcG	p.S836S	TBC1D4_ENST00000431480.2_Silent_p.S828S|TBC1D4_ENST00000425511.1_Silent_p.S53S|TBC1D4_ENST00000377625.2_Silent_p.S773S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	836						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCAGTTCTTTTGATTTCTTTC	0.433000													23	25					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156841545	156841545	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:156841545C>A	ENST00000368196.3	+	7	968	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	NTRK1_ENST00000392302.2_Missense_Mutation_p.S253Y|NTRK1_ENST00000524377.1_Missense_Mutation_p.S283Y|NTRK1_ENST00000358660.3_Missense_Mutation_p.S283Y	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	283	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTCAACGTCTCCTGTGAGTCT	0.582000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			9	72					3.07112e-06	3.24967e-06	1	1	0
FAM124A	220108	broad.mit.edu	37	13	51825708	51825708	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:51825708C>A	ENST00000322475.8	+	3	340	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	FAM124A_ENST00000280057.6_Missense_Mutation_p.L105M	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	69										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CGACAACGTCCTGGCGTGGAT	0.692000													10	33					7.48243e-07	8.0106e-07	1	1	0
LRP2	4036	broad.mit.edu	37	2	169995843	169995843	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:169995843C>T	ENST00000263816.3	-	74	13591	c.13306G>A	c.(13306-13308)Gta>Ata	p.V4436I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4436					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCTCCAATTACGACGATCAAG	0.507000													6	73					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	by1000genomes	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173																											TTTTCTCTTCGGTGAGTAATC	0.388000													6	21					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115981160	115981160	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:115981160G>T	ENST00000251864.2	+	20	2968	c.2815G>T	c.(2815-2817)Gat>Tat	p.D939Y	TDRD1_ENST00000369281.2_Missense_Mutation_p.D825Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D543Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D939Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D939Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	939					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTGCCAGTGGATAAAACTAT	0.363000													23	24					7.41877e-09	8.037e-09	1	1	0
OR2B11	127623	broad.mit.edu	37	1	247614475	247614475	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:247614475G>A	ENST00000318749.6	-	1	833	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTGGGAGTAGCTGGAAG	0.493000													15	176					0	0	1	0	0
C21orf2	755	broad.mit.edu	37	21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	rs140451304		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr21:45753071C>T	ENST00000339818.4	-	4	425	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	73										endometrium(2)	2				Colorectal(79;0.0806)		GCTGGGGATGCGGTTCCTCCG	0.677000													10	19					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215815735	215815735	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:215815735C>G	ENST00000272895.7	-	45	6939	c.6720G>C	c.(6718-6720)gaG>gaC	p.E2240D	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E1922D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2240					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTTAATCTCTCAGCCCGCA	0.383000													81	93					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224831613	224831613	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:224831613A>G	ENST00000258383.3	+	4	930	c.861A>G	c.(859-861)gaA>gaG	p.E287E	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	287	DRBM.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACCTGGGGAAACAGTATTGG	0.403000													40	105					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541016	72541016	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:72541016G>A	ENST00000330793.1	-	2	492	c.132C>T	c.(130-132)cgC>cgT	p.R44R		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	44	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCTTCTCATAGCGACACTGCA	0.532000													29	34					0	0	1	0	0
SCNN1A	0	broad.mit.edu	37	12	6472683	6472683	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:6472683G>C	ENST00000358945.3	-	2	1050	c.610C>G	c.(610-612)Cgt>Ggt	p.R204G	SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R227G|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R263G			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	204					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCCACGCTACGGGCTCGACGG	0.741000													18	10					0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134009765	134009765	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:134009765A>G	ENST00000299106.4	+	2	255	c.96A>G	c.(94-96)gtA>gtG	p.V32V	JAM3_ENST00000441717.3_Silent_p.V32V|JAM3_ENST00000529443.2_Silent_p.V77V|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	32					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TAGGGGCTGTAAATCTCAAAT	0.438000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	31					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955062	104955062	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:104955062C>T	ENST00000507740.1	+	11	2221	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	RIMS2_ENST00000406091.3_Missense_Mutation_p.T870M|RIMS2_ENST00000436393.2_Missense_Mutation_p.T648M|RIMS2_ENST00000262231.10_Missense_Mutation_p.T709M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	932					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAACTTCAGACGCATGATGTC	0.418000										HNSCC(12;0.0054)			15	77					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580595	7580595	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:7580595A>G	ENST00000379802.3	+	23	4513	c.4172A>G	c.(4171-4173)tAc>tGc	p.Y1391C	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1391	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCAGTGGCTACCGGGCTCAG	0.463000													46	79					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17337954	17337954	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:17337954G>C	ENST00000215061.4	+	3	442	c.398G>C	c.(397-399)gGa>gCa	p.G133A	OCEL1_ENST00000597836.1_Missense_Mutation_p.G77A|OCEL1_ENST00000601529.1_Missense_Mutation_p.G133A|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	133										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AAGCCTATTGGAGCCATCCCT	0.592000													12	142					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43526694	43526694	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:43526694G>A	ENST00000282041.5	-	7	1646	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	538					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATGGCTTCCGCTCGCTGGGC	0.478000													16	41					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31525450	31525450	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:31525450C>G	ENST00000357033.4	-	56	8544	c.8338G>C	c.(8338-8340)Gat>Cat	p.D2780H	DMD_ENST00000378707.3_Missense_Mutation_p.D320H|DMD_ENST00000474231.1_Missense_Mutation_p.D320H|DMD_ENST00000378677.2_Missense_Mutation_p.D2776H|DMD_ENST00000343523.2_Missense_Mutation_p.D320H|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000541735.1_Missense_Mutation_p.D320H|DMD_ENST00000359836.1_Missense_Mutation_p.D320H	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2780					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCATGTTATCCAAACGTCTT	0.413000													20	27					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													5	68					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			45	8					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2816009	2816009	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:2816009G>A	ENST00000301740.8	+	11	6029	c.5480G>A	c.(5479-5481)cGg>cAg	p.R1827Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1827	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACCTGCCCGGCAGGAAAGT	0.652000													10	45					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119013766	119013766	+	Silent	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:119013766T>A	ENST00000264245.4	+	1	547	c.15T>A	c.(13-15)ggT>ggA	p.G5G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	5					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAACAAGGGTGCTAAGCAGA	0.587000													9	80					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103497474	103497474	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:103497474T>A	ENST00000372588.4	-	3	625	c.542A>T	c.(541-543)gAc>gTc	p.D181V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	181					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTGCACTCTGTCTTCAGTCAA	0.393000													64	136					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152713287	152713287	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:152713287C>T	ENST00000334497.2	-	10	1155	c.14G>A	c.(13-15)gGa>gAa	p.G5E	HAUS7_ENST00000370219.3_3'UTR|TREX2_ENST00000402951.1_Missense_Mutation_p.G5E|HAUS7_ENST00000370211.4_3'UTR|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000370232.1_Missense_Mutation_p.G5E|TREX2_ENST00000393862.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000414588.1_5'UTR|TREX2_ENST00000338525.2_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	5					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGCTTCCTGCCCGCCC	0.537000								Editing and processing nucleases					111	249					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72657505	72657505	+	RNA	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:72657505G>A	ENST00000425256.1	-	0	2406					NR_002164.1																						ccaccttgtcgtatttcgtct	0.512000													13	159					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748846	70748846	+	Silent	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:70748846C>G	ENST00000361983.4	+	1	360	c.258C>G	c.(256-258)ccC>ccG	p.P86P		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	86					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CCGAGGGGCCCGTCGCCCAGC	0.721000													4	65					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236752	30236752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:30236752C>T	ENST00000378988.4	+	2	156	c.55C>T	c.(55-57)Cga>Tga	p.R19*		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	19							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCGCAAGGCCCGAGATGAGAC	0.547000													18	26					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422054	53422054	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:53422054C>T	ENST00000377942.3	-	1	721	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PCDH8_ENST00000338862.4_Missense_Mutation_p.R173H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	173	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCGGCCAGGCGCACGGTCTG	0.716000													6	11					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	45					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383699	33383699	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:33383699C>T	ENST00000374516.3	+	15	1799	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	510					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTTCCTAGACGCTCAGCACC	0.592000													48	92					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100865978	100865978	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:100865978T>G	ENST00000358544.2	+	56	10547	c.10436T>G	c.(10435-10437)aTt>aGt	p.I3479S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.I3454S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3479					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAGAACCCATTCAGTGTTCC	0.418000													241	33					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128938646	128938646	+	Splice_Site	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:128938646G>C	ENST00000375990.3	+	36	4414	c.4011_splice	c.e36+1	p.Q1337_splice	UGGT1_ENST00000259253.6_Splice_Site_p.Q1361_splice			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1361	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATGCTGATCAGGTAGGCCCTT	0.378000													29	43					0	0	1	0	0
RPLP0P2	0	broad.mit.edu	37	11	61405179	61405179	+	RNA	SNP	A	A	T	rs143569110		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:61405179A>T	ENST00000496593.1	+	0	1783					NR_002775.2																						ttacttctttaaaaaaaaaaa	0.299000													4	7					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38056900	38056900	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:38056900A>G	ENST00000328550.2	-	4	529	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.C144R|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTGTCTGCATTCCTTACAT	0.353000													6	54					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220421348	220421348	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:220421348G>A	ENST00000404537.1	-	13	4220	c.4164C>T	c.(4162-4164)gcC>gcT	p.A1388A	OBSL1_ENST00000265317.5_Silent_p.A287A|OBSL1_ENST00000373876.1_Silent_p.A1296A|OBSL1_ENST00000265318.4_Silent_p.A1296A|OBSL1_ENST00000603926.1_Silent_p.A1388A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1388	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTGACATCGGCATCTGGTG	0.617000													24	56					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899865	151899865	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:151899865C>T	ENST00000393900.3	-	3	1289	c.936G>A	c.(934-936)ggG>ggA	p.G312G	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.G312G|MAGEA12_ENST00000357916.4_Silent_p.G312G	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	312										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACTCTTCCCCCTCTCTAA	0.547000													80	102					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29701048	29701048	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:29701048G>A	ENST00000358273.4	+	58	8778	c.8395G>A	c.(8395-8397)Gtt>Att	p.V2799I	NF1_ENST00000356175.3_Missense_Mutation_p.V2778I|NF1_ENST00000444181.2_Missense_Mutation_p.V592I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2799					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAGGAGAACGTTGAACTCTC	0.493000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	62					0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177862	146177862	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:146177862C>T	ENST00000497985.1	-	4	488	c.49G>A	c.(49-51)Gga>Aga	p.G17R	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ACAATATGTCCGGGAGGTCCT	0.483000													3	4					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470756	10470756	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:10470756C>T	ENST00000382483.3	-	4	1075	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	284					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGGCCCACCGGGGGGTTGC	0.662000													7	71					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160858039	160858039	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:160858039G>A	ENST00000392145.1	+	7	1111	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	SLC22A3_ENST00000275300.2_Missense_Mutation_p.A362T			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	362						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GTTCACAAGCGCAGTGGTGTA	0.448000													10	102					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958838	49958838	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:49958838G>A	ENST00000376056.2	-	5	649	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	AKAP4_ENST00000376064.3_Missense_Mutation_p.R167C|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167C			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	176					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATTTCTAGACGTAGGTTTTGA	0.448000													49	90					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83793139	83793139	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:83793139C>A	ENST00000432794.1	-	7	903	c.740G>T	c.(739-741)cGa>cTa	p.R247L	SEC31A_ENST00000311785.7_Missense_Mutation_p.R247L|SEC31A_ENST00000443462.2_Missense_Mutation_p.R242L|SEC31A_ENST00000508479.1_Missense_Mutation_p.R247L|SEC31A_ENST00000513858.1_Missense_Mutation_p.R247L|SEC31A_ENST00000509142.1_Missense_Mutation_p.R247L|SEC31A_ENST00000508502.1_Missense_Mutation_p.R247L|SEC31A_ENST00000505984.1_Missense_Mutation_p.R247L|SEC31A_ENST00000395310.2_Missense_Mutation_p.R247L|SEC31A_ENST00000505472.1_Missense_Mutation_p.R247L|SEC31A_ENST00000500777.2_Missense_Mutation_p.R247L|SEC31A_ENST00000448323.1_Missense_Mutation_p.R247L|SEC31A_ENST00000355196.2_Missense_Mutation_p.R247L|SEC31A_ENST00000348405.4_Missense_Mutation_p.R247L|SEC31A_ENST00000326950.5_Missense_Mutation_p.R247L|SEC31A_ENST00000436790.2_5'UTR			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	247	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGAAGCAAATCGAAGATCCCA	0.473000													44	14					1.32136e-16	1.46638e-16	1	1	0
GPR63	0	broad.mit.edu	37	6	97246772	97246772	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:97246772T>A	ENST00000229955.3	-	2	1181	c.836A>T	c.(835-837)tAc>tTc	p.Y279F	GPR63_ENST00000417980.1_Missense_Mutation_p.Y279F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	279						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACCTTCAGGGTAGCTATGGAT	0.468000													19	64					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709178	77709178	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:77709178G>A	ENST00000328313.5	+	3	957	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	246					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATCACATCCGACCACGGCAT	0.612000													7	94					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711965	45711965	+	Splice_Site	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:45711965G>T	ENST00000310806.4	-	3	1115	c.658_splice	c.e3+1	p.Y219_splice		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	219					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATAGTTTACCGTAAGTTAAAT	0.343000													4	84					0.150653	0.152327	1	1	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	120					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29092971	29092971	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr22:29092971A>C	ENST00000544772.1	-	11	1786	c.350T>G	c.(349-351)cTt>cGt	p.L117R	CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.L338R|CHEK2_ENST00000382580.2_Missense_Mutation_p.L381R|CHEK2_ENST00000328354.6_Missense_Mutation_p.L338R|CHEK2_ENST00000403642.1_Missense_Mutation_p.L247R|CHEK2_ENST00000382578.1_Missense_Mutation_p.L247R|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.L338R	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	338	FHA.		R -> G (in dbSNP:rs28909982).		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTTTCATGAAGGTACTACAC	0.398000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	12					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433770	72433770	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:72433770C>T	ENST00000373517.3	-	1	914	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.G45S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	187	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex		p.G187S(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCTCATTACCATACATCTCT	0.408000													9	81					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAGGCAACCGTGAAGAAAAG	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			58	37					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127464289	127464289	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:127464289C>T	ENST00000368808.3	-	1	101	c.102G>A	c.(100-102)tcG>tcA	p.S34S		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	34					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCTCCAGGTCCGAGCGGTCCC	0.677000													19	46					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331566	28331566	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:28331566G>A	ENST00000341901.4	+	4	1388	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	200	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						ATGACGCGCCGCGTGGGCTGC	0.726000													17	14					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132980594	132980594	+	Missense_Mutation	SNP	G	G	A	rs148528328		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:132980594G>A	ENST00000254624.5	+	9	1133	c.908G>A	c.(907-909)cGt>cAt	p.R303H	EFR3A_ENST00000334503.4_Missense_Mutation_p.R303H|EFR3A_ENST00000519656.1_Missense_Mutation_p.R267H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	303						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTTGATGCTCGTAAAAAAGAT	0.428000													18	66					0	0	1	0	0
P2RY10	0	broad.mit.edu	37	X	78216443	78216443	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:78216443A>T	ENST00000171757.2	+	4	706	c.426A>T	c.(424-426)agA>agT	p.R142S	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.R142S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	142						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TCAGGGCCAGAGACTGGAAGC	0.498000													9	98					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624296	89624296	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:89624296G>C	ENST00000371953.3	+	1	1427	c.70G>C	c.(70-72)Gac>Cac	p.D24H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	24	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.D24Y(4)|p.D24N(2)|p.D24fs*20(2)|p.D24_L25del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATTCGACTTAGACTTGACCTG	0.463000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			30	47					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44185169	44185169	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:44185169G>A	ENST00000403799.3	-	9	1649	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	GCK_ENST00000395796.3_Missense_Mutation_p.R393C|GCK_ENST00000437084.1_Missense_Mutation_p.R377C|GCK_ENST00000345378.2_Missense_Mutation_p.R395C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	394					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGGCTCTCGCGCATGCGGTTG	0.692000													9	20					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47451557	47451557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:47451557C>T	ENST00000265562.4	+	20	2346	c.2269C>T	c.(2269-2271)Cga>Tga	p.R757*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.R631*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	757	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGGCCCACGACTGCCTGA	0.677000													3	14					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57572304	57572304	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:57572304C>T	ENST00000243077.3	+	27	4990	c.4524C>T	c.(4522-4524)acC>acT	p.T1508T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1508					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAAGTGGACCGGCCACAATG	0.617000													30	137					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134385763	134385763	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr9:134385763C>T	ENST00000423007.1	+	9	1258	c.816C>T	c.(814-816)caC>caT	p.H272H	POMT1_ENST00000402686.3_Silent_p.H272H|POMT1_ENST00000404875.2_Silent_p.H155H|POMT1_ENST00000541219.1_Silent_p.H50H|POMT1_ENST00000354713.4_Silent_p.H242H|POMT1_ENST00000419118.2_Silent_p.H120H|POMT1_ENST00000372228.3_Silent_p.H294H|POMT1_ENST00000341012.7_Silent_p.H218H	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	294					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CTGGGCCCCACGACCAAATCA	0.542000													22	29					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969411	235969411	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:235969411G>C	ENST00000389794.3	-	6	3199	c.3025C>G	c.(3025-3027)Caa>Gaa	p.Q1009E	LYST_ENST00000536965.1_Missense_Mutation_p.Q1009E|LYST_ENST00000389793.2_Missense_Mutation_p.Q1009E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1009					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTTTCCTTGCTCCTCTTTG	0.348000													36	50					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974988	79974988	+	Splice_Site	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:79974988G>A	ENST00000306729.7	+	16	2026	c.1930_splice	c.e16+1	p.P643_splice	ASPSCR1_ENST00000306739.4_Splice_Site_p.P549_splice|ASPSCR1_ENST00000580534.1_Splice_Site_p.P497_splice|ASPSCR1_ENST00000582404.1_3'UTR	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	549							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGAAGCTGCCGGGTACTGCGG	0.721000			T	TFE3	alveolar soft part sarcoma								11	20					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27057848delC	ENST00000324856.7	+	3	1927	c.1556delC	c.(1555-1557)tcfs	p.S519fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	519					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCCATACTCCCAGCAGCCA	0.632			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								152	284	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27106527	27106528	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27106527_27106528insGAGT	ENST00000324856.7	+	20	6509_6510	c.6138_6139insGAGT	c.(6136-6141)gtagtgfs	p.V2047fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.V1664fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.V375fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.V1830fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2047					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E2047*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAACAAAGTGGAGTGGTGGTG	0.550			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	84	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4	---	---	---	---					
KIF1A	547	broad.mit.edu	37	2	241696841	241696843	+	In_Frame_Del	DEL	TCC	TCC	-	rs71779512		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:241696841_241696843delTCC	ENST00000498729.2	-	27	2997_2999	c.2751_2753delGGA	c.(2749-2754)gat>ga	p.ED917del	KIF1A_ENST00000320389.7_Intron	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	697					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ctcctcctcatcctcctcctcct	0.675													3	6	---	---	---	---					
AC004540.5	0	broad.mit.edu	37	7	26518689	26518690	+	RNA	DEL	CT	CT	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:26518689_26518690delCT	ENST00000418758.2	+	0	468																											CCTCATtttcctctcccacctg	0.579													2	4	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs67432959		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:64532452delT	ENST00000426828.1	+	0	1228					NR_033416.1																						atgcccagccttttttttttt	0.408													3	4	---	---	---	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:128750605_128750607delCAG	ENST00000377970.2	+	2	652_654	c.142_144delCAG	c.(142-144)del	p.Q52del	MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000259523.6_In_Frame_Del_p.Q37del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	246	---	---	---	---					
OR11H12	440153	broad.mit.edu	37	14	19377911	19377911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:19377911delC	ENST00000550708.1	+	1	390	c.318delC	c.(316-318)aafs	p.N106fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAAAAAAAACATCTCCTTTG	0.388													22	82	---	---	---	---					
KTN1-AS1	0	broad.mit.edu	37	14	56014174	56014174	+	RNA	DEL	G	G	-	rs72015246		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:56014174delG	ENST00000554558.1	-	0	364																											aaaaaaaaaagaaTTGGCACA	0.443													7	6	---	---	---	---					
RRN3P2	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													8	42	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:56056605_56056607delTGC	ENST00000584396.1	-	5	1105_1107	c.1017_1019delGCA	c.(1015-1020)caa>ca	p.QQ343del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	352	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463													8	175	---	---	---	---					
CHMP2A	27243	broad.mit.edu	37	19	59063715	59063716	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:59063715_59063716delAC	ENST00000600118.1	-	2	683_684	c.258_259delGT	c.(256-261)gtccfs	p.VS86fs	CHMP2A_ENST00000601220.1_Frame_Shift_Del_p.VS86fs|CHMP2A_ENST00000312547.2_Frame_Shift_Del_p.VS86fs			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	86	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATCTTGAGGGACACAGCCTGGA	0.545													55	123	---	---	---	---					
