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
SHROOM2	357	broad.mit.edu	37	X	9900279	9900279	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:9900279G>C	uc004csu.1	+	5	3046	c.2956G>C	c.(2956-2958)Gca>Cca	p.A986P	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	986					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGTCAGAAGGCACCGAACCC	0.587000													8	168					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38923283	38923283	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:38923283C>T	uc003jln.2	+	12	2199	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	599	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATATGACTTCAGAATTTATG	0.328000													22	42					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116199848	116199848	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:116199848T>C	uc021pyx.1	-	20	2159	c.2060_splice	c.e20-1	p.D687_splice	ABLIM1_uc021pyw.1_Intron|ABLIM1_uc021pyy.1_Intron|ABLIM1_uc021pyz.1_Intron|ABLIM1_uc021pza.1_Splice_Site_p.D627_splice|ABLIM1_uc021pyv.1_Intron|ABLIM1_uc021pyu.1_Splice_Site_p.D364_splice	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	687					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TACCTGGTAATCTGAAAAGGA	0.403000													9	13					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628296	29628296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:29628296A>T	uc010ztl.1	+	2	240	c.208A>T	c.(208-210)Aaa>Taa	p.K70*	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Nonsense_Mutation_p.K22*					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.Q69K(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATAGAAGCAAAAAGTAAAAC	0.363000													4	76					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781415	96781415	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:96781415C>T	uc021vlh.1	-	0	474	c.474G>A	c.(472-474)ccG>ccA	p.P158P		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	158					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	p.P158L(1)|p.P158Q(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCGCCCGCGCGGCTGGGGGC	0.637000													10	52					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327796	48327796	+	Missense_Mutation	SNP	A	A	T	rs141296827		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:48327796A>T	uc010dpa.3	-	4	699	c.550T>A	c.(550-552)Ttt>Att	p.F184I	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Missense_Mutation_p.F170I|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Missense_Mutation_p.F170I	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	170						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGGTGAAAAATTTTTTCCAT	0.483000													80	101					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63987951	63987951	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63987951C>T	uc001nyl.2	+	11	1516	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	FERMT3_uc001nym.2_Missense_Mutation_p.S452F	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	456	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGCCTGGCCTCCAAAGGCCGC	0.682000													8	27					0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560093	36560093	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:36560093A>G	uc002xhk.4	+	1	432	c.178A>G	c.(178-180)Atg>Gtg	p.M60V		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	60	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GGACGTGGAGATGGCCTGCTC	0.632000													41	210					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280318	152280318	+	Silent	SNP	G	G	A	rs147071702	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152280318G>A	uc001ezu.1	-	2	7080	c.7044C>T	c.(7042-7044)caC>caT	p.H2348H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2348	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCGTGCCCAATGC	0.552000									Ichthyosis				6	636					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3339765	3339765	+	Missense_Mutation	SNP	G	G	A	rs149007034		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:3339765G>A	uc002cuq.3	+	5	1591	c.1259G>A	c.(1258-1260)cGt>cAt	p.R420H	ZNF263_uc010uww.2_Missense_Mutation_p.R68H|ZNF263_uc002cur.2_Missense_Mutation_p.R68H	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGGAACCCACGTTTCCTGTCA	0.493000													53	93					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47800597	47800597	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:47800597G>A	uc002lem.4	-	10	1542	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	MBD1_uc002lef.3_Intron|MBD1_uc002leg.3_Missense_Mutation_p.R319C|MBD1_uc010dow.2_Missense_Mutation_p.R369C|MBD1_uc010xdi.2_Missense_Mutation_p.R420C|MBD1_uc010xdj.2_Intron|MBD1_uc002lel.4_Missense_Mutation_p.R346C|MBD1_uc002len.3_Missense_Mutation_p.R369C|MBD1_uc002leh.4_Intron|MBD1_uc002lei.4_Missense_Mutation_p.R369C|MBD1_uc002lej.4_Intron|MBD1_uc002lek.4_Missense_Mutation_p.R320C|MBD1_uc021ukd.1_Missense_Mutation_p.R394C|MBD1_uc021uke.1_Intron|MBD1_uc010xdk.2_Missense_Mutation_p.R394C|MBD1_uc010dox.1_Missense_Mutation_p.R346C|MBD1_uc002leo.2_Missense_Mutation_p.R369C	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	369					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CACTTCTGGCGCTTCTGGTTG	0.662000													25	175					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215972309	215972309	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:215972309C>A	uc001hku.1	-	49	10285	c.9898G>T	c.(9898-9900)Gtg>Ttg	p.V3300L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3300					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGTTGCTCACAATCTGTCTG	0.527000										HNSCC(13;0.011)			5	115					0.000602214	0.000634394	1	1	0
FLG	2312	broad.mit.edu	37	1	152285513	152285513	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152285513G>C	uc001ezu.1	-	2	1885	c.1849C>G	c.(1849-1851)Cag>Gag	p.Q617E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	617	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCTGGTTCCTACTT	0.552000									Ichthyosis				13	492					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12763077	12763077	+	Missense_Mutation	SNP	C	C	T	rs148661421		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:12763077C>T	uc002mub.2	-	15	2012	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	MAN2B1_uc010dyv.1_Missense_Mutation_p.A645T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	646					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTATACTGGCGTTGTACCTG	0.592000													7	105					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971620	34971620	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:34971620C>T	uc003zvq.3	+	1	503	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	KIAA1045_uc003zvr.3_Missense_Mutation_p.R109W	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	109							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGCCCCACCCGGAAGCTGGA	0.602000													5	354					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480218	73480218	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:73480218C>T	uc003xzb.3	+	1	837	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	83					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATAATCTGAACGAGAACGAGT	0.517000													33	66					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66974478	66974478	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:66974478G>A	uc002eqr.3	+	4	1888	c.888G>A	c.(886-888)acG>acA	p.T296T	CES2_uc002eqq.3_Silent_p.T296T|CES2_uc002eqs.3_Silent_p.T139T	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	232					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CGGGTGGCACGAGTGTGTCTT	0.597000													54	78					0	0	1	0	0
RNASE8	122665	broad.mit.edu	37	14	21526423	21526423	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21526423C>G	uc010tlm.2	+	0	372	c.372C>G	c.(370-372)caC>caG	p.H124Q	NDRG2_uc010tll.2_Intron	NM_138331	NP_612204	Q8TDE3	RNAS8_HUMAN	Homo sapiens ribonuclease, RNase A family, 8 (RNASE8), mRNA.	124						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.K123K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		AAGAGAAGCACCTGAACACAC	0.537000													26	166					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77672047	77672047	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:77672047G>A	uc001oys.3	-	4	637	c.609C>T	c.(607-609)taC>taT	p.Y203Y	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Silent_p.Y203Y	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	203					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGTCACTGAAGTAATCCCCTA	0.428000													64	128					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677937	100677937	+	Silent	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100677937T>C	uc003uxp.1	+	2	3293	c.3240T>C	c.(3238-3240)agT>agC	p.S1080S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1080	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1079T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAAGCCAGTTCATCTTCTA	0.512000													7	1238					0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41247728	41247728	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:41247728C>T	uc001znh.2	+	2	571	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CHAC1_uc010uct.1_Intron	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	Homo sapiens ChaC, cation transport regulator homolog 1 (E. coli) (CHAC1), transcript variant 1, mRNA.	184					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	p.A183T(1)		endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAGGCATTGGCCTATGTGGCC	0.597000													22	246					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681131	161681131	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:161681131C>T	uc001gbe.3	+	3	677	c.435C>T	c.(433-435)ccC>ccT	p.P145P	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Silent_p.P139P|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	122	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGGGTCCCCCCGGGCCTAACA	0.602000													31	72					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593161	11593161	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:11593161G>A	uc002gne.3	+	19	4090	c.4022G>A	c.(4021-4023)cGg>cAg	p.R1341Q	DNAH9_uc010coo.3_Missense_Mutation_p.R635Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1341	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTTTGCCCGGCATATCCGA	0.562000													13	19					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30680745	30680745	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:30680745G>A	uc002dzd.4	+	11	1425	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	FBRS_uc002dzc.4_Missense_Mutation_p.G300R	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	388	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			AACTGGACCCGGGGCCGTGGC	0.687000													78	98					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487943	63487943	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63487943G>A	uc001nxq.3	+	2	2156	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.A545T|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.A638T|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	657					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CCTGATAGCAGCCTTTACAGA	0.358000													5	76					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33533879	33533879	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:33533879G>A	uc002xbg.3	-	2	232	c.152C>T	c.(151-153)aCg>aTg	p.T51M	GSS_uc010zun.2_5'UTR|GSS_uc010zuo.2_Missense_Mutation_p.T51M|GSS_uc010zup.2_Intron|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	51					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGGGAAGAGCGTGAATGGGGC	0.567000													4	169					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12195065	12195065	+	Missense_Mutation	SNP	G	G	A	rs144326666	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:12195065G>A	uc003bwo.3	-	4	1136	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	209							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGTGGCCCCGGTACCAGCTG	0.532000													5	181					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124385314	124385314	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:124385314G>A	uc003ehg.3	+	45	6488	c.6361G>A	c.(6361-6363)Ggg>Agg	p.G2121R	KALRN_uc003ehi.3_Missense_Mutation_p.G462R|KALRN_uc003ehk.3_Missense_Mutation_p.G424R|KALRN_uc011bjz.2_Missense_Mutation_p.G213R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2120	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTGCTCAGGGGAAGCTGCT	0.572000													4	50					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229666080	229666080	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:229666080C>T	uc001htp.4	-	7	1554	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	504	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCTCTGGGCGAGCTGGATA	0.458000													51	174					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133470894	133470894	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:133470894C>A	uc004bzr.1	+	1	217	c.109C>A	c.(109-111)Cct>Act	p.P37T	FUBP3_uc010mzd.1_5'UTR	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	37					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGATTCAATTCCTCACTTGAA	0.413000													7	75					0.00198382	0.00207399	1	1	0
B3GNT4	79369	broad.mit.edu	37	12	122691360	122691360	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:122691360G>A	uc001ubx.3	+	2	780	c.562G>A	c.(562-564)Gag>Aag	p.E188K	B3GNT4_uc001uby.3_Missense_Mutation_p.E163K	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	188					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GGACTTCACTGAGGACTTCTT	0.597000													31	58					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971990	21971990	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21971990G>A	uc001wbc.3	-	1	227	c.135C>T	c.(133-135)acC>acT	p.T45T	METTL3_uc001wbb.3_5'Flank|METTL3_uc010tlw.1_Non-coding_Transcript|METTL3_uc010tlx.2_Silent_p.T45T|METTL3_uc021rox.1_Silent_p.T45T|METTL3_uc021roy.1_5'Flank	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	45					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CACTACGGAAGGTTGGAGACA	0.473000													12	101					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100678887C>T	uc003uxp.1	+	2	4243	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1397	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507000													48	495					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065099	23065099	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:23065099G>A	uc002wsv.3	-	0	1879	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	577					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTTTTGCCCGTCAGTGCCAT	0.617000													45	104					0	0	1	0	0
UQCR11	10975	broad.mit.edu	37	19	1605408	1605408	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:1605408T>C	uc002ltm.3	-	0	76	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006830	NP_006821	O14957	QCR10_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit XI (UQCR11), nuclear gene encoding mitochondrial protein, mRNA.	1					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			breast(1)|lung(2)|ovary(1)|prostate(1)	5						CGGGTCACCATCGCGGCGGAG	0.766000													4	12					0	0	1	0	0
HOXA11	3207	broad.mit.edu	37	7	27224590	27224590	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:27224590G>A	uc003syx.3	-	0	246	c.174C>T	c.(172-174)cgC>cgT	p.R58R	HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	58					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						AGGTCACTTCGCGCACGGGTT	0.612000			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	141					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:29625971C>A	uc010ztl.1	+	1	157	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328000													4	97					0.00909568	0.00936719	1	1	0
PLD1	5337	broad.mit.edu	37	3	171455769	171455769	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:171455769T>A	uc003fhs.3	-	1	420	c.73A>T	c.(73-75)Ata>Tta	p.I25L	PLD1_uc003fht.3_Missense_Mutation_p.I25L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	25					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGATTTTCTATGATATTACTC	0.458000													23	66					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515215	56515215	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:56515215C>A	uc002qmj.3	+	1	196	c.196C>A	c.(196-198)Caa>Aaa	p.Q66K	NLRP5_uc002qmi.3_Missense_Mutation_p.Q66K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	66	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTACGGGCTGCAATGGTGTCT	0.418000													9	56					0.0692343	0.0702525	1	1	0
C1orf38	9473	broad.mit.edu	37	1	28208811	28208811	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:28208811C>T	uc001bpc.4	+	3	1004	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Intron|C1orf38_uc010ofo.2_Intron	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	326	CABIT 2.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGCTGCGGCGGCGGCCAAG	0.677000													6	18					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	579583	579583	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:579583A>T	uc002loz.3	+	2	597	c.499A>T	c.(499-501)Aca>Tca	p.T167S	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_5'UTR|BSG_uc002lpa.3_Missense_Mutation_p.T51S|BSG_uc002lpc.3_Missense_Mutation_p.T214S	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	167	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CACAGAGGTCACAGGGCACCG	0.632000													8	85					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63637713	63637713	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:63637713G>A	uc002amc.3	-	3	548	c.392C>T	c.(391-393)tCt>tTt	p.S131F	CA12_uc002amd.3_Missense_Mutation_p.S131F|CA12_uc002ame.3_Missense_Mutation_p.S71F	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	131					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGTGTGCTCAGAGCCGTGCGG	0.647000													19	42					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23451447	23451447	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:23451447C>T	uc001whz.3	-	0	402	c.29G>A	c.(28-30)cGc>cAc	p.R10H		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	10	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CTCCAGCAGGCGACTGGCTTT	0.697000													7	83					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330971	51330971	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:51330971G>A	uc002ptl.3	-	1	175	c.144C>T	c.(142-144)ggC>ggT	p.G48G	KLK15_uc002ptm.3_Silent_p.G48G|KLK15_uc002ptn.3_Silent_p.G48G|KLK15_uc002pto.3_Silent_p.G47G|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.G47G|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	48	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGAGGGAAGCGCCACAGTTAA	0.632000													3	34					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063381	48063381	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:48063381A>G	uc010bek.3	+	18	2981	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	SEMA6D_uc001zvw.3_Missense_Mutation_p.D812G|SEMA6D_uc001zvy.3_Missense_Mutation_p.D874G|SEMA6D_uc001zvz.3_Missense_Mutation_p.D818G|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.D812G|SEMA6D_uc001zwc.3_Missense_Mutation_p.D799G	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	874					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CGTTCTGTTGATTCCAGAAAT	0.438000													9	122					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160062140	160062140	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160062140G>A	uc001fva.3	-	4	1703	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	IGSF8_uc001fuz.3_Missense_Mutation_p.A553V|IGSF8_uc009wtf.3_Missense_Mutation_p.A553V	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	553	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.A553V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGTAGTCGGCATGCTGCAC	0.647000													4	165					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155989	22155989	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:22155989T>C	uc021urr.1	-	3	1996	c.1847A>G	c.(1846-1848)aAa>aGa	p.K616R	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.368000													6	60					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								21	42					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531834	42531834	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:42531834C>T	uc010dni.3	+	3	2825	c.2529C>T	c.(2527-2529)tgC>tgT	p.C843C		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	843						nucleus	DNA binding	p.C843C(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACACCTGTGCGAGATTGGCT	0.552000									Schinzel-Giedion syndrome				6	68					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139404348	139404348	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:139404348C>A	uc004chz.3	-	17	2806	c.2806G>T	c.(2806-2808)Ggc>Tgc	p.G936C	NOTCH1_uc004cia.1_Missense_Mutation_p.G166C	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	936	EGF-like 24.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCGGAAGCCGGGCAGGCAG	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			70	93					5.96624e-29	6.63985e-29	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78432436	78432436	+	Splice_Site	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:78432436C>T	uc001dii.3	-	7	505	c.416_splice	c.e7-1	p.D139_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.D160_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	139	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCACCACTGTCTACAATTTAA	0.318000			"""F, N"""		oligodendroglioma								9	14					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949673	61949673	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:61949673T>A	uc002jch.3	-	4	582	c.467A>T	c.(466-468)gAc>gTc	p.D156V	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.D61V	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	156					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						GCGGCTGCCGTCTTCCAGCCT	0.557000													17	146					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41075260	41075260	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:41075260G>A	uc004dfb.3	+	34	6073	c.5440G>A	c.(5440-5442)Gat>Aat	p.D1814N	USP9X_uc004dfc.3_Missense_Mutation_p.D1814N	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1814					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAGTTCAATGATTATTTTGA	0.408000													16	91					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106224616	106224616	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:106224616C>A	uc004emu.4	-	5	1041	c.766G>T	c.(766-768)Ggt>Tgt	p.G256C	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.G256C|MORC4_uc004emw.4_Missense_Mutation_p.G4C	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	256							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAGGTAACACCGCCAGTCATT	0.353000													12	117					1.08611e-07	1.18018e-07	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108604713	108604713	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:108604713C>T	uc002tdv.3	+	1	378	c.102C>T	c.(100-102)agC>agT	p.S34S	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.S34S|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	34					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACAGTGGCAGCGCAGAAGAGC	0.502000													30	75					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513090	78513090	+	Silent	SNP	T	T	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:78513090T>G	uc001syp.3	+	14	3287	c.3114T>G	c.(3112-3114)ccT>ccG	p.P1038P	NAV3_uc001syo.3_Silent_p.P1038P|NAV3_uc010sub.2_Silent_p.P538P|NAV3_uc009zsf.3_Silent_p.P46P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1038	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGATCTCCTTCAGATGCAG	0.438000										HNSCC(70;0.22)			4	164					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25932758	25932758	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:25932758A>G	uc010crg.3	+	14	2010	c.1565A>G	c.(1564-1566)aAc>aGc	p.N522S	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Missense_Mutation_p.N302S	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	658					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAGGTGATGAACTACCGGCAG	0.617000													4	39					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17065569	17065569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17065569C>T	uc004cxv.1	+	5	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	REPS2_uc004cxw.1_Nonsense_Mutation_p.R290*|REPS2_uc011miw.1_Nonsense_Mutation_p.R150*	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	291	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAATCAGTTCCGATCCCTTCA	0.488000													72	137					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873234	68873234	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:68873234G>A	uc010yqj.2	+	0	441	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	94						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R94C(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGAAACTGCGCAACCTCACC	0.557000													18	212					0	0	1	0	0
OR7E91P	79315	broad.mit.edu	37	2	71256288	71256288	+	RNA	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:71256288C>T	uc002sho.3	+	2		c.458C>T			OR7E91P_uc010fdz.3_Non-coding_Transcript					Homo sapiens olfactory receptor, family 7, subfamily E, member 91 pseudogene (OR7E91P), non-coding RNA.																		ACCTCGGCCACGGTTCCCAAG	0.547000													5	19					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226308	152226308	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:152226308G>T	uc022cho.1	+	0	896	c.896G>T	c.(895-897)aGt>aTt	p.S299I	PNMA3_uc004fhc.2_Missense_Mutation_p.S299I|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	299					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cgagtcttaagtggggccacc	0.502000													12	77					2.27111e-07	2.42956e-07	1	1	0
TRIM71	131405	broad.mit.edu	37	3	32932670	32932670	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:32932670C>T	uc003cff.3	+	3	2037	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	658					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACCAGCCGGCGTGGCCTGTG	0.622000													26	62					0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91969019	91969019	+	RNA	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:91969019A>G	uc010fho.1	+	1		c.1350A>G								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		CCTCTGCCCCAGTGAGGTGTT	0.622000													3	33					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5437298	5437298	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:5437298C>T	uc002gci.3	-	8	3526	c.2971G>A	c.(2971-2973)Gtg>Atg	p.V991M	NLRP1_uc002gcg.1_Missense_Mutation_p.V991M|NLRP1_uc002gch.4_Missense_Mutation_p.V991M|NLRP1_uc002gck.3_Missense_Mutation_p.V991M|NLRP1_uc002gcj.3_Missense_Mutation_p.V961M|NLRP1_uc002gcl.3_Missense_Mutation_p.V961M|NLRP1_uc010clh.3_Missense_Mutation_p.V991M	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	991					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGGTCATCACACTTGGTTTC	0.498000													14	303					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17394316	17394316	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17394316G>A	uc011mix.2	+	0	774	c.436G>A	c.(436-438)Gct>Act	p.A146T	NHS_uc004cxx.3_Missense_Mutation_p.A146T	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	146						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGCCCGGCACGCTTGCAGCCT	0.726000													10	13					0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174777827	174777827	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:174777827T>C	uc002uig.3	-	5	2531	c.2000A>G	c.(1999-2001)gAa>gGa	p.E667G	SP3_uc002uie.3_Missense_Mutation_p.E599G|SP3_uc002uif.3_Missense_Mutation_p.E614G|SP3_uc010zel.2_Missense_Mutation_p.E664G	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	667					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCTCTGTAATTCATCACTTCG	0.378000													11	44					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10368903	10368903	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:10368903G>T	uc002gmn.3	-	4	472	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	121	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACACAGAAGAGGCCCGAGTAG	0.552000													17	138					1.99824e-07	2.15435e-07	1	1	0
IRS4	8471	broad.mit.edu	37	X	107978515	107978515	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:107978515G>T	uc004eoc.2	-	0	1093	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	354						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGACAGCAGGGTTAACAGG	0.612000													5	415					0.014758	0.0150859	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154395932	154395932	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:154395932A>T	uc010jih.1	+	0	2673	c.2513A>T	c.(2512-2514)cAg>cTg	p.Q838L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	838	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGACCTACAGCAGAAGCTG	0.433000													4	59					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3898784	3898784	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:3898784C>T	uc003zhx.1	-	6	2748	c.2035G>A	c.(2035-2037)Gtg>Atg	p.V679M	GLIS3_uc010mhf.1_Missense_Mutation_p.V73M|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.V524M|GLIS3_uc003zhy.1_Missense_Mutation_p.V457M|GLIS3_uc003zhz.1_Missense_Mutation_p.V457M|GLIS3-AS1_uc003zia.3_Non-coding_Transcript	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	524					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGGACTGCACGGTGAGGCAA	0.592000													10	63					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1798390	1798390	+	Splice_Site	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1798390G>A	uc002fto.2	+	16	1861	c.1746_splice	c.e16+1	p.N582_splice		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	582					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GACCTACAACGTAAGTAAGGG	0.493000								Nucleotide excision repair (NER)					40	64					0	0	1	0	0
MRPL50	54534	broad.mit.edu	37	9	104160861	104160861	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:104160861G>C	uc004bbe.2	-	0	59	c.14C>G	c.(13-15)tCt>tGt	p.S5C	MRPL50_uc011lvj.2_Missense_Mutation_p.S5C|ZNF189_uc022bld.1_5'Flank|ZNF189_uc004bbg.1_5'Flank|ZNF189_uc004bbh.1_5'Flank|ZNF189_uc004bbi.1_5'Flank|ZNF189_uc011lvk.1_5'Flank	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN	Homo sapiens mitochondrial ribosomal protein L50 (MRPL50), nuclear gene encoding mitochondrial protein, mRNA.	5						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GCCCGACACAGATCGCGCCGC	0.547000													14	97					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101598285	101598285	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:101598285T>A	uc002bwr.3	+	28	4937	c.4618T>A	c.(4618-4620)Ttc>Atc	p.F1540I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1540					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGACAGCCTTCTTCTCATC	0.577000													4	87					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67266176	67266176	+	Missense_Mutation	SNP	C	C	T	rs151117956	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:67266176C>T	uc001olx.3	-	8	1564	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.A459T|PITPNM1_uc001olz.3_Missense_Mutation_p.A459T	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	459					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.S458P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCTCGAAGGCGGAGCTCAGC	0.662000													56	92					0	0	1	0	0
GPM6B	2824	broad.mit.edu	37	X	13795537	13795537	+	Silent	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:13795537A>G	uc004cvw.3	-	5	996	c.705T>C	c.(703-705)atT>atC	p.I235I	GPM6B_uc004cvx.3_Silent_p.I176I|GPM6B_uc011min.1_Silent_p.I109I|GPM6B_uc004cwa.2_Silent_p.I176I|GPM6B_uc011mim.2_Silent_p.I209I|GPM6B_uc004cvy.2_Silent_p.I235I|GPM6B_uc004cvz.2_Silent_p.I195I	NM_001001995	NP_001001995	Q13491	GPM6B_HUMAN	Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.	195					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CATTCCAAGGAATGATACCTG	0.438000													3	37					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33444650	33444650	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:33444650C>T	uc002nty.3	-	3	452	c.363G>A	c.(361-363)ctG>ctA	p.L121L	CEP89_uc002ntx.3_5'UTR|CEP89_uc010edg.3_Non-coding_Transcript|CEP89_uc002nua.3_Silent_p.L121L|CEP89_uc002nub.1_Silent_p.L13L	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	121						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCCCATAGTCCAGTGTTTCAA	0.478000													6	62					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150160	34150160	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:34150160G>A	uc004ddg.3	-	0	288	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	79								p.L78L(1)		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						AGATATTTTGGGGAGTAAAAA	0.532000													45	100					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631823	32631823	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:32631823C>T	uc003zrg.1	-	0	3845	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1252					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.R1252W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCGCTTAAGCCGCCTCAGTTG	0.448000													15	74					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124740574	124740574	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:124740574C>T	uc001qbc.3	+	5	1152	c.983C>T	c.(982-984)gCg>gTg	p.A328V		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	328	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCTGTGTGGCGGAGAACAGT	0.602000													3	35					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	26					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173726268	173726268	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:173726268A>T	uc001gjc.3	+	6	1300	c.1121A>T	c.(1120-1122)gAt>gTt	p.D374V	KLHL20_uc010pmr.2_Missense_Mutation_p.D185V|KLHL20_uc009wwf.3_Missense_Mutation_p.D356V	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	374					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGAGGCCATGATGGATCCTCT	0.383000													4	121					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674159	3674159	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:3674159C>A	uc002wja.3	-	12	3443	c.3443G>T	c.(3442-3444)cGc>cTc	p.R1148L	SIGLEC1_uc002wiz.4_Missense_Mutation_p.R1148L|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1148	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Y1147*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACACCGCAGCGGTAGGAGGT	0.657000													3	40					0.115264	0.116105	1	1	0
TRMT5	57570	broad.mit.edu	37	14	61446302	61446302	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:61446302A>C	uc001xff.4	-	1	405	c.314T>G	c.(313-315)aTa>aGa	p.I105R	SLC38A6_uc001xfg.2_5'Flank|SLC38A6_uc001xfh.2_5'Flank|SLC38A6_uc001xfi.3_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.3_5'Flank|SLC38A6_uc010trz.2_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	105						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTTACTGACTATTTCTTTCCT	0.408000													19	136					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120594273	120594273	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:120594273C>T	uc001txo.3	-	27	3317	c.3304G>A	c.(3304-3306)Gtg>Atg	p.V1102M	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1102					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCGGAGCACGGTTTCCCGC	0.577000													13	60					0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120417392	120417392	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:120417392T>A	uc003edx.3	-	4	442	c.412A>T	c.(412-414)Aac>Tac	p.N138Y		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	138	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		GGTATTTGGTTATCAGCAAAC	0.363000													73	157					0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797370	20797370	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr13:20797370C>T	uc001und.4	-	2	637	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	GJB6_uc001umz.4_Missense_Mutation_p.V84I|GJB6_uc001unb.4_Missense_Mutation_p.V84I|GJB6_uc001unc.4_Missense_Mutation_p.V84I|GJB6_uc001una.4_Missense_Mutation_p.V84I|GJB6_uc021rhb.1_Missense_Mutation_p.V84I	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	84					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GGGGTGGAGACGAAGATCAGC	0.552000													8	43					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337523	104337523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:104337523C>T	uc003ylh.3	+	3	1479	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FZD6_uc011lhn.2_Nonsense_Mutation_p.R365*|FZD6_uc003ylj.3_Nonsense_Mutation_p.R397*|FZD6_uc011lho.2_Nonsense_Mutation_p.R92*|FZD6_uc011lhp.2_Nonsense_Mutation_p.R342*	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	397					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R397Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAATCATGTTCGACAAGTCAT	0.418000													5	202					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105187664	105187664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:105187664G>A	uc003vda.1	+	5	954	c.723G>A	c.(721-723)tgG>tgA	p.W241*	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	241	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGCTTCATTGGCCATTCATCG	0.433000													5	151					0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779890	20779890	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:20779890A>G	uc021rnp.1	-	6	1264	c.653T>C	c.(652-654)tTg>tCg	p.L218S	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.L218S|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.L218S|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.L218S|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.L218S	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	218						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGTATTATCCAAAGGAAACTT	0.388000			T	HMGA2	leiomyoma								37	42					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630950	74630950	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:74630950G>A	uc002axt.2	-	7	1551	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	CYP11A1_uc002axs.2_Missense_Mutation_p.R308W|CYP11A1_uc010bjm.1_Missense_Mutation_p.R308W|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	466					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCAGCGATCCGCCGTCCCAGA	0.557000													4	156					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957836	49957836	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:49957836G>T	uc004dow.1	-	4	1652	c.1528C>A	c.(1528-1530)Caa>Aaa	p.Q510K	AKAP4_uc004dou.1_Missense_Mutation_p.Q501K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.Q332K	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	510					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGCTTTTGGTTCCAGATG	0.453000													7	147					0.00307968	0.00319546	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1578465	1578465	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1578465T>C	uc002fte.3	-	19	3155	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1014						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATGACGACGTTGTTCTTGGC	0.507000													17	39					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47571515	47571515	+	Missense_Mutation	SNP	C	C	T	rs142358848		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:47571515C>T	uc002zig.3	-	4	637	c.593G>A	c.(592-594)cGc>cAc	p.R198H	FTCD_uc002zif.3_Missense_Mutation_p.R198H|FTCD_uc002zih.3_Missense_Mutation_p.R198H|FTCD_uc010gqf.3_Missense_Mutation_p.R198H|FTCD_uc010gqg.1_Missense_Mutation_p.R67H			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	198	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAGCGCGATGCGGTGGGCTTG	0.642000													4	129					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10529180	10529180	+	Silent	SNP	G	G	A	rs142352495	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:10529180G>A	uc010joo.3	+	2	587	c.36G>A	c.(34-36)gcG>gcA	p.A12A	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Silent_p.A11A	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	12						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTTTAGCGCGTCTCTTATCT	0.388000													11	90					0	0	1	0	0
GTPBP8	29083	broad.mit.edu	37	3	112709901	112709901	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:112709901G>A	uc003dzn.3	+	0	102	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	GTPBP8_uc003dzp.2_Non-coding_Transcript|GTPBP8_uc003dzo.3_Missense_Mutation_p.V19M	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	Homo sapiens GTP-binding protein 8 (putative) (GTPBP8), transcript variant 1, mRNA.	19					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AATGCCTGCGGTGCTAGAGCG	0.607000													38	37					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35198139	35198139	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:35198139C>T	uc001mvu.3	+	1	519	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	CD44_uc021qfw.1_Missense_Mutation_p.R29C|CD44_uc001mvv.3_Missense_Mutation_p.R29C|CD44_uc001mvw.3_Missense_Mutation_p.R29C|CD44_uc001mwc.4_Missense_Mutation_p.R29C|CD44_uc001mvx.3_Missense_Mutation_p.R29C|CD44_uc010rer.2_Missense_Mutation_p.R29C|CD44_uc001mvy.3_Missense_Mutation_p.R29C|CD44_uc009ykh.3_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	29					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TATAACCTGCCGCTTTGCAGG	0.433000													19	29					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75441910	75441910	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:75441910T>C	uc004aiz.1	+	21	2669	c.2129_splice	c.e21+1	p.V710_splice	TMC1_uc010moz.1_Splice_Site_p.V668_splice|TMC1_uc004aja.1_Splice_Site|TMC1_uc004ajb.1_Splice_Site|TMC1_uc004ajc.1_Splice_Site_p.V564_splice|TMC1_uc010mpa.1_Splice_Site_p.V564_splice	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	710					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTGGTGATGGTGTATGTGCTT	0.473000													35	230					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533908	55533908	+	Missense_Mutation	SNP	C	C	G	rs147116231	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:55533908C>G	uc003xsd.1	+	1	530	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V	RP1_uc011ldy.1_Missense_Mutation_p.L128V	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	128					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)			GCGGCCCTGGCTCAGCAGCCG	0.697000													6	184					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24791275	24791275	+	Silent	SNP	G	G	A	rs79119787		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:24791275G>A	uc001wow.3	-	19	3002	c.2583C>T	c.(2581-2583)aaC>aaT	p.N861N	ADCY4_uc010toh.2_Silent_p.N547N|ADCY4_uc001wox.3_Silent_p.N861N|ADCY4_uc001woy.3_Silent_p.N861N	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	861					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAGTCACCTCGTTGCGCCGGT	0.587000													6	164					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235199	100235199	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:100235199C>T	uc003hus.4	-	5	691	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	ADH1B_uc003hut.4_Missense_Mutation_p.G163R|ADH1B_uc011ceh.2_Missense_Mutation_p.G48R|ADH1B_uc011cei.1_Missense_Mutation_p.G163R	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	203					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGGCCGACCCCTCCCAGGCCA	0.468000													6	309					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31318363	31318363	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:31318363C>T	uc021sia.1	-	25	3973	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	TRPM1_uc010azy.3_Missense_Mutation_p.R1088H|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1203H|TRPM1_uc001zfm.3_Missense_Mutation_p.R1181H	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1181					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GACCCGGATGCGCTCGTCGCT	0.632000													7	61					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613294	72613294	+	Silent	SNP	G	G	A	rs77873791	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:72613294G>A	uc002jlb.2	-	1	488	c.351C>T	c.(349-351)cgC>cgT	p.R117R		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	117	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.R117H(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCGAGGGATCGCGTGACCATG	0.537000													5	102					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:26880266G>A	uc001ist.3	+	1		c.501G>A								Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		ACCAAGCCCAGTGGACAGATG	0.443000													3	31					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160136482	160136482	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160136482C>T	uc001fve.4	+	7	1691	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	404					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGATATGACCGTGTATGAGG	0.562000													7	139					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167703	8167703	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:8167703C>T	uc003sro.4	-	12	1266	c.1130G>A	c.(1129-1131)aGt>aAt	p.S377N	ICA1_uc010ktr.3_Missense_Mutation_p.S406N|ICA1_uc003srm.3_Missense_Mutation_p.S377N|ICA1_uc003srn.4_Missense_Mutation_p.S303N|ICA1_uc003srq.3_Missense_Mutation_p.S377N|ICA1_uc003srr.3_Missense_Mutation_p.S376N|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	377					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAAGATCTCACTCAACAGCAG	0.542000													5	221					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186092329	186092329	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:186092329C>G	uc001grq.1	+	80	12705	c.12476C>G	c.(12475-12477)aCa>aGa	p.T4159R	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4159	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAGCAGCACAAGCACCAAG	0.493000													7	25					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29692052	29692052	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:29692052C>G	uc003nno.4	+	2	561	c.437C>G	c.(436-438)tCc>tGc	p.S146C	HLA-F_uc010jrl.3_Missense_Mutation_p.S146C|HLA-F_uc003nnm.4_Missense_Mutation_p.S146C|HLA-F_uc011dlx.1_Missense_Mutation_p.S146C|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	146	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATTACATCTCCCTGAACGAG	0.622000													8	178					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710720	140710720	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:140710720G>T	uc003lji.2	+	0	469	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	PCDHGC5_uc011dan.2_Missense_Mutation_p.G157W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	157	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTTTGGGCAAGACCT	0.458000													23	134					1.55795e-14	1.70632e-14	1	1	0
TINAG	27283	broad.mit.edu	37	6	54173456	54173456	+	Silent	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:54173456T>C	uc003pcj.2	+	0	254	c.108T>C	c.(106-108)acT>acC	p.T36T	TINAG_uc003pci.3_Silent_p.T36T|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	36					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTTATTTCACTAGGAATCACA	0.393000													14	107					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6701875	6701875	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:6701875G>A	uc001qpo.3	-	17	2925	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	CHD4_uc001qpn.3_Missense_Mutation_p.P914S|CHD4_uc001qpp.3_Missense_Mutation_p.P918S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	921	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AACCTCTCGGGGGTGAGAAAG	0.433000													9	84					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91503566	91503566	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:91503566T>C	uc001kgs.1	+	22	3988	c.3916_splice	c.e22-1	p.V1306_splice	KIF20B_uc001kgr.1_Splice_Site_p.V1266_splice|KIF20B_uc001kgt.1_Splice_Site_p.V517_splice|KIF20B_uc009xtw.1_Splice_Site	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1306					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTTTGTAGGTATCTGTAATG	0.284000													3	38					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824906	124824906	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:124824906G>A	uc021rga.1	-	35	5560	c.5443C>T	c.(5443-5445)Cgg>Tgg	p.R1815W	NCOR2_uc021rgb.1_Missense_Mutation_p.R1799W|NCOR2_uc010tbb.2_Missense_Mutation_p.R1808W|NCOR2_uc010tbc.2_Missense_Mutation_p.R1798W|NCOR2_uc021rgc.1_Missense_Mutation_p.R1798W|NCOR2_uc010tba.2_Missense_Mutation_p.R1816W|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1816					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGCTCCCGATCCCGGTCC	0.647000													25	43					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20907004	20907004	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:20907004T>C	uc009yid.3	+	5	758	c.605T>C	c.(604-606)gTg>gCg	p.V202A	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.V174A|NELL1_uc001mqf.3_Missense_Mutation_p.V174A|NELL1_uc010rdo.2_Missense_Mutation_p.V117A	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	174	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGAGCGTGTGATAGACCCT	0.433000													20	32					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45291949	45291949	+	Silent	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:45291949G>A	uc010olf.2	-	18	3099	c.3087C>T	c.(3085-3087)ggC>ggT	p.G1029G	PTCH2_uc021omv.1_Silent_p.G1029G|PTCH2_uc010olg.2_Silent_p.G727G	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1029					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGAACTCAACGCCAATGCCTA	0.542000									Basal Cell Nevus syndrome				20	20					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952327	85952327	+	Silent	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:85952327C>T	uc002fjh.3	+	6	963	c.906C>T	c.(904-906)aaC>aaT	p.N302N		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	302					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCAGCGGCAACGCCGTGGTGT	0.657000													8	45					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826500	13826500	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:13826500G>A	uc010xaf.2	+	0	958	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	246					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCTGCTGGGCGTGTTTACCGT	0.597000													9	169					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028371	59028371	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:59028371C>T	uc002qtd.3	-	1	962	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	ZBTB45_uc002qtf.3_Missense_Mutation_p.E224K	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E224V(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCGCCACCTTCGCCATCCTCG	0.662000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	332					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66361141	66361141	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:66361141C>A	uc003hcy.3	-	3	1224	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	EPHA5_uc003hcx.3_Missense_Mutation_p.R275M|EPHA5_uc003hcz.3_Missense_Mutation_p.R344M|EPHA5_uc011cah.2_Missense_Mutation_p.R344M|EPHA5_uc011cai.2_Missense_Mutation_p.R344M|EPHA5_uc003hda.2_Missense_Mutation_p.R344M	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	344	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGACTCTCTCCTGAAATAATC	0.463000										TSP Lung(17;0.13)			15	140					5.3912e-06	5.72297e-06	1	1	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:71346978T>C	uc011cat.2	+	3	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_uc011cau.2_Missense_Mutation_p.S173P|MUC7_uc003hfj.3_Missense_Mutation_p.S173P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	173	Thr-rich.					extracellular region	protein binding	p.S173P(6)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													5	256					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409585	159409586	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:159409585_159409586delAA	uc010piv.2	+	0	74_75	c.37_38delAA	c.(37-39)aaafs	p.K13fs	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	13					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCAATCCATGAAAAGAGAGAAC	0.386													13	85	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67327780	67327781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:67327780_67327781insG	uc002esu.2	-	11	1935_1936	c.1884_1885insC	c.(1882-1887)cccgccfs	p.P628fs	KCTD19_uc002est.2_Frame_Shift_Ins_p.P400fs|KCTD19_uc010vjj.1_Frame_Shift_Ins_p.P371fs	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	628						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.540													7	334	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:42793215_42793218delCAGT	uc002otf.1	+	6	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.D369fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"""Mis, F, S"""		oligodendroglioma								69	61	---	---	---	---					
LMTK3	114783	broad.mit.edu	37	19	48994758	48994758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:48994758delG	uc002pjk.3	-	13	4218	c.4218delC	c.(4216-4218)cccfs	p.P1406fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGTCCCCCTCGGGGGGGGCCT	0.662													2	4	---	---	---	---					
KCNJ15	3772	broad.mit.edu	37	21	39671497	39671497	+	Frame_Shift_Del	DEL	C	C	-	rs148451839	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:39671497delC	uc021wjc.1	+	0	314	c.314delC	c.(313-315)accfs	p.T105fs	KCNJ15_uc002ywv.3_Frame_Shift_Del_p.T105fs|KCNJ15_uc002yww.3_Frame_Shift_Del_p.T105fs|KCNJ15_uc002ywx.3_Frame_Shift_Del_p.T105fs	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	105					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCAAATCATACCCCCTGCATC	0.488													15	135	---	---	---	---					
