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
RNF113A	7737	broad.mit.edu	37	X	119005283	119005283	+	Silent	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:119005283C>A	ENST00000371442.2	-	1	508	c.294G>T	c.(292-294)gtG>gtT	p.V98V		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	98							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						ATTTATAAACCACGCCGAGAC	0.542000													70	377					1.77791e-30	2.76768e-30	1	1	0
PASD1	139135	broad.mit.edu	37	X	150840245	150840245	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:150840245C>G	ENST00000370357.4	+	13	1676	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	477						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGCCTTCAACCAGGTAT	0.458000													10	76					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1980175	1980175	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr19:1980175G>C	ENST00000255641.8	+	12	1716	c.1221G>C	c.(1219-1221)aaG>aaC	p.K407N		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	407					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGAGAAAGAGAAAATCGC	0.657000													12	50					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53419051	53419051	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr13:53419051C>A	ENST00000377942.3	-	3	3060	c.2857G>T	c.(2857-2859)Gct>Tct	p.A953S	PCDH8_ENST00000338862.4_Missense_Mutation_p.A856S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	953					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)		TTACACTCAGCGGTGCACGCC	0.542000													12	36					0.00010058	0.000110055	1	1	0
HAUS7	55559	broad.mit.edu	37	X	152721782	152721782	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:152721782C>A	ENST00000421080.2	-	9	1425	c.259G>T	c.(259-261)Gcg>Tcg	p.A87S	TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.A216S|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370219.3_Missense_Mutation_p.A226S|HAUS7_ENST00000370212.3_Missense_Mutation_p.A226S|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000484394.1_5'UTR			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	226					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GCAAGCTCCGCCAGCTTCTCC	0.617000													21	86					1.2644e-06	1.4464e-06	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70367876	70367876	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:70367876T>A	ENST00000374051.3	+	2	599	c.277T>A	c.(277-279)Tgg>Agg	p.W93R	NLGN3_ENST00000536169.1_Missense_Mutation_p.W93R|NLGN3_ENST00000358741.3_Missense_Mutation_p.W93R	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	93					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCCCCATCCTGGTCGGGCAT	0.632000													11	38					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210917	205210917	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr1:205210917C>T	ENST00000358024.3	+	2	881	c.492C>T	c.(490-492)ggC>ggT	p.G164G	TMCC2_ENST00000545499.1_Silent_p.G86G|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	164						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCAAGCGGGGCGCCAGCCTGC	0.726000													11	11					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11418708	11418708	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:11418708G>T	ENST00000423059.3	-	26	5041	c.4790C>A	c.(4789-4791)cCa>cAa	p.P1597Q	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1597						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGCCCAAATGGCTGTAGAAA	0.453000										HNSCC(18;0.044)			11	45					1.58986e-06	1.80503e-06	1	1	0
NMUR2	56923	broad.mit.edu	37	5	151772020	151772020	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:151772020T>C	ENST00000255262.3	-	4	1145	c.980A>G	c.(979-981)tAt>tGt	p.Y327C		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	327					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGTAGGTTATAGATAATGGG	0.493000													34	80					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	69					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098901	11098901	+	RNA	SNP	C	C	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr21:11098901C>G	ENST00000470054.1	-	0	24									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gggaacagagcagctcagcgg	0.582000													5	17					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10096648	10096648	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:10096648G>A	ENST00000380861.4	+	17	2723	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	WWC3_ENST00000454666.1_Missense_Mutation_p.E778K	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	778										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCAGGCGGTGGAGAGGGAACT	0.672000													3	28					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193749	28193749	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr22:28193749G>A	ENST00000302326.4	-	1	3737	c.2783C>T	c.(2782-2784)tCg>tTg	p.S928L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	928							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTCATTCCCCGACGTGGATTC	0.682000			T	ETV6	"""AML, meningioma"""								7	25					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29347033	29347033	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr15:29347033G>T	ENST00000558402.1	+	5	1545	c.946G>T	c.(946-948)Gag>Tag	p.E316*	APBA2_ENST00000561069.1_Nonsense_Mutation_p.E316*|APBA2_ENST00000411764.1_Nonsense_Mutation_p.E316*|APBA2_ENST00000558259.1_Nonsense_Mutation_p.E316*|APBA2_ENST00000558330.1_Nonsense_Mutation_p.E316*			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	316					nervous system development|protein transport		protein binding	p.E316Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GTGGCCCCACGAGCAGGTAGG	0.657000													6	11					0.0215528	0.0221392	1	1	0
HAND1	9421	broad.mit.edu	37	5	153857327	153857327	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:153857327C>T	ENST00000231121.2	-	1	497	c.242G>A	c.(241-243)aGc>aAc	p.S81N		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	81					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCGCCCGGGGCTCTGCCCAGG	0.731000													6	11					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466535	10466535	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr8:10466535C>A	ENST00000382483.3	-	4	5296	c.5073G>T	c.(5071-5073)caG>caT	p.Q1691H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1691					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)		TCTGCAGAATCTGCTGCAGGT	0.612000													40	71					6.4771e-29	9.98002e-29	1	1	0
TULP4	56995	broad.mit.edu	37	6	158924089	158924089	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr6:158924089G>T	ENST00000367097.3	+	13	4751	c.3394G>T	c.(3394-3396)Gtt>Ttt	p.V1132F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1132					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGGTGAGGATGTTTGGGTTCC	0.592000													19	23					1.67942e-08	2.02023e-08	1	1	0
TXNDC16	57544	broad.mit.edu	37	14	53004326	53004326	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr14:53004326T>C	ENST00000281741.4	-	5	679	c.308A>G	c.(307-309)tAt>tGt	p.Y103C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	103					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTGAATAAATATGCTTTCAT	0.274000													6	17					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62596661	62596661	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr8:62596661G>C	ENST00000541428.1	-	2	263	c.103C>G	c.(103-105)Ctg>Gtg	p.L35V	ASPH_ENST00000522835.1_Missense_Mutation_p.L35V|ASPH_ENST00000356457.5_Missense_Mutation_p.L64V|ASPH_ENST00000389204.4_Missense_Mutation_p.L35V|ASPH_ENST00000518068.1_Missense_Mutation_p.L64V|ASPH_ENST00000522603.1_Missense_Mutation_p.L35V|ASPH_ENST00000517856.1_Missense_Mutation_p.L64V|ASPH_ENST00000379449.6_Missense_Mutation_p.L64V|ASPH_ENST00000517661.1_Missense_Mutation_p.L35V|ASPH_ENST00000379454.4_Missense_Mutation_p.L64V|ASPH_ENST00000445642.3_Missense_Mutation_p.L35V|ASPH_ENST00000517847.2_Missense_Mutation_p.L35V|ASPH_ENST00000517903.1_Missense_Mutation_p.L35V	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	64					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAGACGCCCAGCAATGCAATC	0.413000													13	45					0	0	1	0	0
SPHK1	8877	broad.mit.edu	37	17	74383481	74383481	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:74383481C>T	ENST00000545180.1	+	8	1778	c.969C>T	c.(967-969)ccC>ccT	p.P323P	SPHK1_ENST00000392496.3_Silent_p.P323P|SPHK1_ENST00000323374.4_Silent_p.P409P|SPHK1_ENST00000592299.1_Silent_p.P323P|SPHK1_ENST00000590959.1_Silent_p.P337P			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	323					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						TATATGTGCCCGTGGTCGCCT	0.597000													10	57					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223066777	223066777	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:223066777T>C	ENST00000350526.4	-	8	1442	c.1306A>G	c.(1306-1308)Atg>Gtg	p.M436V	PAX3_ENST00000344493.4_Intron|PAX3_ENST00000392069.2_Missense_Mutation_p.M436V|PAX3_ENST00000392070.2_Missense_Mutation_p.M436V|PAX3_ENST00000409551.3_Missense_Mutation_p.M435V|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	436					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTCTTCATATGGTCTAGT	0.562000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						21	31					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20219786	20219786	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr3:20219786T>A	ENST00000412997.1	-	4	744	c.393A>T	c.(391-393)agA>agT	p.R131S	SGOL1_ENST00000425061.1_Missense_Mutation_p.R131S|SGOL1_ENST00000417364.1_Missense_Mutation_p.R131S|SGOL1_ENST00000412868.1_Missense_Mutation_p.R131S|SGOL1_ENST00000452020.1_Missense_Mutation_p.R131S|SGOL1_ENST00000306698.2_Missense_Mutation_p.R131S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Missense_Mutation_p.R131S|SGOL1_ENST00000419233.2_Missense_Mutation_p.R131S|SGOL1_ENST00000383774.1_Missense_Mutation_p.R131S|SGOL1_ENST00000442720.1_Missense_Mutation_p.R131S|SGOL1_ENST00000421451.1_Missense_Mutation_p.R131S|SGOL1_ENST00000263753.4_Missense_Mutation_p.R131S|SGOL1_ENST00000429446.3_Missense_Mutation_p.R131S|SGOL1_ENST00000443724.1_Missense_Mutation_p.R131S	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	131	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CAAATAAATTTCTGGAGCTGT	0.303000													8	72					0	0	1	0	0
SVILP1	645954	broad.mit.edu	37	10	30986357	30986357	+	RNA	SNP	T	T	C	rs117915096	by1000genomes	TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr10:30986357T>C	ENST00000435645.1	+	0	347																											CGGCGCTCAATAGTGGGGACT	0.552000													3	15					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36162689	36162689	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:36162689G>T	ENST00000378660.1	+	11	1460	c.1272G>T	c.(1270-1272)agG>agT	p.R424S	CHDC2_ENST00000313548.4_Missense_Mutation_p.R424S					calponin homology domain containing 2																		tgtgtctgagggtgtttccaa	0.453000													12	52					7.03913e-09	8.71236e-09	1	1	0
OR10G8	219869	broad.mit.edu	37	11	123900871	123900871	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:123900871C>A	ENST00000431524.1	+	1	575	c.542C>A	c.(541-543)cCg>cAg	p.P181Q		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGATGCACCGCCCATCCTG	0.522000													63	145					1.3268e-25	2.02371e-25	1	1	0
BEND2	139105	broad.mit.edu	37	X	18183130	18183130	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:18183130C>T	ENST00000380033.4	-	14	2531	c.2399G>A	c.(2398-2400)tGa>tAa	p.*800*		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	0										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGCTGCCGTTCAGGTGCTTGG	0.488000													21	111					0	0	1	0	0
FAM74A4	401508	broad.mit.edu	37	9	65488165	65488165	+	RNA	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr9:65488165G>T	ENST00000377512.1	-	0	829					NR_026802.1																						atattggccaggctggtcttg	0.542000													2	0					0.004672	0.00486532	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113075207	113075207	+	Silent	SNP	C	C	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:113075207C>G	ENST00000316851.7	+	2	297	c.297C>G	c.(295-297)acC>acG	p.T99T	NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Silent_p.T108T|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	109	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGAGGCCACCGTCAACGTGA	0.517000													18	33					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98633231	98633231	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:98633231C>T	ENST00000361125.1	-	17	2315	c.1996G>A	c.(1996-1998)Gtg>Atg	p.V666M	SMURF1_ENST00000361368.2_Missense_Mutation_p.V640M|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	666	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			AACGTCTCCACCGCTTGCCAG	0.577000													35	46					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43692503	43692503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr10:43692503C>T	ENST00000395809.1	-	11	3775	c.1269G>A	c.(1267-1269)tgG>tgA	p.W423*	RASGEF1A_ENST00000374459.1_Nonsense_Mutation_p.W431*|RASGEF1A_ENST00000395810.1_Nonsense_Mutation_p.W423*			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	423	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CTACCTGTGTCCATGTCATGA	0.512000													28	31					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025415	39025415	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr19:39025415G>T	ENST00000355481.4	+	78	11431	c.11300G>T	c.(11299-11301)cGg>cTg	p.R3767L	RYR1_ENST00000359596.3_Missense_Mutation_p.R3772L|RYR1_ENST00000360985.3_Missense_Mutation_p.R3772L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3772					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCACACCCGGGGGGCGGCC	0.587000													10	15					3.86212e-05	4.25679e-05	1	1	0
UGT2A3	79799	broad.mit.edu	37	4	69817274	69817274	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr4:69817274G>T	ENST00000251566.4	-	1	235	c.205C>A	c.(205-207)Cct>Act	p.P69T		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	69						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATGCAGAAGGCTTCCTGTAG	0.418000													28	53					1.62565e-12	2.11614e-12	1	1	0
ZNF613	79898	broad.mit.edu	37	19	52448502	52448502	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr19:52448502T>G	ENST00000293471.6	+	6	2045	c.1366T>G	c.(1366-1368)Ttt>Gtt	p.F456V	ZNF613_ENST00000391794.4_Missense_Mutation_p.F420V|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGACACCCTTTGTATGTAC	0.438000													26	61					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458527	142458527	+	Missense_Mutation	SNP	C	C	A	rs148440491	by1000genomes	TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:142458527C>A	ENST00000486171.1	+	2	179	c.162C>A	c.(160-162)aaC>aaA	p.N54K	PRSS1_ENST00000311737.7_Missense_Mutation_p.N54K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	54	Peptidase S1.		N -> S (in PCTT; associated with Ile-29; the double mutant shows increased autocatalytic activation which is solely due to the Ile-29 mutation).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCCTCATCAACGAACAGTGGG	0.567000													46	70					2.40228e-13	3.26796e-13	1	1	0
TRIML2	205860	broad.mit.edu	37	4	189013063	189013063	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr4:189013063G>A	ENST00000512729.1	-	7	1002	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	TRIML2_ENST00000326754.3_Missense_Mutation_p.P235S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	210	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCAGGCAGGGATGAGCTGTT	0.478000													18	40					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230184	91230184	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr4:91230184A>G	ENST00000509176.1	+	2	1037	c.749A>G	c.(748-750)gAt>gGt	p.D250G	CCSER1_ENST00000333691.8_Missense_Mutation_p.D250G|CCSER1_ENST00000432775.2_Missense_Mutation_p.D250G	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CTTTCTGCTGATCTTACCACA	0.438000													36	80					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74318272	74318272	+	Missense_Mutation	SNP	A	A	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr4:74318272A>T	ENST00000395792.2	+	12	1683	c.1583A>T	c.(1582-1584)gAt>gTt	p.D528V	AFP_ENST00000226359.2_Missense_Mutation_p.D528V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	528	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCATTCTCTGATGACAAGTTC	0.473000									Alpha-Fetoprotein, Hereditary Persistence of				22	47					0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95227214	95227214	+	Silent	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr9:95227214G>T	ENST00000375544.3	-	5	942	c.699C>A	c.(697-699)acC>acA	p.T233T	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Silent_p.T233T|ASPN_ENST00000375543.1_Silent_p.T233T	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	233					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TAGGAACTGAGGTCAGTTTTG	0.368000													31	81					5.45727e-16	7.92353e-16	1	1	0
SRP68	6730	broad.mit.edu	37	17	74068495	74068495	+	Silent	SNP	A	A	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:74068495A>C	ENST00000307877.2	-	1	239	c.78T>G	c.(76-78)ggT>ggG	p.G26G	SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_Silent_p.G26G	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	26					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						caccgccgctaccgccgccgc	0.657000													3	5					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155280	55155280	+	Splice_Site	SNP	A	A	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr4:55155280A>T	ENST00000257290.5	+	21	3210	c.2880_splice	c.e21+1	p.K960_splice	FIP1L1_ENST00000507166.1_Splice_Site_p.K720_splice	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	960					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAATATAAAAAGGTGTGTTTG	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	17					0	0	1	0	0
SPATC1L	84221	broad.mit.edu	37	21	47581450	47581450	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr21:47581450G>C	ENST00000291672.5	-	5	1927	c.866C>G	c.(865-867)cCc>cGc	p.P289R	SPATC1L_ENST00000330205.6_Missense_Mutation_p.P135R	NM_001142854.1	NP_001136326.1			spermatogenesis and centriole associated 1-like																		GCGCAGGTCGGGCCGCTGCTT	0.692000													13	15					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113078026	113078026	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:113078026C>T	ENST00000316851.7	+	5	642	c.642C>T	c.(640-642)acC>acT	p.T214T	NCAM1_ENST00000533760.1_Silent_p.T106T|NCAM1_ENST00000401611.2_Silent_p.T223T|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	224	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGAATGCCACCGCCAACCTCG	0.527000													17	60					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44104923	44104923	+	Silent	SNP	T	T	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:44104923T>C	ENST00000272286.2	+	13	1983	c.1893T>C	c.(1891-1893)agT>agC	p.S631S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	631	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGATCCTCAGTGTCATGGAGC	0.527000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	73					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595558	44595558	+	Silent	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr1:44595558C>A	ENST00000372299.3	+	2	673	c.615C>A	c.(613-615)ctC>ctA	p.L205L	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	205					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGGCAGTGCTCCCCTCCATGG	0.592000													26	74					3.28513e-13	4.38986e-13	1	1	0
FLT1	2321	broad.mit.edu	37	13	28903861	28903861	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr13:28903861C>T	ENST00000282397.4	-	19	2849	c.2598G>A	c.(2596-2598)ggG>ggA	p.G866G	FLT1_ENST00000540678.1_Silent_p.G84G	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	866	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGGCCGTGGCCCCCTCTGTGT	0.567000													5	16					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103917890	103917890	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr10:103917890G>A	ENST00000405356.1	+	5	761	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NOLC1_ENST00000605788.1_Missense_Mutation_p.E176K|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.E177K			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	176	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTCAAGCTCCGAGGATGAGCC	0.488000													16	71					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241459940	241459940	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:241459940G>A	ENST00000391987.1	-	9	1942	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	ANKMY1_ENST00000361678.4_Missense_Mutation_p.R385C|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R296C|ANKMY1_ENST00000405523.3_Missense_Mutation_p.R385C|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R287C|ANKMY1_ENST00000272972.3_Missense_Mutation_p.R526C|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R464C|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R615C|ANKMY1_ENST00000373318.2_Missense_Mutation_p.R385C			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	526							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GTCCGCCAGCGCTTCCTCCGC	0.701000													11	16					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35646463	35646463	+	Missense_Mutation	SNP	T	T	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr19:35646463T>G	ENST00000342879.3	+	1	788	c.10T>G	c.(10-12)Tct>Gct	p.S4A	FXYD5_ENST00000392218.2_Missense_Mutation_p.S4A|FXYD5_ENST00000541435.2_Missense_Mutation_p.S4A|FXYD5_ENST00000590686.1_Missense_Mutation_p.S4A|FXYD5_ENST00000392219.2_Missense_Mutation_p.S4A|FXYD5_ENST00000423817.3_Missense_Mutation_p.S4A|FXYD5_ENST00000588699.1_Missense_Mutation_p.S4A|FXYD5_ENST00000543307.1_Missense_Mutation_p.S4A			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	4					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GATGTCGCCCTCTGGTCGCCT	0.657000													27	52					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890793	23890793	+	Silent	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr15:23890793G>T	ENST00000532292.1	-	1	382	c.288C>A	c.(286-288)ccC>ccA	p.P96P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGCTACCGGGGGTCCGGGCT	0.637000													4	10					0.00024832	0.000267831	1	1	0
RP1	6101	broad.mit.edu	37	8	55537725	55537725	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr8:55537725C>A	ENST00000220676.1	+	4	1431	c.1283C>A	c.(1282-1284)gCt>gAt	p.A428D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	428					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGGAGAATGCTACTGTGGAC	0.448000													19	54					6.94344e-10	8.88525e-10	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23412125	23412125	+	Silent	SNP	A	A	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:23412125A>T	ENST00000379361.4	+	3	3350	c.2490A>T	c.(2488-2490)atA>atT	p.I830I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	830					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGTTTTTAATAGCATTTGTCA	0.398000													26	79					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76869334	76869334	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:76869334A>G	ENST00000409709.3	+	9	1133	c.861A>G	c.(859-861)atA>atG	p.I287M	MYO7A_ENST00000409619.2_Missense_Mutation_p.I276M|MYO7A_ENST00000409893.1_Missense_Mutation_p.I287M|MYO7A_ENST00000458637.2_Missense_Mutation_p.I287M	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	287	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTAACTGCATAACCTGTGAGG	0.617000													3	25					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643801	138643801	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:138643801G>T	ENST00000394800.2	+	6	1246	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	MATR3_ENST00000394805.3_Missense_Mutation_p.D233Y|MATR3_ENST00000361059.2_Missense_Mutation_p.D233Y|MATR3_ENST00000510056.1_Missense_Mutation_p.D233Y|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.D233Y|MATR3_ENST00000502929.1_Missense_Mutation_p.D233Y|MATR3_ENST00000502499.1_Intron			P43243	MATR3_HUMAN	matrin 3	233						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGTAGGGATGATTCTTTTTT	0.403000													25	56					2.79863e-10	3.61191e-10	1	1	0
SENP7	57337	broad.mit.edu	37	3	101083731	101083731	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr3:101083731T>A	ENST00000394095.2	-	10	1476	c.1423A>T	c.(1423-1425)Act>Tct	p.T475S	SENP7_ENST00000314261.7_Missense_Mutation_p.T409S|SENP7_ENST00000348610.3_Missense_Mutation_p.T442S|SENP7_ENST00000358203.3_Missense_Mutation_p.T311S|SENP7_ENST00000394091.1_Missense_Mutation_p.T311S|SENP7_ENST00000394094.2_Missense_Mutation_p.T410S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	475					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATTCAGAAGTACTCTCATTT	0.328000													8	26					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180526	142180526	+	RNA	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:142180526G>T	ENST00000390368.2	-	0	398																											AGTAACTGCTGGCACAGAAGT	0.582000													107	336					2.81171e-42	4.42259e-42	1	1	0
OR4K14	122740	broad.mit.edu	37	14	20483257	20483257	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr14:20483257A>C	ENST00000305045.2	-	1	95	c.96T>G	c.(94-96)ttT>ttG	p.F32L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATAGACCCCAAAGAAAAATA	0.438000													19	46					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353247	133353247	+	Silent	SNP	T	T	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr12:133353247T>C	ENST00000204726.3	-	21	4509	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567000													5	106					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357745	46357745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr13:46357745G>A	ENST00000400405.2	-	2	689	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	195					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CAGTCGGCCTGGGTGGGGGTC	0.602000													9	21					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142720	49142720	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:49142720G>T	ENST00000055335.6	+	4	1584	c.1568G>T	c.(1567-1569)aGc>aTc	p.S523I	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S177I|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S194I|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S177I|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S177I	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	523						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					ATGTCCCCCAGCCATCCCCTG	0.677000													4	23					0.000602214	0.000644925	1	1	0
IL13RA1	3597	broad.mit.edu	37	X	117883722	117883722	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:117883722A>G	ENST00000371666.3	+	4	536	c.469A>G	c.(469-471)Aac>Gac	p.N157D	IL13RA1_ENST00000371642.1_Missense_Mutation_p.N157D|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	157						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TCCCGACACTAACTATACTCT	0.428000													42	189					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561032	142561032	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:142561032T>A	ENST00000392957.2	+	5	834	c.47T>A	c.(46-48)aTg>aAg	p.M16K	EPHB6_ENST00000442129.1_Missense_Mutation_p.M16K|EPHB6_ENST00000411471.2_Missense_Mutation_p.M16K	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	16						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGGCGGGCATGGTGTGTAGC	0.612000													4	20					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr12:25398285C>T	ENST00000311936.3	-	2	225	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000256078.4_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	3					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129367175	129367175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:129367175G>T	ENST00000393232.1	+	10	1435	c.1318G>T	c.(1318-1320)Gga>Tga	p.G440*	NRF1_ENST00000311967.2_Nonsense_Mutation_p.G440*|NRF1_ENST00000393231.3_Nonsense_Mutation_p.G440*|NRF1_ENST00000353868.4_Nonsense_Mutation_p.G374*|NRF1_ENST00000393230.2_Nonsense_Mutation_p.G440*|NRF1_ENST00000223190.4_Nonsense_Mutation_p.G440*|NRF1_ENST00000539636.1_Nonsense_Mutation_p.G279*	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	440	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.G440*(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGCAGCCGTCGGAGCACTTAC	0.522000													38	46					8.16277e-20	1.20841e-19	1	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020705	33020705	+	RNA	SNP	G	G	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr16:33020705G>C	ENST00000565407.2	+	0	113				RP11-19N8.2_ENST00000567619.1_RNA																							GGGTCCCTGAGACTGTCCTGT	0.577000													58	156					0	0	1	0	0
GNGT1	2792	broad.mit.edu	37	7	93540135	93540135	+	Missense_Mutation	SNP	G	G	T	rs149827734		TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:93540135G>T	ENST00000248572.5	+	3	278	c.130G>T	c.(130-132)Gtt>Ttt	p.V44F	GNGT1_ENST00000455502.1_3'UTR|GNGT1_ENST00000429473.1_Missense_Mutation_p.V44F	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	44					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AAGAGATTACGTTGAAGAACG	0.418000													31	97					3.90053e-15	5.55641e-15	1	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555151	44555151	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr18:44555151C>T	ENST00000330682.2	-	1	1298	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	355	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						ACCCCTTCCACGTCGCCGAGG	0.652000													21	874					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50070760	50070760	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:50070760G>T	ENST00000046087.2	-	5	703	c.634C>A	c.(634-636)Ctt>Att	p.L212I	ZPBP_ENST00000419417.1_Missense_Mutation_p.L211I|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	212					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCAGACTTAAGTAAGGAAATT	0.338000													26	77					2.44723e-14	3.45357e-14	1	1	0
LZTS3	9762	broad.mit.edu	37	20	3146165	3146165	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr20:3146165C>A	ENST00000329152.3	-	2	2698	c.1301G>T	c.(1300-1302)cGg>cTg	p.R434L	LZTS3_ENST00000360342.3_Missense_Mutation_p.R388L|LZTS3_ENST00000337576.5_Missense_Mutation_p.R388L	NM_014731.2	NP_055546.1																					TTCCTCTATCCGGGGCAGGAA	0.662000													3	47					0.115264	0.115264	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3038699	3038699	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr8:3038699G>T	ENST00000520002.1	-	38	6216	c.5661C>A	c.(5659-5661)aaC>aaA	p.N1887K	CSMD1_ENST00000602723.1_Missense_Mutation_p.N1887K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N1887K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N1887K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N1886K|CSMD1_ENST00000539096.1_Missense_Mutation_p.N1886K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N1886K|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1887	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTAGAGTTGGTTGGAAGTAC	0.408000													15	29					2.23348e-06	2.51684e-06	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80750658	80750658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr12:80750658C>T	ENST00000458043.2	+	48	5962	c.5956C>T	c.(5956-5958)Cga>Tga	p.R1986*	OTOGL_ENST00000546620.1_Nonsense_Mutation_p.R5*|OTOGL_ENST00000547103.1_Nonsense_Mutation_p.R1974*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GATTCAAGTTCGACAGGAAGA	0.343000													31	13					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272549	47272549	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:47272549G>T	ENST00000377073.3	+	4	1163	c.1077G>T	c.(1075-1077)caG>caT	p.Q359H		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	359					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGCCCTATCAGTGTAATGAAT	0.418000													12	31					2.80697e-09	3.56179e-09	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89498415	89498415	+	Missense_Mutation	SNP	T	T	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr3:89498415T>C	ENST00000336596.2	+	14	2612	c.2387T>C	c.(2386-2388)aTa>aCa	p.I796T	EPHA3_ENST00000494014.1_Missense_Mutation_p.I796T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	796	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCAGAAGCTATAGCCTACCGC	0.428000										TSP Lung(6;0.00050)			53	104					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140463	78140463	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr14:78140463C>A	ENST00000216489.3	-	6	877	c.862G>T	c.(862-864)Gca>Tca	p.A288S		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	288	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGAGGGACTGCGTGGTTCAAG	0.567000													18	38					3.32936e-07	3.86718e-07	1	1	0
PPP1R1B	84152	broad.mit.edu	37	17	37786260	37786260	+	Silent	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:37786260G>A	ENST00000254079.4	+	4	670	c.201G>A	c.(199-201)aaG>aaA	p.K67K	PPP1R1B_ENST00000394265.1_Silent_p.K31K|PPP1R1B_ENST00000579000.1_Intron|PPP1R1B_ENST00000580825.1_Silent_p.K67K|PPP1R1B_ENST00000394267.2_Silent_p.K31K	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	67					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCAAGTCGAAGAGACCCAACC	0.602000													12	42					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927219	4927219	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:4927219C>T	ENST00000320785.5	+	23	3442	c.3085C>T	c.(3085-3087)Ccc>Tcc	p.P1029S		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1029	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GTCCCACCATCCCCGCAGGAA	0.672000													17	35					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119513369	119513369	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:119513369C>T	ENST00000218008.3	+	8	1011	c.954C>T	c.(952-954)gaC>gaT	p.D318D	ATP1B4_ENST00000539306.1_Silent_p.D275D|ATP1B4_ENST00000361319.3_Silent_p.D314D	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	318					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ACTTTACAGACGTGGTGAAGA	0.468000													24	134					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815960	82815960	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:82815960C>A	ENST00000265077.3	+	7	2400	c.1835C>A	c.(1834-1836)cCt>cAt	p.P612H	VCAN_ENST00000342785.4_Missense_Mutation_p.P612H|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P564H|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	612	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTAATTATGCCTGATAATAAT	0.413000													32	78					5.90632e-09	7.43212e-09	1	1	0
SLC4A1	6521	broad.mit.edu	37	17	42337248	42337248	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:42337248G>A	ENST00000262418.6	-	7	693	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	180					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCCCAGAGCGTGTCAGGACT	0.612000													17	75					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4904054	4904054	+	Missense_Mutation	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:4904054C>T	ENST00000380378.1	+	1	1006	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	OR51T1_ENST00000322049.1_Missense_Mutation_p.L309F|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCCAGCTGCTCCAATCCAA	0.453000													60	68					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96949571	96949571	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:96949571G>A	ENST00000323853.5	-	32	4641	c.4564C>T	c.(4564-4566)Ccc>Tcc	p.P1522S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1522						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGCTCCAAGGGGACGGGACGC	0.577000													5	13					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262055	45262055	+	Missense_Mutation	SNP	C	C	T	rs56377228		TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:45262055C>T	ENST00000303230.4	-	8	2698	c.2641G>A	c.(2641-2643)Gca>Aca	p.A881T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	881						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGCTTTTCTGCGTCTGGGTCT	0.473000													24	195					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133554221	133554221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:133554221G>A	ENST00000409261.1	-	12	1262	c.889C>T	c.(889-891)Cga>Tga	p.R297*	NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R297*|NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.R297*|NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.R297*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	297							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCATCAGTTCGTGACTGTGTC	0.438000													3	17					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683301	9683301	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:9683301G>A	ENST00000330255.4	-	3	334	c.322C>T	c.(322-324)Cca>Tca	p.P108S	DHRS7C_ENST00000571134.1_Missense_Mutation_p.P107S	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	108						extracellular region	binding|oxidoreductase activity	p.P108T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GCCACATCTGGGACACAGCTG	0.507000													8	22					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148055098	148055098	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:148055098C>A	ENST00000370460.2	+	16	3844	c.3365C>A	c.(3364-3366)tCc>tAc	p.S1122Y	AFF2_ENST00000286437.5_Missense_Mutation_p.S763Y|AFF2_ENST00000342251.3_Missense_Mutation_p.S1089Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S1087Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1122					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCAAAGTCCCCATACACC	0.473000													19	65					0.000132079	0.000143481	1	1	0
EPHB3	2049	broad.mit.edu	37	3	184290477	184290477	+	Silent	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr3:184290477C>A	ENST00000330394.2	+	3	821	c.369C>A	c.(367-369)ccC>ccA	p.P123P	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	123						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCAACATCCCCGGCTCCTGCA	0.597000													3	38					0.115264	0.115264	1	1	0
GNGT1	2792	broad.mit.edu	37	7	93540133	93540133	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:93540133A>G	ENST00000248572.5	+	3	276	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	GNGT1_ENST00000455502.1_3'UTR|GNGT1_ENST00000429473.1_Missense_Mutation_p.Y43C	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	43					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GTAAGAGATTACGTTGAAGAA	0.418000													30	98					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408793	40408793	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr19:40408793G>T	ENST00000221347.6	-	8	4053	c.4046C>A	c.(4045-4047)gCc>gAc	p.A1349D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1349	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGCTGGGAGGCACGGATCTG	0.587000													8	18					5.18039e-06	5.75176e-06	1	1	0
FAM84A	151354	broad.mit.edu	37	2	14774134	14774134	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:14774134C>A	ENST00000295092.2	+	2	319	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	FAM84A_ENST00000331243.4_Missense_Mutation_p.L11I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	11										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CATCACCCACCTCAACTACAG	0.612000													12	25					4.3838e-07	5.05308e-07	1	1	0
LARGE	9215	broad.mit.edu	37	22	33700323	33700323	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr22:33700323T>A	ENST00000354992.2	-	13	2193	c.1622A>T	c.(1621-1623)tAc>tTc	p.Y541F	LARGE_ENST00000452586.2_Missense_Mutation_p.Y340F|LARGE_ENST00000437602.2_Missense_Mutation_p.Y541F|LARGE_ENST00000337431.2_Missense_Mutation_p.Y489F|LARGE_ENST00000397394.2_Missense_Mutation_p.Y541F|LARGE_ENST00000402320.1_Missense_Mutation_p.Y489F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	541					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTTCACGGGGTAGAACTGGCC	0.582000													34	76					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43019057	43019057	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr6:43019057C>T	ENST00000535468.1	-	4	1220	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	CUL7_ENST00000265348.3_Silent_p.L294L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	294	Interaction with TP53.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TACTGAACTCCAGCTCCAGTT	0.632000													13	51					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811101	140811101	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:140811101A>G	ENST00000252085.3	+	1	917	c.775A>G	c.(775-777)Acg>Gcg	p.T259A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTGGGCACGCAGCTGCT	0.597000													26	45					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761685	55761685	+	Silent	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:55761685G>T	ENST00000278409.1	-	1	416	c.417C>A	c.(415-417)acC>acA	p.T139T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTAGGTAGACGGTCCTGGACA	0.522000													23	59					7.87624e-14	1.10122e-13	1	1	0
KRT38	8687	broad.mit.edu	37	17	39596463	39596463	+	Silent	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:39596463C>A	ENST00000246646.3	-	2	524	c.525G>T	c.(523-525)ctG>ctT	p.L175L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	175	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTTGTACAATCAGCCTGGCAT	0.547000													3	28					0.115264	0.115264	1	1	0
C14orf178	283579	broad.mit.edu	37	14	78234807	78234807	+	Splice_Site	SNP	A	A	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr14:78234807A>G	ENST00000355883.3	+	2	296	c.88_splice	c.e2+1	p.P29_splice	C14orf178_ENST00000439131.2_Intron|C14orf178_ENST00000556047.1_Silent_p.P29P|C14orf178_ENST00000557011.1_Intron	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	29										large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		ATGATCAACCAGGTACAGAAT	0.313000													40	102					0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249721	3249721	+	Silent	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:3249721G>A	ENST00000389832.5	-	2	615	c.309C>T	c.(307-309)cgC>cgT	p.R103R	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.R102R			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	102						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGAAGAAGCGCAGCGTTG	0.667000													16	71					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28128750	28128750	+	Silent	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr16:28128750G>A	ENST00000304658.5	-	15	2393	c.1893C>T	c.(1891-1893)taC>taT	p.Y631Y	XPO6_ENST00000565698.1_Silent_p.Y617Y	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	631					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACCAGTGAGAGTAAGCCTGCA	0.448000													28	60					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237753185	237753185	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr1:237753185G>T	ENST00000366574.2	+	30	4008	c.3691G>T	c.(3691-3693)Ggc>Tgc	p.G1231C	RYR2_ENST00000360064.6_Missense_Mutation_p.G1229C|RYR2_ENST00000542537.1_Missense_Mutation_p.G1215C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1231	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACCATCTGTGGCTTACAAGA	0.448000													35	34					1.61788e-16	2.37184e-16	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs149751844	by1000genomes	TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr15:102292770C>T	ENST00000561463.1	+	0	816																											AGCGGCGCGACGAGATGCTGC	0.597000													3	32					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119434593	119434593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr3:119434593G>T	ENST00000463700.1	+	6	751	c.685G>T	c.(685-687)Gag>Tag	p.E229*	MAATS1_ENST00000273390.5_Intron					MYCBP-associated, testis expressed 1																		TACTTGGGGTGAGTTGGTAAA	0.473000													25	36					2.00529e-23	3.02799e-23	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34149195	34149195	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:34149195G>T	ENST00000346193.3	-	1	1252	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	401										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGAGGCACTGGGTGGAGATGA	0.572000													33	55					5.8336e-16	8.38928e-16	1	1	0
GBP3	2635	broad.mit.edu	37	1	89479840	89479840	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr1:89479840G>A	ENST00000370481.4	-	5	771	c.551C>T	c.(550-552)tCc>tTc	p.S184F		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	184						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CAAGTCCAGGGAGAAATCTCT	0.458000													80	92					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588730	33588730	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:33588730C>A	ENST00000504830.1	-	18	3174	c.2839G>T	c.(2839-2841)Gac>Tac	p.D947Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D862Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	947	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTGTCCAGTCCGAGGGGCAC	0.587000										HNSCC(64;0.19)			38	169					4.14481e-20	6.19669e-20	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119027354	119027354	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:119027354G>T	ENST00000307417.3	+	8	1255	c.891G>T	c.(889-891)ttG>ttT	p.L297F	ABCG4_ENST00000449422.2_Missense_Mutation_p.L297F|ABCG4_ENST00000531739.1_Missense_Mutation_p.L297F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	297	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GACTCGGCTTGCATTGCCCCA	0.577000													30	72					1.68575e-08	2.02023e-08	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50464030	50464030	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:50464030C>A	ENST00000404971.1	-	19	4902	c.3563G>T	c.(3562-3564)cGa>cTa	p.R1188L	NRXN1_ENST00000405472.3_Missense_Mutation_p.R1140L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1140L|NRXN1_ENST00000342183.5_Missense_Mutation_p.R113L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1148L|NRXN1_ENST00000401710.1_Missense_Mutation_p.R166L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1148L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1148L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1148	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTGTCTGCTCGTGTACTGGG	0.473000													17	64					1.15088e-07	1.35768e-07	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129149223	129149223	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:129149223C>A	ENST00000540052.1	+	3	2519	c.2475C>A	c.(2473-2475)agC>agA	p.S825R	BCORL1_ENST00000218147.7_Missense_Mutation_p.S825R|BCORL1_ENST00000359304.2_Missense_Mutation_p.S825R|BCORL1_ENST00000303743.5_Missense_Mutation_p.S825R	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	825					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AACCTACCAGCACCCAGGTCC	0.607000													30	119					3.1745e-13	4.2799e-13	1	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17373464	17373464	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr10:17373464C>A	ENST00000377602.4	-	5	539	c.465G>T	c.(463-465)gaG>gaT	p.E155D		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	155					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.E155D(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TGCTTTCCACCTCGTAACTCA	0.383000													7	48					0.00307968	0.00322939	1	1	0
ARHGDIA	396	broad.mit.edu	37	17	79827720	79827720	+	Silent	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:79827720G>A	ENST00000269321.7	-	2	222	c.87C>T	c.(85-87)ccC>ccT	p.P29P	ARHGDIA_ENST00000584461.1_Silent_p.P29P|ARHGDIA_ENST00000580685.1_Silent_p.P29P|ARHGDIA_ENST00000400721.4_Silent_p.P29P|ARHGDIA_ENST00000581876.1_Silent_p.P29P|ARHGDIA_ENST00000541078.2_Silent_p.P29P	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	29					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCTGGGCCGGGGGCTTGTAGT	0.632000													11	56					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840273	57840273	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr19:57840273C>T	ENST00000321545.4	+	4	1788	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCTATGAGTGCGTGGAGTGTG	0.493000													26	51					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25529040	25529040	+	Silent	SNP	A	A	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr6:25529040A>T	ENST00000329474.6	+	24	2354	c.1986A>T	c.(1984-1986)ctA>ctT	p.L662L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	662					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ACTACCTGCTACGAAATCACG	0.483000													3	15					0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126595	32126595	+	Missense_Mutation	SNP	T	T	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:32126595T>A	ENST00000265070.6	-	4	935	c.620A>T	c.(619-621)aAc>aTc	p.N207I		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	207					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CTTAATGTTGTTATTGGTGAG	0.468000													41	122					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212612	10212612	+	Missense_Mutation	SNP	C	C	T	rs142532419	by1000genomes	TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:10212612C>T	ENST00000418404.3	-	34	5271	c.5108G>A	c.(5107-5109)cGc>cAc	p.R1703H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1703H|MYH13_ENST00000570743.1_Missense_Mutation_p.R1703H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1703					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGACAGCCTGCGGGTCCGCTC	0.667000													16	22					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								10	36					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364752	6364752	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:6364752C>A	ENST00000262483.8	-	18	2518	c.2431G>T	c.(2431-2433)Ggg>Tgg	p.G811W	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.G775W	NM_031220.3	NP_112497.2																					TGCACCAGCCCATCGGAGAAG	0.612000													30	91					8.4185e-14	1.16623e-13	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643082	1643082	+	Missense_Mutation	SNP	T	T	C	rs59610171		TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:1643082T>C	ENST00000399682.1	-	1	286	c.242A>G	c.(241-243)tAt>tGt	p.Y81C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	81	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAAGAGCCATAGCCCCCCTT	0.657000													6	158					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113955408	113955408	+	Missense_Mutation	SNP	A	A	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:113955408A>C	ENST00000245796.6	+	14	2737	c.2542A>C	c.(2542-2544)Acc>Ccc	p.T848P	PSD4_ENST00000441564.2_Missense_Mutation_p.T819P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	848	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCGCTGGCCACCCCCGCCAC	0.657000													8	43					0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4592699	4592699	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr11:4592699C>A	ENST00000307616.1	-	4	607	c.608G>T	c.(607-609)cGt>cTt	p.R203L		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	203										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		aagtagaacacgatccataca	0.418000													2	0					0.0016	0.00170141	1	1	0
HADHB	3032	broad.mit.edu	37	2	26507010	26507010	+	Missense_Mutation	SNP	C	C	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:26507010C>G	ENST00000317799.5	+	13	1191	c.1087C>G	c.(1087-1089)Cta>Gta	p.L363V	HADHB_ENST00000405867.3_Missense_Mutation_p.L240V|HADHB_ENST00000545822.1_Missense_Mutation_p.L341V|HADHB_ENST00000537713.1_Missense_Mutation_p.L348V|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	363					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAAAAGTTCTAGAAAAGGC	0.318000													39	84					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490841	71490841	+	Silent	SNP	T	T	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:71490841T>C	ENST00000296755.7	+	5	1957	c.1659T>C	c.(1657-1659)ccT>ccC	p.P553P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	553						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AACCACTTCCTAGCAAATCCG	0.478000													14	27					0	0	1	0	0
HAND1	9421	broad.mit.edu	37	5	153857326	153857326	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:153857326G>C	ENST00000231121.2	-	1	498	c.243C>G	c.(241-243)agC>agG	p.S81R		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	81					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCCGCCCGGGGCTCTGCCCAG	0.736000													6	11					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953438	50953438	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr10:50953438G>T	ENST00000374103.4	-	12	1666	c.1581C>A	c.(1579-1581)taC>taA	p.Y527*	OGDHL_ENST00000432695.1_Nonsense_Mutation_p.Y318*|OGDHL_ENST00000419399.1_Nonsense_Mutation_p.Y470*	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	527					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTTGTCTGCGTACTTCTTCA	0.602000													13	31					7.03913e-09	8.71236e-09	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133401	91133401	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:91133401G>T	ENST00000373094.1	+	2	3007	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I	PCDH11X_ENST00000373097.1_Missense_Mutation_p.R721I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R721I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R721I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R721I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R721I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R721I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R721I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R721I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	721	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGAAACACAAGAGATCTGTTT	0.423000													38	83					4.15811e-52	6.6092e-52	1	1	0
SLC17A1	6568	broad.mit.edu	37	6	25813326	25813326	+	Missense_Mutation	SNP	C	C	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr6:25813326C>A	ENST00000244527.4	-	7	847	c.732G>T	c.(730-732)caG>caT	p.Q244H	SLC17A1_ENST00000476801.1_Missense_Mutation_p.Q244H|SLC17A1_ENST00000468082.1_Missense_Mutation_p.Q244H|SLC17A1_ENST00000427328.1_Missense_Mutation_p.Q244H	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	244					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GTTCTACCTGCTGGACCAGGG	0.413000													33	90					1.21669e-08	1.49366e-08	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19744529	19744529	+	Missense_Mutation	SNP	G	G	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr21:19744529G>T	ENST00000284885.3	-	6	678	c.645C>A	c.(643-645)gaC>gaA	p.D215E		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	215	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TATTGTCTTCGTCAGAACCAT	0.443000													16	55					1.56452e-12	2.05429e-12	1	1	0
TAF1B	9014	broad.mit.edu	37	2	9994470	9994470	+	Missense_Mutation	SNP	A	A	G			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr2:9994470A>G	ENST00000263663.5	+	5	507	c.319A>G	c.(319-321)Aat>Gat	p.N107D	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	107					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTTTTACATAATTTTTGGAA	0.423000													23	52					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48940655	48940655	+	Missense_Mutation	SNP	G	G	C			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr17:48940655G>C	ENST00000499247.2	-	2	1157	c.724C>G	c.(724-726)Caa>Gaa	p.Q242E	TOB1_ENST00000268957.3_Missense_Mutation_p.Q242E	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	242	Poly-Gln.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgctgctgttgctgtggctgc	0.542000													13	62					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	46					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22274454	22274454	+	Silent	SNP	C	C	T			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr16:22274454C>T	ENST00000263026.5	+	12	1797	c.1323C>T	c.(1321-1323)agC>agT	p.S441S		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	441					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GTGGGGACAGCGGATACCCCA	0.567000													4	28					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261252	160261254	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr1:160261252_160261254delGGC	ENST00000241704.7	-	31	3520_3522	c.3291_3293delGCC	c.(3289-3294)cat>ca	p.QP1097del	COPA_ENST00000368069.3_In_Frame_Del_p.QP1106del	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1097					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGTGCACAGGCTGCAGGTTTG	0.507											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	45	---	---	---	---					
BMP2K	55589	broad.mit.edu	37	4	79793787	79793790	+	Frame_Shift_Del	DEL	CTTT	CTTT	-	rs139086449	byFrequency	TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr4:79793787_79793790delCTTT	ENST00000335016.5	+	13	1794_1797	c.1628_1631delCTTT	c.(1627-1632)gcfs	p.AF543fs	BMP2K_ENST00000502871.1_Frame_Shift_Del_p.AF543fs	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	543	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TATCAGCAGGCTTTCTTTCAACAG	0.431													17	42	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24511455	24511455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr5:24511455delC	ENST00000264463.4	-	6	1490	c.983delG	c.(982-984)gcfs	p.G328fs		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTGATGATGCCTTCCTGTGT	0.413										HNSCC(23;0.051)			46	184	---	---	---	---					
DDX39B	7919	broad.mit.edu	37	6	31503134	31503134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr6:31503134delG	ENST00000453105.2	-	5	790	c.604delC	c.(604-606)ttfs	p.L203fs	ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000458640.1_Intron|DDX39B_ENST00000396172.1_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000415382.2_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						gaaggtagaagggTATTTACA	0.562													20	74	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64532708	64532709	+	RNA	INS	-	-	A			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr7:64532708_64532709insA	ENST00000426828.1	+	0	1228					NR_033416.1																						AAATGGGGACCAAAAAAAAAAA	0.351													2	4	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673379	6673379	+	RNA	DEL	G	G	-	rs66614253		TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr8:6673379delG	ENST00000518724.1	-	0	1019							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTGGTCCACAGATGCCCCCTG	0.557											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	6	---	---	---	---					
C5	727	broad.mit.edu	37	9	123753470	123753470	+	Splice_Site	DEL	T	T	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr9:123753470delT	ENST00000223642.1	-	23	2969	c.2941_splice	c.e23+1	p.K980_splice		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	980					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTAATTTACCTTTTACACTCA	0.348													32	60	---	---	---	---					
CLEC4C	170482	broad.mit.edu	37	12	7883472	7883474	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr12:7883472_7883474delAAG	ENST00000542353.1	-	6	906_908	c.416_418delCTT	c.(415-420)tat>t	p.SY139del	CLEC4C_ENST00000540085.1_In_Frame_Del_p.SY108del|CLEC4C_ENST00000354629.5_In_Frame_Del_p.SY108del|CLEC4C_ENST00000360345.3_In_Frame_Del_p.SY139del	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	139	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CCCAGAAAATAAGAAGAATTTCT	0.448													48	46	---	---	---	---					
OTOGL	283310	broad.mit.edu	37	12	80747121	80747121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr12:80747121delG	ENST00000458043.2	+	45	5403	c.5397delG	c.(5395-5397)gafs	p.E1799fs	OTOGL_ENST00000547103.1_Frame_Shift_Del_p.E1787fs	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGCCCAGAGGGGAAGGAAT	0.378													12	3	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													7	78	---	---	---	---					
HERC2P3	283755	broad.mit.edu	37	15	20636427	20636427	+	RNA	DEL	G	G	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr15:20636427delG	ENST00000428453.1	-	0	3959																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGAGGATCATGGGGGGCTGCG	0.502													9	9	---	---	---	---					
SLC1A5	6510	broad.mit.edu	37	19	47290993	47290993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chr19:47290993delC	ENST00000542575.2	-	1	858	c.230delG	c.(229-231)gtfs	p.G77fs		NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	77					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CGCCAGCGCACCCCCGGCCCC	0.711													2	4	---	---	---	---					
ARHGAP36	158763	broad.mit.edu	37	X	130220551	130220551	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-8655-01A-11D-2393-08	TCGA-78-8655-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a06aebd-2395-4eec-8b8d-cada74c4408e	a08ec060-82d9-40be-a042-826ca0c1afb8	g.chrX:130220551delG	ENST00000276211.5	+	11	1743	c.1398delG	c.(1396-1398)atfs	p.M466fs	ARHGAP36_ENST00000370922.1_Frame_Shift_Del_p.M454fs|ARHGAP36_ENST00000370921.1_Frame_Shift_Del_p.M330fs	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	466					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCATAAAGATGGAAGAGGATG	0.458													22	134	---	---	---	---