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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAM32A	26017	broad.mit.edu	37	19	16301697	16301698	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:16301697_16301698GG>AA	uc002ndt.3	+	4	290	c.271_splice	c.e4-1	p.D91_splice		NM_014077	NP_054796	Q9Y421	FA32A_HUMAN	Homo sapiens family with sequence similarity 32, member A (FAM32A), mRNA.	91						nucleolus				lung(1)	1						CACCTCCCCAGGACTTCAACAG	0.599000														47			36		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179633403	179633403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179633403C>T	uc021vsy.1	-	37	9385	c.9160G>A	c.(9160-9162)Gaa>Aaa	p.E3054K	TTN_uc021vsz.1_Missense_Mutation_p.E3008K|TTN_uc021vta.1_Missense_Mutation_p.E3008K|TTN_uc021vtb.1_Missense_Mutation_p.E3008K|TTN_uc002unb.2_Missense_Mutation_p.E3054K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3054							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATACCTTCCACATAAAGT	0.363000														10			11		0	0	0.001368	0	0
FBN1	2200	broad.mit.edu	37	15	48744865	48744865	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:48744865C>T	uc001zwx.2	-	44	5834	c.5439G>A	c.(5437-5439)caG>caA	p.Q1813Q	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1813	EGF-like 30; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGGGCCGTTCTGACACTCGT	0.502000														38			13		0	0	0.001368	0	0
EML5	161436	broad.mit.edu	37	14	89178746	89178746	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:89178746T>A	uc021ryf.1	-	9	1775	c.1526A>T	c.(1525-1527)aAt>aTt	p.N509I	EML5_uc021ryg.1_Missense_Mutation_p.N509I|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	509						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAAATTCCATTTACTTCAAG	0.348000														15			4		0	0	0.000602	0	0
GAGE10	643832	broad.mit.edu	37	X	49161358	49161358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49161358C>T	uc010nir.1	+	1	136	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	Homo sapiens G antigen 10 (GAGE10), mRNA.	7										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CGAGGAAGATCGACCTATCGG	0.453000														233			124		0	0	0.003610	0	0
OR7E24	26648	broad.mit.edu	37	19	9362536	9362536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9362536G>A	uc002mlb.1	+	0	817	c.817G>A	c.(817-819)Ggg>Agg	p.G273R		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTATGGAACAGGGCTTGTAGG	0.498000														25			10		0	0	0.001368	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923869	56923869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:56923869G>A	uc002adu.3	-	21	2984	c.2767C>T	c.(2767-2769)Cca>Tca	p.P923S	BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Missense_Mutation_p.P910S|ZNF280D_uc010bfq.3_Missense_Mutation_p.P923S|ZNF280D_uc002adt.3_Missense_Mutation_p.P164S|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	923					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ACCTCGGATGGAGTCAGAGGT	0.408000														40			37		0	0	0.004289	0	0
DLD	1738	broad.mit.edu	37	7	107545812	107545812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:107545812C>T	uc003vet.3	+	6	555	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Intron|DLD_uc011kmh.2_Missense_Mutation_p.H126Y|DLD_uc011kmi.2_Missense_Mutation_p.H50Y	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	149					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AAAGGTTGTTCATGTCAATGG	0.294000														63			9		0	0	0.004482	0	0
ACMSD	130013	broad.mit.edu	37	2	135621190	135621190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:135621190C>T	uc002ttz.3	+	4	542	c.475C>T	c.(475-477)Cct>Tct	p.P159S	ACMSD_uc002tua.3_Missense_Mutation_p.P101S	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	159					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGAGCTCTTTCCTGTCTATGC	0.652000														33			16		0	0	0.004990	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587113	15587113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15587113G>A	uc002nbg.3	-	1	501	c.368C>T	c.(367-369)cCt>cTt	p.P123L	PGLYRP2_uc002nbf.4_Missense_Mutation_p.P123L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	123					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGCCAGCAGAGGCTCCACAGC	0.612000														93			68		0	0	0.003610	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275631	32275631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:32275631C>T	uc011alu.2	+	37	4128	c.3926C>T	c.(3925-3927)cCt>cTt	p.P1309L	DEPDC5_uc011als.2_Missense_Mutation_p.P1209L|DEPDC5_uc003als.3_Missense_Mutation_p.P1278L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P1300L|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.P727L|DEPDC5_uc003alw.3_Missense_Mutation_p.P576L|DEPDC5_uc011alx.2_Missense_Mutation_p.P126L|DEPDC5_uc010gwk.3_Missense_Mutation_p.P304L|DEPDC5_uc011aly.2_Missense_Mutation_p.P126L	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1278					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCTGAGATTCCTGCCTTTCTC	0.602000														72			16		0	0	0.004007	0	0
C17orf57	124989	broad.mit.edu	37	17	45451971	45451971	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:45451971G>A	uc002iln.3	+	11	1442	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	C17orf57_uc002ilm.3_Silent_p.K241K|C17orf57_uc002ill.1_Silent_p.K93K|C17orf57_uc010daz.1_Silent_p.K289K	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	337							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TATCCAAAAAGTTAAATAAAA	0.299000														25			40		0	0	0.007835	0	0
TRIP11	9321	broad.mit.edu	37	14	92471348	92471348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:92471348G>A	uc001xzy.3	-	10	3346	c.2972C>T	c.(2971-2973)tCt>tTt	p.S991F	TRIP11_uc010auf.2_Missense_Mutation_p.S727F	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	991					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAAATATCAGAGTTATCTGT	0.313000			T	PDGFRB	AML									47			16		0	0	0.006122	0	0
MNT	4335	broad.mit.edu	37	17	2290772	2290772	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:2290772A>G	uc002fur.3	-	5	1424	c.1172T>C	c.(1171-1173)cTa>cCa	p.L391P		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	391					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		ggcaggaggtagggccacgga	0.716000														55			23		0	0	0.001882	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907332	164907332	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:164907332C>T	uc003fej.4	-	1	1731	c.1287G>A	c.(1285-1287)tgG>tgA	p.W429*	SLITRK3_uc003fek.3_Nonsense_Mutation_p.W429*|SLITRK3_uc021xgy.1_Nonsense_Mutation_p.W429*	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	429						integral to membrane		p.W429fs*30(1)|p.W429fs*36(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGAAAAATTCCAAAAATCAG	0.393000										HNSCC(40;0.11)				36			23		0	0	0.002299	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343568	38343568	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:38343568C>T	uc010qev.2	+	3	638	c.534C>T	c.(532-534)gcC>gcT	p.A178A	ZNF33A_uc001izg.3_Silent_p.A172A|ZNF33A_uc001izh.3_Silent_p.A171A|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.A172A	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AATTTAATGCCTGTGGGAAAT	0.328000														3			3		0	0	0.004672	0	0
IL32	9235	broad.mit.edu	37	16	3117475	3117475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3117475C>T	uc002ctq.3	+	2	208	c.113C>T	c.(112-114)aCt>aTt	p.T38I	IL32_uc002ctn.3_Intron|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Missense_Mutation_p.T38I|IL32_uc010uwp.2_Intron|IL32_uc010btb.3_Intron|IL32_uc002ctl.3_Intron|IL32_uc002ctm.3_Intron|IL32_uc002ctp.3_Intron|IL32_uc010uwq.1_Missense_Mutation_p.T38I|IL32_uc002ctr.3_Intron|IL32_uc002ctt.3_Intron|IL32_uc010uwr.2_Intron|IL32_uc002ctu.3_Intron|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	38					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GCGTGTGACACTGAGGACACT	0.572000														78			30		0	0	0.002096	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410475	105410475	+	Silent	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:105410475C>G	uc010axc.1	-	6	11433	c.11313G>C	c.(11311-11313)gtG>gtC	p.V3771V	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V3671V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3771						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGACGTCCACCTCCACGC	0.592000														147			141		0	0	0.003610	0	0
C14orf102	55051	broad.mit.edu	37	14	90784408	90784408	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:90784408G>A	uc001xyi.2	-	1	347	c.114C>T	c.(112-114)tcC>tcT	p.S38S	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	38							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GTTGGCTCAGGGACGTTATGG	0.423000														153			48		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113402906	113402906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:113402906C>T	uc003ynu.3	-	35	6080	c.5921G>A	c.(5920-5922)gGa>gAa	p.G1974E	CSMD3_uc003yns.3_Missense_Mutation_p.G1176E|CSMD3_uc003ynt.3_Missense_Mutation_p.G1934E|CSMD3_uc011lhx.2_Missense_Mutation_p.G1870E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1974	CUB 11.					integral to membrane|plasma membrane		p.E1973D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATGCCAGCTCCCTCTGGCAC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				38			44		0	0	0.003610	0	0
ALB	213	broad.mit.edu	37	4	74270853	74270853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74270853C>T	uc003hgs.4	+	1	173	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.R34W|ALB_uc011cbf.2_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	34	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGTTGCTCATCGGTTTAAAGA	0.279000														64			50		0	0	0.003610	0	0
PPFIA1	8500	broad.mit.edu	37	11	70194462	70194462	+	Missense_Mutation	SNP	C	T	T	rs145476630		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:70194462C>T	uc001opo.3	+	15	2314	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	PPFIA1_uc001opn.2_Missense_Mutation_p.S700F|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	700					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGTGGGCGCTCCACCCCACGA	0.602000														55			82		0	0	0.003610	0	0
LAMB2	3913	broad.mit.edu	37	3	49169618	49169618	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49169618G>A	uc003cwe.3	-	3	689	c.390C>T	c.(388-390)atC>atT	p.I130I	LAMB2_uc003cwf.1_Silent_p.I130I	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	130	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGACCGCAGGGATACCTGGGA	0.557000														46			15		0	0	0.003163	0	0
MDC1	9656	broad.mit.edu	37	6	30673682	30673682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:30673682G>A	uc003nrg.4	-	9	3718	c.3278C>T	c.(3277-3279)cCc>cTc	p.P1093L	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P700L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1093	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGAGGACAAGGGAGCCTCTGG	0.537000								Other conserved DNA damage response genes						218			81		0	0	0.003610	0	0
ITGB1	3688	broad.mit.edu	37	10	33201026	33201026	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:33201026T>A	uc001iws.4	-	11	1632	c.1496A>T	c.(1495-1497)cAt>cTt	p.H499L	ITGB1_uc001iwr.4_Missense_Mutation_p.H499L|ITGB1_uc001iwt.4_Missense_Mutation_p.H499L	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	499	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GCATTCACAATGTCTACCAAC	0.408000														2			6		0	0	0.001984	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41277848	41277848	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:41277848G>T	uc003azh.3	+	2	357	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	XPNPEP3_uc011aox.2_Nonsense_Mutation_p.E86*|XPNPEP3_uc003azi.3_Nonsense_Mutation_p.E7*|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	86					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GATCCAGAAGGAAGCTCAAGG	0.463000														39			11		1.08611e-07	2.0622e-07	0.000978	1	0
TDRD9	122402	broad.mit.edu	37	14	104452583	104452583	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104452583G>A	uc001yom.4	+	7	1071	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V	TDRD9_uc001yon.4_Silent_p.V85V	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	347					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGAACCGGTGATAACTAAGG	0.413000														21			21		0	0	0.005443	0	0
AMICA1	120425	broad.mit.edu	37	11	118071226	118071226	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:118071226G>A	uc001psk.2	-	6	1048	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	AMICA1_uc001psg.2_Silent_p.L102L|AMICA1_uc001psh.2_Silent_p.L253L|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.L282L|AMICA1_uc010rxw.1_Silent_p.L253L|AMICA1_uc010rxx.1_Silent_p.L292L|AMICA1_uc001psl.1_Silent_p.L248L	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	292					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCAATATCAGAACAGGGAGC	0.557000														36			9		0	0	0.006214	0	0
NLRP5	126206	broad.mit.edu	37	19	56539477	56539477	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:56539477C>T	uc002qmj.3	+	6	1878	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	NLRP5_uc002qmi.3_Silent_p.F607F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	626						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)		AGGCAGGCTTCCATATCCACT	0.552000														22			46		0	0	0.003610	0	0
FAM123B	139285	broad.mit.edu	37	X	63411497	63411497	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:63411497T>A	uc022byb.1	-	0	1670	c.1670A>T	c.(1669-1671)gAg>gTg	p.E557V	FAM123B_uc004dvo.3_Missense_Mutation_p.E557V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	557					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)|p.E557fs*22(2)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CCGTTCTTCCTCTGTCTCCAT	0.552000														66			16		0	0	0.006122	0	0
TRPV6	55503	broad.mit.edu	37	7	142572683	142572683	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142572683G>A	uc003wbx.2	-	9	1489	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	TRPV6_uc003wbw.1_Silent_p.I206I|TRPV6_uc010lou.1_Silent_p.I291I	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	420					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCCCCCAAGGATGGTCTGTC	0.542000														125			37		0	0	0.002522	0	0
LARP1B	55132	broad.mit.edu	37	4	129120747	129120748	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:129120747_129120748CC>TT	uc003iga.3	+	15	2288_2289	c.2157_2158CC>TT	c.(2155-2160)tgccta>tgTTta	p.719_720CL>CL	LARP1B_uc003igc.3_Silent_p.138_139CL>CL|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Non-coding_Transcript|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_5'UTR	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	719							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTCGAAGATGCCTAAGTGGTAA	0.312000														6			6		0	0	0.004672	0	0
MRPL23	6150	broad.mit.edu	37	11	1977612	1977613	+	Missense_Mutation	DNP	CC	TT	TT	rs140352683	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1977612_1977613CC>TT	uc001lux.3	+	4	515_516	c.424_425CC>TT	c.(424-426)ccg>TTg	p.P142L		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	142					translation	mitochondrial large ribosomal subunit	RNA binding|nucleotide binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GAGCAGCGACCCGCGGCGGGGC	0.703000														19			40		0	0	0.004672	0	0
APOBEC1	339	broad.mit.edu	37	12	7803718	7803718	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7803718C>T	uc001qtb.3	-	3	496	c.462G>A	c.(460-462)agG>agA	p.R154R	APOBEC1_uc001qtc.3_Silent_p.R109R	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	154					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding	p.R154S(2)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGACAAAATTCCTCCAGCAGT	0.448000														32			58		0	0	0.003610	0	0
SETD3	84193	broad.mit.edu	37	14	99865423	99865423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:99865423G>A	uc001ygc.3	-	12	1548	c.1378C>T	c.(1378-1380)Cgt>Tgt	p.R460C		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	460					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTTTGCACGAACAGAAAGA	0.388000														56			43		0	0	0.003610	0	0
ADAM21	8747	broad.mit.edu	37	14	70925121	70925121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70925121C>T	uc021rvq.1	+	0	905	c.905C>T	c.(904-906)tCa>tTa	p.S302L	ADAM21_uc001xmd.3_Missense_Mutation_p.S302L	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	302	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.S302*(3)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATAAAAAATTCACTTATAAGT	0.383000														83			21		0	0	0.003330	0	0
ECE2	9718	broad.mit.edu	37	3	183995169	183995169	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:183995169G>A	uc003fni.4	+	3	785	c.747G>A	c.(745-747)agG>agA	p.R249R	ECE2_uc011brg.1_Silent_p.R177R|ECE2_uc011brh.1_Silent_p.R102R|ECE2_uc003fnl.4_Silent_p.R177R|ECE2_uc003fnm.4_Silent_p.R131R|ECE2_uc003fnk.4_Silent_p.R102R|ECE2_uc011bri.1_Silent_p.R164R|ECE2_uc010hxv.3_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	249	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGATTCGGAGGAACCCCCTGC	0.592000														25			38		0	0	0.007835	0	0
KCNB1	3745	broad.mit.edu	37	20	48098870	48098870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:48098870C>T	uc002xur.1	-	0	314	c.148G>A	c.(148-150)Gac>Aac	p.D50N	KCNB1_uc002xus.1_Missense_Mutation_p.D50N	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	50					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCAGGCGGTCCAGGGTACGC	0.692000														29			8		0	0	0.000978	0	0
TPTE	7179	broad.mit.edu	37	21	10934955	10934955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:10934955G>A	uc002yip.1	-	14	1206	c.838C>T	c.(838-840)Cga>Tga	p.R280*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R262*|TPTE_uc002yir.1_Nonsense_Mutation_p.R242*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R142*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	280	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R262*(2)|p.R280M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGTAGACTCGATAGTGGTTT	0.333000														83			11		0	0	0.001368	0	0
OR1D5	8386	broad.mit.edu	37	17	2966866	2966866	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:2966866G>A	uc021tns.1	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						CCAGGAGAAGGAACTGTGAGT	0.463000														1			7		0	0	0.003080	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912749	54912749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:54912749G>A	uc001sgc.4	+	14	1551	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	NCKAP1L_uc010sox.2_Missense_Mutation_p.R33H|NCKAP1L_uc010soy.2_Missense_Mutation_p.R441H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	491					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.R491H(4)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GACTGGTTCCGCCTACAGGTA	0.388000														7			14		0	0	0.002450	0	0
LCT	3938	broad.mit.edu	37	2	136569973	136569973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:136569973C>T	uc002tuu.1	-	6	2272	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	754	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATGCCATTCCCGGCAAGGTA	0.443000														79			39		0	0	0.004878	0	0
RTN1	6252	broad.mit.edu	37	14	60193723	60193723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60193723G>A	uc001xen.1	-	2	1888	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	RTN1_uc001xem.1_Missense_Mutation_p.S140F	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	560					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACTTTGGTTGGAACTCGAGTC	0.617000														20			10		0	0	0.006214	0	0
DCTN2	10540	broad.mit.edu	37	12	57924491	57924491	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57924491A>G	uc021qzn.1	-	15	1334	c.1202T>C	c.(1201-1203)aTg>aCg	p.M401T	DCTN2_uc001som.1_Missense_Mutation_p.M396T|DCTN2_uc009zpv.1_Missense_Mutation_p.M309T|DCTN2_uc009zpw.1_Missense_Mutation_p.M309T	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	396					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CAGCTTCTTCATCCGTTCATC	0.483000														96			48		0	0	0.003610	0	0
BCL2L2-PABPN1	100529063	broad.mit.edu	37	14	23777111	23777111	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23777111C>T	uc001wjh.4	+	2	364	c.135C>T	c.(133-135)gcC>gcT	p.A45A	BCL2L2-PABPN1_uc001wjg.4_Silent_p.A45A|BCL2L2-PABPN1_uc021rqx.1_Silent_p.A45A|BCL2L2-PABPN1_uc001wji.4_Silent_p.A45A	NM_001199864	NP_001186793			Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																		TGCACCAAGCCATGCGGGCAG	0.622000														46			41		0	0	0.006230	0	0
C3P1	388503	broad.mit.edu	37	19	10165958	10165958	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10165958G>A	uc010dwx.2	+	14		c.1821G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GAGTTCAGACGGCACCTACCA	0.597000														45			10		0	0	0.003163	0	0
RNF145	153830	broad.mit.edu	37	5	158601054	158601054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:158601054G>A	uc010jiq.2	-	5	974	c.824C>T	c.(823-825)tCc>tTc	p.S275F	RNF145_uc011ddy.2_Missense_Mutation_p.S259F|RNF145_uc003lxo.2_Missense_Mutation_p.S273F|RNF145_uc011ddz.2_Missense_Mutation_p.S262F|RNF145_uc003lxp.3_Missense_Mutation_p.S245F|RNF145_uc011dea.2_Missense_Mutation_p.S261F	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	245						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGAAATAGGAGTAAATCTG	0.413000														16			6		0	0	0.001168	0	0
MIOS	54468	broad.mit.edu	37	7	7612814	7612814	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:7612814C>T	uc003srf.3	+	3	1016	c.708C>T	c.(706-708)ttC>ttT	p.F236F	MIOS_uc010ktp.1_Silent_p.F236F	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	236										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCCATATTTCCACGATCGTG	0.408000														79			51		0	0	0.003610	0	0
TBC1D21	161514	broad.mit.edu	37	15	74177174	74177174	+	Silent	SNP	C	T	T	rs141524942	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74177174C>T	uc002avz.3	+	4	503	c.420C>T	c.(418-420)atC>atT	p.I140I	TBC1D21_uc010ulc.2_Silent_p.I104I	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	140	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACGTCCTCATCGACAAGAAGA	0.547000														19			18		0	0	0.004656	0	0
C2orf71	388939	broad.mit.edu	37	2	29294311	29294311	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:29294311C>T	uc002rmt.2	-	0	2817	c.2817G>A	c.(2815-2817)ggG>ggA	p.G939G		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	939					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GACTCCAAGTCCCACCCTTCA	0.667000														47			19		0	0	0.002299	0	0
NCLN	56926	broad.mit.edu	37	19	3193407	3193407	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3193407C>T	uc002lxi.3	+	2	655	c.501C>T	c.(499-501)ggC>ggT	p.G167G	NCLN_uc002lxh.1_Non-coding_Transcript	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	167					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCAGGGCTCCGCCTCTG	0.692000														40			10		0	0	0.001855	0	0
ATP2A2	488	broad.mit.edu	37	12	110778711	110778711	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:110778711T>G	uc001tqk.4	+	13	2572	c.2009T>G	c.(2008-2010)cTg>cGg	p.L670R	ATP2A2_uc001tql.4_Missense_Mutation_p.L670R|ATP2A2_uc021rdt.1_Missense_Mutation_p.L518R	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	670					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GACGCCTGCCTGAACGCCCGC	0.517000														43			15		0	0	0.003163	0	0
KRT77	374454	broad.mit.edu	37	12	53096893	53096893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53096893C>T	uc001saw.3	-	0	355	c.326G>A	c.(325-327)gGa>gAa	p.G109E	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	109	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AAAACCACCTCCTCCAAAGCC	0.597000														18			5		0	0	0.000602	0	0
KLRG1	10219	broad.mit.edu	37	12	9162098	9162098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:9162098C>T	uc001qvh.3	+	4	546	c.535C>T	c.(535-537)Cct>Tct	p.P179S	KLRG1_uc001qvg.3_Missense_Mutation_p.P179S	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	179	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGTGAAGTTCCTTTACACTG	0.443000														11			6		0	0	0.001168	0	0
FAT2	2196	broad.mit.edu	37	5	150948504	150948504	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:150948504C>T	uc003lue.4	-	1	1	c.-12_splice	c.e1-1		FAT2_uc010jhx.1_Splice_Site	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.						epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGAAAACTCCCGAAACCCT	0.473000														27			26		0	0	0.005443	0	0
MFSD11	79157	broad.mit.edu	37	17	74740454	74740454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:74740454G>A	uc002jta.2	+	7	1520	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	MFSD11_uc002jtd.4_Missense_Mutation_p.G183R|MFSD11_uc002jtb.3_Missense_Mutation_p.G183R|MFSD11_uc002jtc.3_Missense_Mutation_p.G183R|MFSD11_uc002jte.3_Missense_Mutation_p.G183R|MFSD11_uc010dhb.3_Missense_Mutation_p.G131R|MFSD11_uc010dha.3_Missense_Mutation_p.G131R	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	183						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TAGCCTTGTGGGGACAGTTCT	0.418000														59			26		0	0	0.005443	0	0
VPS13C	54832	broad.mit.edu	37	15	62212401	62212401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:62212401G>A	uc002agz.3	-	56	7433	c.7342C>T	c.(7342-7344)Cct>Tct	p.P2448S	VPS13C_uc002aha.3_Missense_Mutation_p.P2405S|VPS13C_uc002ahb.2_Missense_Mutation_p.P2448S|VPS13C_uc002ahc.2_Missense_Mutation_p.P2405S|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2448					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTTCTCAGGGAAGCCCATT	0.413000														87			18		0	0	0.001216	0	0
RAB27B	5874	broad.mit.edu	37	18	52555245	52555245	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:52555245T>C	uc002lfr.3	+	4	606	c.363T>C	c.(361-363)gcT>gcC	p.A121A		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	121					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AAGCAAATGCTTATTGTGAAA	0.408000														9			4		0	0	0.000248	0	0
OR51B6	390058	broad.mit.edu	37	11	5373327	5373327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5373327C>T	uc010qzb.2	+	0	590	c.590C>T	c.(589-591)cCa>cTa	p.P197L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTCTCTATCCAGTTGTAGTT	0.433000														14			37		0	0	0.004289	0	0
CR1	1378	broad.mit.edu	37	1	207700172	207700172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:207700172G>A	uc001hfy.3	+	5	1101	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.E321K|CR1_uc021pij.1_Missense_Mutation_p.E321K|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.E321K	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	321	Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCTGGGCAGGAAGTGTTCTA	0.582000														87			23		0	0	0.006320	0	0
USP43	124739	broad.mit.edu	37	17	9583586	9583586	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:9583586G>A	uc010cod.3	+	5	1008	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	USP43_uc002gma.4_Silent_p.R25R|USP43_uc010vva.2_Silent_p.R336R|USP43_uc010coe.3_Silent_p.R133R	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	336					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GATTCCAGCGGTCTTTCTTTG	0.438000														44			24		0	0	0.002780	0	0
PI4KB	5298	broad.mit.edu	37	1	151276087	151276087	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:151276087G>A	uc001exr.3	-	6	2125	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	PI4KB_uc001exs.3_Nonsense_Mutation_p.Q469*|PI4KB_uc001exu.3_Nonsense_Mutation_p.Q469*|PI4KB_uc010pcw.2_Nonsense_Mutation_p.Q152*|PI4KB_uc001ext.3_Nonsense_Mutation_p.Q484*|Metazoa_SRP_uc021oyp.1_5'Flank	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	484					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGAGAACTGGGAGATGTTG	0.542000														188			53		0	0	0.003610	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50416866	50416866	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:50416866C>T	uc003daq.3	-	10	1187	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	CACNA2D2_uc003dap.3_Silent_p.Q383Q	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	383	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GGCTCACGTTCTGCAGCTGGT	0.597000														31			7		0	0	0.004482	0	0
MARK4	57787	broad.mit.edu	37	19	45768113	45768113	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45768113A>T	uc002pbb.2	+	5	768	c.437A>T	c.(436-438)tAc>tTc	p.Y146F	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.Y146F|MARK4_uc002pbc.1_Missense_Mutation_p.Y12F	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	146	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTGTTTGACTACCTCGTGTCG	0.682000														52			83		0	0	0.003610	0	0
NBAS	51594	broad.mit.edu	37	2	15432844	15432844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:15432844C>T	uc002rcc.1	-	40	4870	c.4844G>A	c.(4843-4845)cGa>cAa	p.R1615Q	NBAS_uc010exl.1_Missense_Mutation_p.R687Q|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1615										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTGCTCATGTCGAGTCACATG	0.453000														30			38		0	0	0.002852	0	0
CHST7	56548	broad.mit.edu	37	X	46433872	46433872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:46433872G>A	uc022bvm.1	+	0	506	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	CHST7_uc004dgt.3_Missense_Mutation_p.R169Q	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 (CHST7), mRNA.	169					N-acetylglucosamine metabolic process|chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity|chondroitin 6-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TCCGTGCTGCGGCTGTAcgcg	0.697000														44			25		0	0	0.003330	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226629	23226629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:23226629G>A	uc002dlm.1	+	12	1928	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	597					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCAGCCCTGGATATAGACGA	0.597000														21			15		0	0	0.004007	0	0
SCAF1	58506	broad.mit.edu	37	19	50154631	50154632	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50154631_50154632CC>TT	uc002poq.3	+	6	1109_1110	c.985_986CC>TT	c.(985-987)ccg>TTg	p.P329L		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	329					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCCACACAGCCGACTCCCGCC	0.703000														35			16		0	0	0.004672	0	0
SGSM1	129049	broad.mit.edu	37	22	25294011	25294011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:25294011C>T	uc003abg.2	+	19	2417	c.2260C>T	c.(2260-2262)Ccc>Tcc	p.P754S	SGSM1_uc010guu.1_Missense_Mutation_p.P699S|SGSM1_uc003abh.2_Missense_Mutation_p.P693S|SGSM1_uc003abj.2_Missense_Mutation_p.P638S|SGSM1_uc003abi.1_Missense_Mutation_p.P674S	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	754	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCCCAAGATCCCCAATGGGAA	0.547000														11			6		0	0	0.001984	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756499	94756499	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94756499G>A	uc001yct.3	-	1	898	c.432C>T	c.(430-432)ctC>ctT	p.L144L	SERPINA10_uc001ycu.4_Silent_p.L144L	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	144					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTCCCTTAAAGAGGGAAGGCA	0.577000														89			25		0	0	0.005443	0	0
MAST4	375449	broad.mit.edu	37	5	66459314	66459314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:66459314C>T	uc021xzk.1	+	28	4615	c.4307C>T	c.(4306-4308)cCc>cTc	p.P1436L	MAST4_uc003jut.2_Missense_Mutation_p.P1247L|MAST4_uc003juw.3_Missense_Mutation_p.P1175L|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1439						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCGGAGCCCCCCAGGTCCCCG	0.627000														9			4		0	0	0.000248	0	0
CENPP	401541	broad.mit.edu	37	9	95373626	95373626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:95373626G>A	uc004arz.3	+	5	1135	c.595G>A	c.(595-597)Gag>Aag	p.E199K	CENPP_uc010mqx.3_Missense_Mutation_p.E87K|CENPP_uc004asj.3_Missense_Mutation_p.E26K	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	Homo sapiens centromere protein P (CENPP), mRNA.	199					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						GTACCTCTCGGAGGGGCCCTC	0.627000														25			54		0	0	0.003610	0	0
ACSL5	51703	broad.mit.edu	37	10	114154853	114154853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:114154853G>A	uc001kzu.3	+	1	429	c.317G>A	c.(316-318)gGa>gAa	p.G106E	ACSL5_uc001kzs.3_Missense_Mutation_p.G50E|ACSL5_uc001kzt.3_Missense_Mutation_p.G50E|ACSL5_uc009xxz.3_Missense_Mutation_p.G50E	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	50					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CAGTCTGTGGGAATTGAGGTA	0.453000														6			6		0	0	0.001168	0	0
KIF21B	23046	broad.mit.edu	37	1	200943301	200943302	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200943301_200943302CC>TT	uc001gvs.2	-	34	5152_5153	c.4835_4836GG>AA	c.(4834-4836)tgg>tAA	p.W1612*	KIF21B_uc009wzl.2_Intron|KIF21B_uc001gvr.2_Nonsense_Mutation_p.W1599*|KIF21B_uc010ppn.2_Intron	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1612					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGACGTAATTCCACAACTTTAC	0.629000														49			13		0	0	0.004672	0	0
USP37	57695	broad.mit.edu	37	2	219360674	219360674	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:219360674C>T	uc010fvs.1	-	14	1695	c.1282_splice	c.e14-1	p.D428_splice	USP37_uc002vie.2_Splice_Site_p.D428_splice|USP37_uc010zkf.1_Splice_Site_p.D428_splice|USP37_uc002vif.2_Splice_Site_p.D428_splice|USP37_uc002vig.2_Splice_Site_p.D356_splice	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	428					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CATGAGCATCCTAATAAGACA	0.358000														38			15		0	0	0.003163	0	0
DMD	1756	broad.mit.edu	37	X	32536166	32536166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:32536166G>A	uc004dda.1	-	17	2495	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	DMD_uc004dcz.2_Missense_Mutation_p.R628W|DMD_uc004dcy.1_Missense_Mutation_p.R747W|DMD_uc004ddb.1_Missense_Mutation_p.R743W|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.R743W	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	751					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTTCCTTCCGAAAGATTGCA	0.373000														39			14		0	0	0.002450	0	0
CAD	790	broad.mit.edu	37	2	27461044	27461044	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27461044C>G	uc002rji.3	+	29	5011	c.4849C>G	c.(4849-4851)Cgg>Ggg	p.R1617G	CAD_uc010eyw.3_Missense_Mutation_p.R1554G	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1617	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCACGTGGCACGGAAGGAGGA	0.577000														25			8		0	0	0.003080	0	0
C1orf186	440712	broad.mit.edu	37	1	206240150	206240150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:206240150G>A	uc001hdt.1	-	4	941	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	101						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGCAGGAGGCGAACTGCAGGA	0.512000														64			47		0	0	0.003610	0	0
PCNT	5116	broad.mit.edu	37	21	47766795	47766795	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47766795C>G	uc002zji.4	+	4	966	c.859C>G	c.(859-861)Cgg>Ggg	p.R287G	PCNT_uc002zjj.3_Missense_Mutation_p.R169G|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	287	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTCAACAGCCGGCGTGCCCA	0.642000														21			9		0	0	0.000978	0	0
NRG1	3084	broad.mit.edu	37	8	32621578	32621578	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:32621578G>A	uc003xiv.2	+	11	2098	c.1581G>A	c.(1579-1581)acG>acA	p.T527T	NRG1_uc022ats.1_Silent_p.T477T|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.T532T|NRG1_uc003xiw.2_Silent_p.T524T|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.T269T|NRG1_uc010lvs.2_Silent_p.T269T|NRG1_uc010lvp.2_Silent_p.T481T|NRG1_uc010lvq.2_Silent_p.T457T|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.T370T|NRG1_uc003xja.2_Silent_p.T338T	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	527					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTATGAAACGACCCAAGAGT	0.552000														6			5		0	0	0.000602	0	0
GBF1	8729	broad.mit.edu	37	10	104142018	104142018	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:104142018C>T	uc001kux.2	+	39	5799	c.5505C>T	c.(5503-5505)atC>atT	p.I1835I	GBF1_uc001kuy.2_Silent_p.I1831I|GBF1_uc001kuz.2_Silent_p.I1832I	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1835	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCGCTCATCGAGGCCACCT	0.637000														54			42		0	0	0.003214	0	0
KLK5	25818	broad.mit.edu	37	19	51452022	51452022	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51452022G>A	uc002pue.3	-	5	818	c.600C>T	c.(598-600)ttC>ttT	p.F200F	KLK5_uc002puf.3_Silent_p.F200F|KLK5_uc002pug.3_Silent_p.F200F	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	200	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGACCTTAGGGAAGTGCACTG	0.517000														43			20		0	0	0.001523	0	0
CHAT	1103	broad.mit.edu	37	10	50870726	50870726	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:50870726G>A	uc001jhz.2	+	13	2028	c.1875G>A	c.(1873-1875)ctG>ctA	p.L625L	CHAT_uc001jhv.1_Silent_p.L507L|CHAT_uc001jhx.1_Silent_p.L507L|CHAT_uc001jhy.1_Silent_p.L507L|CHAT_uc001jia.2_Silent_p.L543L|CHAT_uc010qgs.1_Silent_p.L507L	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	625					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACCACCTGCTGGCACTGCGGG	0.577000														6			52		0	0	0.003610	0	0
C22orf28	51493	broad.mit.edu	37	22	32804216	32804216	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:32804216G>A	uc003amm.2	-	2	317	c.186C>T	c.(184-186)ttC>ttT	p.F62F	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	62					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGCTGGCAGGAAGCCACCAA	0.373000														36			18		0	0	0.001523	0	0
PIGQ	9091	broad.mit.edu	37	16	628806	628806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:628806C>T	uc002cho.3	+	5	1229	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	PIGQ_uc010bqw.3_Missense_Mutation_p.P364L|PIGQ_uc002chn.3_Missense_Mutation_p.P364L|PIGQ_uc010uui.2_Missense_Mutation_p.P378L|PIGQ_uc002chp.3_5'Flank	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	364	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTCATGTCCCCCTTCGTGGAG	0.657000														94			15		0	0	0.003163	0	0
XIRP2	129446	broad.mit.edu	37	2	168099266	168099266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:168099266C>T	uc002udx.3	+	8	1453	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P280L|XIRP2_uc010fpq.3_Missense_Mutation_p.P233L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	280					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCCTCCTCCCCCACCTGAC	0.448000														32			6		0	0	0.001168	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967678	161967678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:161967678C>T	uc010pkq.2	-	5	1838	c.1414G>A	c.(1414-1416)Gga>Aga	p.G472R	OLFML2B_uc001gbu.3_Missense_Mutation_p.G471R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	471										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGGTTGTTCCCCACCCAGCA	0.567000														164			45		0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763759	77763759	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:77763759C>T	uc003yau.2	+	9	4989	c.4602C>T	c.(4600-4602)ttC>ttT	p.F1534F	ZFHX4_uc003yaw.1_Silent_p.F1489F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1489						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAAAAATTCCTTGATCCAT	0.398000										HNSCC(33;0.089)				22			8		0	0	0.004482	0	0
AP4E1	23431	broad.mit.edu	37	15	51289871	51289871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:51289871G>A	uc001zyx.2	+	17	2802	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	AP4E1_uc021skz.1_Missense_Mutation_p.E824K|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	899					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGTTGCCAAGGAAAGCTCTTT	0.353000														19			8		0	0	0.003080	0	0
SCD5	79966	broad.mit.edu	37	4	83602049	83602049	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:83602049C>T	uc003hna.2	-	2	700	c.380G>A	c.(379-381)tGg>tAg	p.W127*	SCD5_uc003hnb.4_Nonsense_Mutation_p.W127*	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	127				W -> R (in Ref. 1; AAP31443 and 2; BAB14961).	fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GTCCCTGGACCACTCGAAGAT	0.597000														15			15		0	0	0.004990	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822053	24822053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:24822053G>A	uc001iru.4	+	15	3704	c.3301G>A	c.(3301-3303)Gca>Aca	p.A1101T	KIAA1217_uc001irs.3_Missense_Mutation_p.A1021T|KIAA1217_uc001irt.4_Missense_Mutation_p.A1066T|KIAA1217_uc010qcy.2_Missense_Mutation_p.A1065T|KIAA1217_uc010qcz.2_Missense_Mutation_p.A1066T|KIAA1217_uc001irw.3_Missense_Mutation_p.A784T|KIAA1217_uc001irz.3_Missense_Mutation_p.A784T|KIAA1217_uc001irx.3_Missense_Mutation_p.A784T|KIAA1217_uc001iry.3_Missense_Mutation_p.A784T	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1101					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAATATCCAGCAGAGGAGCC	0.502000														14			12		0	0	0.001855	0	0
LRIT1	26103	broad.mit.edu	37	10	85992033	85992033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:85992033C>T	uc001kcz.1	-	3	1544	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	508	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ACACACTGCTCCTTCCGGGGC	0.542000														7			7		0	0	0.003080	0	0
DCX	1641	broad.mit.edu	37	X	110644320	110644320	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:110644320C>T	uc004epd.3	-	2	1018	c.846G>A	c.(844-846)aaG>aaA	p.K282K	DCX_uc011msv.2_Silent_p.K282K|DCX_uc004epe.3_Silent_p.K201K|DCX_uc004epf.3_Silent_p.K201K|DCX_uc004epg.3_Silent_p.K201K	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	282	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGGCTGTCTTCTTGTTCAGAA	0.522000														2			8		0	0	0.003080	0	0
STK32B	55351	broad.mit.edu	37	4	5418633	5418633	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:5418633C>T	uc003gih.1	+	5	598	c.534C>T	c.(532-534)tcC>tcT	p.S178S	STK32B_uc010ida.1_Silent_p.S131S	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	178	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AAAGGGCTTCCTCCATGGCTG	0.498000														2			4		0	0	0.001984	0	0
CECR2	27443	broad.mit.edu	37	22	18022354	18022354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:18022354G>A	uc010gqw.1	+	14	2450	c.2450G>A	c.(2449-2451)cGa>cAa	p.R817Q	CECR2_uc010gqv.1_Missense_Mutation_p.R678Q|CECR2_uc002zml.2_Missense_Mutation_p.R678Q	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	861					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGTACATGCGACCGCCCTGC	0.592000														73			16		0	0	0.004990	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44261991	44261991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:44261991C>T	uc010xcy.1	-	6	1282	c.714G>A	c.(712-714)atG>atA	p.M238I	ST8SIA5_uc002lci.1_Missense_Mutation_p.M49I|ST8SIA5_uc002lcj.1_Missense_Mutation_p.M202I|ST8SIA5_uc010xcz.1_Missense_Mutation_p.M171I	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	202					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCCCCACATCCATGGTGTACT	0.552000														47			8		0	0	0.006214	0	0
HBG1	3047	broad.mit.edu	37	11	5275625	5275625	+	Missense_Mutation	SNP	G	A	A	rs151258456		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5275625G>A	uc001mai.1	-	1	649	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.S71F	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	71					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	p.S71F(1)		large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTCCCAAGGAAGTCAGCAC	0.532000														30			16		0	0	0.004007	0	0
PHLPP2	23035	broad.mit.edu	37	16	71715668	71715668	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71715668G>A	uc002fax.3	-	4	882	c.876C>T	c.(874-876)ctC>ctT	p.L292L	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Silent_p.L292L|PHLPP2_uc002fay.1_Silent_p.L292L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	292						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGAGTGTATCGAGGCCTCCGG	0.438000														21			18		0	0	0.007413	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531413	140531413	+	Silent	SNP	C	T	T	rs144225778		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140531413C>T	uc003lir.3	+	0	1575	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S524A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCTTTCGAGTTCCGCG	0.672000														68			30		0	0	0.002445	0	0
BAI1	575	broad.mit.edu	37	8	143558856	143558856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:143558856C>T	uc003ywm.3	+	4	1516	c.1333C>T	c.(1333-1335)Ccc>Tcc	p.P445S		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	445	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGGGGCAACCCCTGTGAGGG	0.647000														68			19		0	0	0.001216	0	0
DPYSL3	1809	broad.mit.edu	37	5	146778664	146778664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:146778664G>A	uc003loo.3	-	10	1802	c.1604C>T	c.(1603-1605)tCt>tTt	p.S535F	DPYSL3_uc003lon.1_Missense_Mutation_p.S421F	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	421					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTTGGCAGAGACGATCTT	0.512000														91			27		0	0	0.003954	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695515	219695515	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:219695515T>C	uc002vjb.1	-	2	202	c.183A>G	c.(181-183)acA>acG	p.T61T	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.T61T|PRKAG3_uc010zko.1_Silent_p.T61T	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	61					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCTGCCTTGTCCATCTCA	0.592000														72			55		0	0	0.003610	0	0
NEDD4L	23327	broad.mit.edu	37	18	55983259	55983259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:55983259C>T	uc002lgy.3	+	5	626	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	NEDD4L_uc002lgz.3_Missense_Mutation_p.L115F|NEDD4L_uc002lgx.3_Missense_Mutation_p.L115F|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Missense_Mutation_p.L107F|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Missense_Mutation_p.L107F|NEDD4L_uc002lhf.3_5'UTR|NEDD4L_uc010dpl.2_Non-coding_Transcript|NEDD4L_uc002lhg.3_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	115					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCTTAGTCACCTTCCGGTAAG	0.493000														137			58		0	0	0.003610	0	0
CDCP1	64866	broad.mit.edu	37	3	45153631	45153631	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:45153631C>T	uc003com.3	-	2	734	c.599G>A	c.(598-600)tGg>tAg	p.W200*	CDCP1_uc003con.3_Nonsense_Mutation_p.W200*	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	200						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGGGTGGAACCATGGGAGGTG	0.502000														43			12		0	0	0.003163	0	0
AGBL5	60509	broad.mit.edu	37	2	27282264	27282264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27282264C>T	uc002rie.3	+	10	2298	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L	AGBL5_uc002rid.3_Missense_Mutation_p.P694L|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	694					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCTGGGCCCCGTCAGAGGT	0.582000														94			40		0	0	0.002852	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351091	89351091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:89351091G>A	uc002fmx.1	-	8	2320	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P620L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P620L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P577L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	620						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTCCAGTTTGGGGACAGCGCC	0.527000														66			25		0	0	0.002780	0	0
PSPH	5723	broad.mit.edu	37	7	56087373	56087373	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:56087373G>A	uc003trj.3	-	2	597	c.282C>T	c.(280-282)cgC>cgT	p.R94R	PSPH_uc003trh.3_Silent_p.R65R|PSPH_uc003tri.3_Silent_p.R65R	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	65					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGGGCTAAGCGCTCTGTGA	0.632000														32			22		0	0	0.001523	0	0
ZNF296	162979	broad.mit.edu	37	19	45579360	45579360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45579360C>T	uc002pao.3	-	0	329	c.272G>A	c.(271-273)tGg>tAg	p.W91*		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	91					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CAACGGCGTCCACAGGGTCCA	0.741000														65			88		0	0	0.003610	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934214	113934214	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:113934214C>T	uc001pop.3	+	1	456	c.192C>T	c.(190-192)caC>caT	p.H64H	ZBTB16_uc001poo.1_Silent_p.H64H|ZBTB16_uc001poq.3_Silent_p.H64H	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	64	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTCTTCCACCGCAATAGTC	0.547000														37			24		0	0	0.002780	0	0
MT4	84560	broad.mit.edu	37	16	56599053	56599053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:56599053G>A	uc002eje.1	+	0	93	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	5						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						GGACCCCAGGGAATGTGTCTG	0.587000														39			58		0	0	0.003610	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:214878736C>T	uc002veq.3	+	12	1554	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_uc010fuz.2_Missense_Mutation_p.P339S|SPAG16_uc002ver.3_Missense_Mutation_p.P434S|SPAG16_uc010zjk.2_Missense_Mutation_p.P394S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000														12			6		0	0	0.001168	0	0
MCAT	27349	broad.mit.edu	37	22	43537198	43537198	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:43537198C>G	uc003bdl.1	-	1	530	c.481G>C	c.(481-483)Gtg>Ctg	p.V161L	MCAT_uc003bdm.1_Missense_Mutation_p.V161L	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCGGCAAACACTAGGGCTGCA	0.532000														89			153		0	0	0.003610	0	0
LIM2	3982	broad.mit.edu	37	19	51890415	51890415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51890415C>T	uc002pwl.2	-	1	327	c.283G>A	c.(283-285)Gga>Aga	p.G95R	LIM2_uc002pwm.2_Intron	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		gctccctttccctctttgagc	0.607000														25			16		0	0	0.003163	0	0
PIF1	80119	broad.mit.edu	37	15	65112061	65112061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:65112061G>A	uc002ant.2	-	7	1384	c.1318C>T	c.(1318-1320)Ctt>Ttt	p.L440F	PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Missense_Mutation_p.L131F|PIF1_uc010uiq.1_Missense_Mutation_p.L440F	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	440	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AGCTCCTGAAGCCGCCTCTCG	0.637000														46			30		0	0	0.007291	0	0
ASTN1	460	broad.mit.edu	37	1	176993856	176993856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:176993856C>T	uc001glc.3	-	5	1345	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ASTN1_uc001glb.1_Missense_Mutation_p.R378Q|ASTN1_uc001gld.1_Missense_Mutation_p.R378Q|ASTN1_uc009wwx.1_Missense_Mutation_p.R378Q|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	378					cell migration|neuron cell-cell adhesion	integral to membrane		p.R378Q(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGGACTTCGGGGAGAACC	0.493000														33			12		0	0	0.003163	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218812	134218812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:134218812C>T	uc001lll.4	+	1	837	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	PWWP2B_uc009ybe.3_Missense_Mutation_p.P270S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	270										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGTCAAGATCCCCTCCCGCGT	0.706000														4			21		0	0	0.001882	0	0
INPP4B	8821	broad.mit.edu	37	4	143129678	143129678	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:143129678G>A	uc003iix.4	-	14	1567	c.972C>T	c.(970-972)tcC>tcT	p.S324S	INPP4B_uc003iiw.4_Silent_p.S324S|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Silent_p.S139S|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Silent_p.S195S	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	324					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATTTGAAAGAGGACCCTGATG	0.303000														6			6		0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38939400	38939400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:38939400G>A	uc021yzh.1	+	82	12593	c.12484G>A	c.(12484-12486)Gaa>Aaa	p.E4162K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3945K|DNAH8_uc003oog.1_Missense_Mutation_p.E394K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.E3945K(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAAGGACAAGAAGTACATGC	0.403000														34			13		0	0	0.002450	0	0
SPATA13	221178	broad.mit.edu	37	13	24864988	24864988	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:24864988G>C	uc001upd.2	+	10	3624	c.3046G>C	c.(3046-3048)Gcc>Ccc	p.A1016P	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Missense_Mutation_p.A1016P|SPATA13_uc001upg.2_Missense_Mutation_p.A391P|SPATA13_uc010tcy.1_Missense_Mutation_p.A337P|SPATA13_uc010tcz.2_Missense_Mutation_p.A275P|SPATA13_uc010tdb.2_Missense_Mutation_p.A251P|SPATA13_uc010tda.2_Missense_Mutation_p.A335P|SPATA13_uc001uph.3_Missense_Mutation_p.A313P|SPATA13_uc009zzz.2_Missense_Mutation_p.A116P	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	391					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCTGCAGCTGGCCGAGCTGCT	0.577000														17			8		0	0	0.004482	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16842955	16842955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:16842955G>A	uc002gqs.1	-	4	801	c.788C>T	c.(787-789)aCc>aTc	p.T263I	TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.T217I	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	263					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGTGGTCCTGGTGTGGCACCC	0.657000									IgA Deficiency, Selective					57			14		0	0	0.004990	0	0
BICD2	23299	broad.mit.edu	37	9	95483034	95483035	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:95483034_95483035CC>TT	uc004asp.1	-	3	666_667	c.609_610GG>AA	c.(607-612)gtggag>gtAAag	p.E204K	BICD2_uc004aso.1_Missense_Mutation_p.E204K	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	204					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCCTCAAACTCCACCTGGGAAG	0.535000														34			20		0	0	0.004672	0	0
ROBO3	64221	broad.mit.edu	37	11	124743608	124743608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124743608C>T	uc001qbc.3	+	10	1803	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	545					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)		TGGGGAGTATCACCAGACCCC	0.527000														22			8		0	0	0.003080	0	0
ATG2A	23130	broad.mit.edu	37	11	64678368	64678368	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64678368G>C	uc001obx.3	-	10	1640	c.1525C>G	c.(1525-1527)Cgg>Ggg	p.R509G		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	509							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTGGTTGTCCGCCGGCCCCGA	0.672000														6			12		0	0	0.003163	0	0
ABCA12	26154	broad.mit.edu	37	2	215890438	215890438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:215890438C>T	uc002vew.3	-	10	1466	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	ABCA12_uc002vev.3_Missense_Mutation_p.E98K|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	416					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGTAATCTTCATAGGAACCA	0.308000														56			60		0	0	0.003610	0	0
PTPN14	5784	broad.mit.edu	37	1	214557025	214557025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:214557025G>A	uc001hkk.2	-	12	2826	c.2173C>T	c.(2173-2175)Ccc>Tcc	p.P725S	PTPN14_uc021piy.1_Missense_Mutation_p.P489S|PTPN14_uc010pty.2_Missense_Mutation_p.P626S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	725					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CGGAGCATGGGGATCTGGGGC	0.612000														69			24		0	0	0.003330	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011288	34011288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:34011288G>A	uc002yqh.2	-	30	3962	c.3962C>T	c.(3961-3963)aCc>aTc	p.T1321I	SYNJ1_uc011ads.1_Missense_Mutation_p.T1235I|SYNJ1_uc002yqf.2_Missense_Mutation_p.T1266I|SYNJ1_uc002yqg.2_Missense_Mutation_p.T1235I|SYNJ1_uc002yqi.2_Missense_Mutation_p.T1321I|SYNJ1_uc002yqe.4_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1282	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTGTGGTGGGGTTTCCAAATT	0.522000														71			83		0	0	0.003610	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818809	200818809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200818809C>T	uc001gvl.3	+	11	3215	c.2945C>T	c.(2944-2946)tCt>tTt	p.S982F	CAMSAP2_uc001gvk.3_Missense_Mutation_p.S971F|CAMSAP2_uc001gvm.3_Missense_Mutation_p.S955F	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	982						cytoplasm|microtubule	protein binding										GCATCTTTTTCTGTTAAAAGT	0.473000														54			38		0	0	0.005524	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411153	32411153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:32411153C>T	uc003obh.3	+	2	629	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	HLA-DRA_uc003obi.3_Missense_Mutation_p.H149Y	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	174	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCGCAAGTTCCACTATCTCCC	0.547000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					20			13		0	0	0.002450	0	0
RFX1	5989	broad.mit.edu	37	19	14104454	14104454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:14104454G>A	uc002mxv.3	-	1	474	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S	RFX1_uc010dzi.2_Missense_Mutation_p.P68S	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	68					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGCCACCCGGTggctgtgcc	0.706000														20			15		0	0	0.002450	0	0
FCGBP	8857	broad.mit.edu	37	19	40434112	40434112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40434112G>A	uc002omp.4	-	1	165	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	53	IgGFc-binding.					extracellular region	protein binding	p.P53L(1)|p.Y52*(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGAGGCGGGGGTAGGCCTTG	0.572000														84			33		0	0	0.004289	0	0
TSPYL2	64061	broad.mit.edu	37	X	53117109	53117109	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53117109G>A	uc004drw.3	+	6	2209	c.2070G>A	c.(2068-2070)ggG>ggA	p.G690G	TSPYL2_uc004drv.3_3'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	690					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGAAGAGGGGGAAAACCGGAT	0.572000											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			43		0	0	0.003610	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049993	42049993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:42049993C>T	uc001cgz.4	-	3	1689	c.476G>A	c.(475-477)gGa>gAa	p.G159E	HIVEP3_uc001cha.4_Missense_Mutation_p.G159E|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	159					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTTGGGGACTCCAGGAAGGTC	0.607000														42			49		0	0	0.003610	0	0
GJA1	2697	broad.mit.edu	37	6	121769042	121769042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:121769042G>A	uc003pyr.3	+	1	1299	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	GJA1_uc011ebo.1_Missense_Mutation_p.G251E|GJA1_uc011ebp.1_Missense_Mutation_p.G138E|GJA1_uc021zel.1_Missense_Mutation_p.G350E	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	350					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTAGCTGCTGGACATGAATTA	0.517000														36			40		0	0	0.006230	0	0
PAK7	57144	broad.mit.edu	37	20	9546761	9546761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9546761C>T	uc002wnl.2	-	5	1806	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N	PAK7_uc002wnk.2_Missense_Mutation_p.D421N|PAK7_uc002wnj.2_Missense_Mutation_p.D421N|PAK7_uc010gby.1_Missense_Mutation_p.D421N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	421	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.D421N(4)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTGCTGGTCGGAGGAGGAG	0.627000														53			6		0	0	0.001168	0	0
RAD54B	25788	broad.mit.edu	37	8	95392417	95392417	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:95392417A>G	uc003ygk.3	-	11	2334	c.2203T>C	c.(2203-2205)Tta>Cta	p.L735L	RAD54B_uc010may.2_Silent_p.L551L	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TAGAGAATTAAGTGAGATCCT	0.348000								Direct reversal of damage;Homologous recombination						73			27		0	0	0.001786	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324406	128324406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:128324406C>T	uc003kuy.3	+	3	1195	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	SLC27A6_uc003kuz.3_Missense_Mutation_p.H267Y	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	267					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCCTCTGTATCATAGTTCAGC	0.383000														56			22		0	0	0.003330	0	0
FLNB	2317	broad.mit.edu	37	3	58131715	58131715	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:58131715C>T	uc003djj.2	+	32	5658	c.5493C>T	c.(5491-5493)ctC>ctT	p.L1831L	FLNB_uc010hne.2_Silent_p.L1862L|FLNB_uc003djk.2_Silent_p.L1820L|FLNB_uc010hnf.2_Silent_p.L1807L|FLNB_uc003djl.2_Silent_p.L1651L|FLNB_uc003djm.2_Silent_p.L1638L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1831					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTCCAGGCCTCGTGTATGGAG	0.507000														37			65		0	0	0.003610	0	0
TCF12	6938	broad.mit.edu	37	15	57356002	57356002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:57356002C>T	uc002aec.3	+	3	487	c.203C>T	c.(202-204)cCt>cTt	p.P68L	TCF12_uc010ugm.1_Missense_Mutation_p.P120L|TCF12_uc010ugn.1_Intron|TCF12_uc002aea.3_Missense_Mutation_p.P68L|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.P68L|TCF12_uc002aed.3_Missense_Mutation_p.P68L	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	68					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAACCAAGTCCTTCCTATGAT	0.333000			T	TEC	extraskeletal myxoid chondrosarcoma									244			64		0	0	0.003610	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067444	103067444	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:103067444C>T	uc002tbx.3	+	10	1831	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	IL18RAP_uc010fiz.3_Silent_p.S307S	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	449	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATGGATATAGCCTGTGTTTGC	0.438000														61			29		0	0	0.001512	0	0
LAMA1	284217	broad.mit.edu	37	18	6965357	6965357	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:6965357G>A	uc002knm.3	-	49	7219	c.7125C>T	c.(7123-7125)acC>acT	p.T2375T	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Silent_p.T1851T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2375	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCAAAAGGGTAATGGGTC	0.463000														16			40		0	0	0.007835	0	0
ATL1	51062	broad.mit.edu	37	14	51094844	51094844	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:51094844G>A	uc021rsw.1	+	11	1456	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	ATL1_uc001wyd.4_Silent_p.V405V|ATL1_uc001wyf.4_Silent_p.V405V|ATL1_uc001wye.4_Silent_p.V405V|ATL1_uc021rsx.1_Silent_p.V405V	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	405					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCCGAGGGGTGAAGAAGATGG	0.443000														8			19		0	0	0.006122	0	0
LYST	1130	broad.mit.edu	37	1	235887328	235887328	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:235887328C>T	uc001hxj.2	-	39	9490	c.9315_splice	c.e39+1	p.K3105_splice	LYST_uc001hxi.2_Splice_Site_p.K329_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3105					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGAATTTACCTTGGTGTTAT	0.348000														27			28		0	0	0.001786	0	0
METTL20	254013	broad.mit.edu	37	12	31819115	31819115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:31819115G>A	uc009zjr.3	+	2	618	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	METTL20_uc001rkl.3_Missense_Mutation_p.G137R|METTL20_uc001rkm.3_Missense_Mutation_p.G137R	NM_001135864	NP_776163	Q8IXQ9	MET20_HUMAN	Homo sapiens methyltransferase like 20 (METTL20), transcript variant 3, mRNA.	137						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						TAAGATGAGTGGGGCATCAAG	0.363000														51			25		0	0	0.001786	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524206	73524206	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73524206T>C	uc004ebs.4	+	0	182	c.105T>C	c.(103-105)ggT>ggC	p.G35G		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	35							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATGGCAGAGGTTCTCAATGTG	0.547000														18			22		0	0	0.002780	0	0
NLRP3	114548	broad.mit.edu	37	1	247588515	247588515	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:247588515C>T	uc001icr.3	+	4	1908	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	NLRP3_uc001ics.3_Silent_p.S590S|NLRP3_uc001icu.3_Silent_p.S590S|NLRP3_uc001icw.3_Silent_p.S590S|NLRP3_uc001icv.3_Silent_p.S590S|NLRP3_uc010pyw.2_Silent_p.S588S|NLRP3_uc001ict.1_Silent_p.S588S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	590					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAGGACCTCCTACTTGGAGA	0.433000														33			31		0	0	0.001786	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758302	99758302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:99758302G>A	uc003utt.3	-	2	1727	c.710C>T	c.(709-711)cCc>cTc	p.P237L	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.P175L|GAL3ST4_uc003utu.3_Missense_Mutation_p.P237L	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	237					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCTGTGGGGGGTTGGGGTC	0.562000														270			82		0	0	0.003610	0	0
MERTK	10461	broad.mit.edu	37	2	112786220	112786220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:112786220G>A	uc002thk.1	+	18	2901	c.2779G>A	c.(2779-2781)Gga>Aga	p.G927R	MERTK_uc002thl.1_Missense_Mutation_p.G751R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	927					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACCTCATGAAGGACGGTACAT	0.532000														70			28		0	0	0.002096	0	0
ASH1L	55870	broad.mit.edu	37	1	155448032	155448032	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:155448032G>A	uc009wqq.3	-	2	5109	c.4629C>T	c.(4627-4629)ctC>ctT	p.L1543L	ASH1L_uc001fkt.3_Silent_p.L1543L|ASH1L_uc009wqr.1_Silent_p.L1543L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1543					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGAAGGAGAGAGATGAGGGC	0.458000														52			15		0	0	0.006122	0	0
PPP4R4	57718	broad.mit.edu	37	14	94712731	94712731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94712731C>T	uc001ycs.1	+	13	1620	c.1466C>T	c.(1465-1467)gCt>gTt	p.A489V		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	489						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCACTCACAGCTGCTGAACAG	0.398000														51			11		0	0	0.000673	0	0
MEI1	150365	broad.mit.edu	37	22	42149986	42149986	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:42149986C>T	uc003baz.1	+	16	1912	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_5'UTR|MEI1_uc003bbc.1_5'UTR|MEI1_uc010gym.1_5'UTR	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	629							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCCAATTTCCTCTACTATA	0.458000														30			55		0	0	0.003610	0	0
ACSM1	116285	broad.mit.edu	37	16	20693667	20693667	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20693667G>A	uc002dhm.1	-	2	590	c.522C>T	c.(520-522)tcC>tcT	p.S174S	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.S174S	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	174					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GAGAAGCTATGGAGTCCACCT	0.522000														3			7		0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103354172	103354172	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:103354172C>T	uc001dum.3	-	61	4923	c.4605G>A	c.(4603-4605)caG>caA	p.Q1535Q	COL11A1_uc001duk.3_Silent_p.Q719Q|COL11A1_uc001dul.3_Silent_p.Q1523Q|COL11A1_uc001dun.3_Silent_p.Q1484Q|COL11A1_uc009weh.3_Silent_p.Q1407Q	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1523	Triple-helical region.		S -> P (in dbSNP:rs1676486).		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCACCTTTCTGGCCAGCGG	0.418000														10			4		0	0	0.000602	0	0
SLC43A3	29015	broad.mit.edu	37	11	57175281	57175281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57175281G>A	uc010rjr.2	-	13	1841	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	SLC43A3_uc001nke.3_Intron|SLC43A3_uc021qjf.1_Non-coding_Transcript|SLC43A3_uc001nkg.3_Missense_Mutation_p.P487L|SLC43A3_uc001nkh.3_Missense_Mutation_p.P487L|SLC43A3_uc009yme.3_Missense_Mutation_p.P487L|SLC43A3_uc001nki.3_Missense_Mutation_p.P487L	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	487					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AATTGCAGAGGGACTTTCTTT	0.478000														28			12		0	0	0.002450	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875040	45875040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:45875040C>T	uc010zxy.1	-	13	2099	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	ZMYND8_uc010ghq.1_Missense_Mutation_p.E323K|ZMYND8_uc010ghr.1_Missense_Mutation_p.E621K|ZMYND8_uc002xst.1_Missense_Mutation_p.E574K|ZMYND8_uc002xsu.1_Missense_Mutation_p.E646K|ZMYND8_uc002xsv.1_Missense_Mutation_p.E574K|ZMYND8_uc002xsw.1_Missense_Mutation_p.E398K|ZMYND8_uc002xsx.1_Missense_Mutation_p.E398K|ZMYND8_uc002xsy.1_Missense_Mutation_p.E621K|ZMYND8_uc002xsz.1_Missense_Mutation_p.E583K|ZMYND8_uc002xta.1_Missense_Mutation_p.E646K|ZMYND8_uc002xtb.1_Missense_Mutation_p.E666K|ZMYND8_uc002xss.2_Missense_Mutation_p.E646K|ZMYND8_uc010zxz.1_Missense_Mutation_p.E641K|ZMYND8_uc002xtc.1_Missense_Mutation_p.E666K|ZMYND8_uc002xtd.1_Missense_Mutation_p.E641K|ZMYND8_uc002xte.1_Missense_Mutation_p.E646K|ZMYND8_uc010zya.1_Missense_Mutation_p.E646K|ZMYND8_uc002xtf.1_Missense_Mutation_p.E666K|ZMYND8_uc002xtg.3_Missense_Mutation_p.E640K|ZMYND8_uc010ghs.2_Missense_Mutation_p.E640K	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	646							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTCAGCTCCTCTTTAATCTCC	0.517000														288			84		0	0	0.003610	0	0
FSD2	123722	broad.mit.edu	37	15	83437733	83437733	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:83437733C>T	uc002bjd.2	-	8	1619	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	FSD2_uc010uol.1_Silent_p.E439E|FSD2_uc010uom.1_Silent_p.E439E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	484	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCAGCACAGCCTCTTCACAGC	0.498000														7			6		0	0	0.001984	0	0
NUP210	23225	broad.mit.edu	37	3	13420450	13420450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:13420450G>A	uc003bxv.1	-	7	1090	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	NUP210_uc003bxx.3_Missense_Mutation_p.P8L	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	336					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGTGCTGTTGGGTAACCTAGA	0.478000														101			36		0	0	0.006999	0	0
SP140	11262	broad.mit.edu	37	2	231135334	231135334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:231135334G>A	uc002vql.3	+	14	1593	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.G379E|SP140_uc002vqm.3_Missense_Mutation_p.G433E|SP140_uc010fxl.3_Missense_Mutation_p.G466E	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	493					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCACTTTGGGAAAACCCAAG	0.289000														13			7		0	0	0.000673	0	0
ACAN	176	broad.mit.edu	37	15	89381934	89381934	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:89381934C>T	uc010upo.1	+	2	485	c.111C>T	c.(109-111)tcC>tcT	p.S37S	ACAN_uc002bmx.3_Silent_p.S37S|ACAN_uc010upp.1_Silent_p.S37S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	37					cell adhesion		hyaluronic acid binding|sugar binding	p.P36P(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCAACCGTCCCCGCTGAGGG	0.632000														102			26		0	0	0.005443	0	0
PTPRM	5797	broad.mit.edu	37	18	7888235	7888235	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:7888235C>A	uc002knn.4	+	2	831	c.328C>A	c.(328-330)Cct>Act	p.P110T	PTPRM_uc010dkv.3_Missense_Mutation_p.P110T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	110	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.P110S(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGTAATTCTCCTCCGGGGTT	0.488000														19			14		1.3612e-06	2.57989e-06	0.003163	1	0
RPS6KA1	6195	broad.mit.edu	37	1	26899811	26899811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:26899811C>T	uc001bmr.1	+	20	2207	c.2044C>T	c.(2044-2046)Ccc>Tcc	p.P682S	RPS6KA1_uc010ofe.1_Missense_Mutation_p.P590S|RPS6KA1_uc001bms.1_Missense_Mutation_p.P691S|RPS6KA1_uc009vsl.1_Missense_Mutation_p.P525S	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	682					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGACAAGCTTCCCCAAAGCCA	0.602000														7			65		0	0	0.003610	0	0
ABCC2	1244	broad.mit.edu	37	10	101611279	101611279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:101611279G>A	uc001kqf.2	+	31	4668	c.4529G>A	c.(4528-4530)gGg>gAg	p.G1510E		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1510	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.G1510W(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTAGACAACGGGAAGATTATA	0.418000														4			47		0	0	0.003610	0	0
ESX1	80712	broad.mit.edu	37	X	103499521	103499521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:103499521G>A	uc004ely.3	-	0	79	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	4					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L4H(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TACCCGCGAAGAGACTCCATG	0.587000														167			91		0	0	0.003610	0	0
LZTR1	8216	broad.mit.edu	37	22	21327711	21327711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21327711C>T	uc011ahx.1	+	2	432	c.221C>T	c.(220-222)tCc>tTc	p.S74F	LZTR1_uc002ztk.2_Silent_p.F49F|LZTR1_uc002ztj.2_Silent_p.F49F|LZTR1_uc002ztl.2_Silent_p.F55F			Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), transcript variant 4, non-coding RNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCGCCACTTCCACACGGAGG	0.672000														19			18		0	0	0.001216	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:13418659G>A	uc002mwy.3	-	14	2159	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc010xnd.2_Silent_p.F641F|CACNA1A_uc021ups.1_Silent_p.F641F|CACNA1A_uc010xne.2_Silent_p.F641F|CACNA1A_uc010dze.2_Silent_p.F641F|CACNA1A_uc021upt.1_Silent_p.F642F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000														103			28		0	0	0.002836	0	0
GNGT2	2793	broad.mit.edu	37	17	47284153	47284153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:47284153G>A	uc002ioo.2	-	3	483	c.176C>T	c.(175-177)cCc>cTc	p.P59L	GNGT2_uc021tzo.1_Missense_Mutation_p.P59L|GNGT2_uc021tzp.1_Missense_Mutation_p.P59L|GNGT2_uc021tzq.1_Missense_Mutation_p.P59L	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	59					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CTCCTTGAAGGGATTCTTGTC	0.532000														61			37		0	0	0.004289	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963455	73963455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73963455G>A	uc004eby.3	-	2	1554	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	313					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTCATATCGAATTTTCAGG	0.418000														25			6		0	0	0.003080	0	0
ADRA1D	146	broad.mit.edu	37	20	4202271	4202271	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:4202271C>G	uc002wkr.2	-	1	1673	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	540				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GACACAGCCTCCACCTCTGAG	0.677000														38			23		0	0	0.003330	0	0
ADAM21	8747	broad.mit.edu	37	14	70924998	70924998	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70924998G>C	uc021rvq.1	+	0	782	c.782G>C	c.(781-783)tGg>tCg	p.W261S	ADAM21_uc001xmd.3_Missense_Mutation_p.W261S	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	261	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGAAATTTGGAATCAAGGA	0.368000														46			8		0	0	0.000673	0	0
WDR69	164781	broad.mit.edu	37	2	228783568	228783568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228783568C>T	uc002vpn.1	+	10	1125	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	WDR69_uc010zlw.1_Missense_Mutation_p.S334L|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	349										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGTGAAATTTCAAAGGTGAGT	0.418000														20			6		0	0	0.004482	0	0
TRO	7216	broad.mit.edu	37	X	54951462	54951462	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:54951462C>T	uc004dtq.3	+	5	1553	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRO_uc004dts.3_Silent_p.F482F|TRO_uc004dtr.3_Silent_p.F482F|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Silent_p.F85F|TRO_uc011mok.2_Silent_p.F13F|TRO_uc004dtw.3_Silent_p.F85F|TRO_uc004dtx.3_5'UTR|SNORA11_uc022bxj.1_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	482	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGAATATTTCCCAGAAATCA	0.502000														27			6		0	0	0.003080	0	0
KCND1	3750	broad.mit.edu	37	X	48823430	48823430	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48823430A>G	uc004dlx.1	-	1	2778	c.1205T>C	c.(1204-1206)cTg>cCg	p.L402P	KCND1_uc004dlw.1_Missense_Mutation_p.L25P	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	402						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGGCACAGGCAGGGCAATGAC	0.582000														42			13		0	0	0.002450	0	0
FLG	2312	broad.mit.edu	37	1	152280644	152280644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152280644C>T	uc001ezu.1	-	2	6754	c.6718G>A	c.(6718-6720)Gga>Aga	p.G2240R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2240	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)			ACACTGGATCCCCGGGGCCTG	0.577000									Ichthyosis					113			35		0	0	0.004878	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142603	35142603	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:35142603C>T	uc003teq.1	-	18	2060	c.953G>A	c.(952-954)tGg>tAg	p.W318*	DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TATTATGCTCCATTGATTACG	0.363000														19			11		0	0	0.000978	0	0
MBL2	4153	broad.mit.edu	37	10	54528094	54528094	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:54528094G>A	uc001jjt.3	-	3	615	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	184	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGATGCCCAGGAAGGCTTCC	0.517000														43			39		0	0	0.001951	0	0
DUOX2	50506	broad.mit.edu	37	15	45398524	45398524	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:45398524C>T	uc001zun.3	-	17	2149	c.1946_splice	c.e17-1	p.A649_splice	DUOX2_uc010bea.3_Splice_Site_p.A649_splice	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	649					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCCACTCCATCGCTGGGGAAG	0.592000														54			16		0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	T	T	rs145926133		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140711128C>T	uc003lji.2	+	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGC5_uc011dan.2_Missense_Mutation_p.R293C	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	294	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R293C(2)		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)			CCAAATATTTCGTTTAGATTC	0.428000														53			21		0	0	0.002780	0	0
RBM27	54439	broad.mit.edu	37	5	145643195	145643195	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:145643195G>A	uc003lnz.4	+	14	2497	c.2331_splice	c.e14+1	p.Q777_splice	RBM27_uc003lny.2_Splice_Site_p.Q722_splice	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	777					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATTGCCAGGTATGCATTTT	0.388000														62			92		0	0	0.003610	0	0
ZNF318	24149	broad.mit.edu	37	6	43325003	43325003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:43325003G>A	uc003oux.3	-	2	1127	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	350					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGGGATGGAACAGCCAGT	0.512000														35			12		0	0	0.000978	0	0
PCLO	27445	broad.mit.edu	37	7	82545020	82545020	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82545020G>A	uc003uhx.2	-	6	12571	c.12282C>T	c.(12280-12282)ttC>ttT	p.F4094F	PCLO_uc003uhv.2_Silent_p.F4094F|PCLO_uc010lec.3_Silent_p.F1059F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4025					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGGTGCTAGGAAATCTGTCA	0.453000														3			3		0	0	0.004672	0	0
KEL	3792	broad.mit.edu	37	7	142641470	142641470	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142641470C>T	uc003wcb.3	-	12	1641	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	477					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCCCCATCTCCACCTGCAGTT	0.547000														109			27		0	0	0.001512	0	0
DSG3	1830	broad.mit.edu	37	18	29044140	29044140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:29044140C>T	uc002kws.3	+	8	1175	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	356	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTGAATTTCACCAATCAGT	0.383000														31			8		0	0	0.003080	0	0
TRIM42	287015	broad.mit.edu	37	3	140406823	140406823	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:140406823C>T	uc003eto.2	+	2	1505	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	433						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCAAGGAAGCCCTGAAGGAGA	0.517000														8			11		0	0	0.001368	0	0
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:48413860G>A	uc001jfa.1	-	1	1168	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	336					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.F336F(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607000														6			50		0	0	0.003610	0	0
SFTPB	6439	broad.mit.edu	37	2	85894234	85894234	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:85894234A>G	uc002sqj.3	-	3	398	c.298T>C	c.(298-300)Ttc>Ctc	p.F100L	SFTPB_uc002sqi.3_Missense_Mutation_p.F100L|SFTPB_uc002sqh.3_Missense_Mutation_p.F100L	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	88	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ATTACCTGGAAAATGGCCTCC	0.572000														43			16		0	0	0.004990	0	0
DOT1L	84444	broad.mit.edu	37	19	2217040	2217040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:2217040C>T	uc002lvc.1	+	6	1144	c.377C>T	c.(376-378)cCc>cTc	p.P126L	DOT1L_uc002lvb.4_Missense_Mutation_p.P832L|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.P126L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	832						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCCGCGGCCCCTGTCCCCT	0.672000														56			12		0	0	0.001368	0	0
DCHS2	54798	broad.mit.edu	37	4	155241609	155241609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:155241609C>T	uc003inw.2	-	13	3577	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1193	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCCTTCCTTCGTCTGGATCG	0.453000														17			21		0	0	0.003330	0	0
ZNF138	7697	broad.mit.edu	37	7	64291840	64291840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:64291840C>T	uc011kdq.2	+	2	318	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	ZNF138_uc003ttg.3_Missense_Mutation_p.R17C|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.R42C|ZNF138_uc011kdp.2_Silent_p.L119L	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	48					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TCTGTGTTCTCGTTTTGCCCA	0.333000														87			20		0	0	0.001523	0	0
DGKH	160851	broad.mit.edu	37	13	42830451	42830451	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:42830451C>T	uc001uyp.3	+	31		c.4265C>T						Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 5, mRNA.						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGTGGGAATCCAGGCCAATA	0.438000														44			15		0	0	0.003163	0	0
ZNF708	7562	broad.mit.edu	37	19	21476296	21476296	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:21476296A>G	uc002npq.1	-	3	1670	c.1472T>C	c.(1471-1473)cTt>cCt	p.L491P	ZNF708_uc002npr.1_Missense_Mutation_p.L427P|ZNF708_uc010ecs.1_Missense_Mutation_p.L427P	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATGTGTAGTAAGATGAGAGGA	0.333000														36			11		0	0	0.001855	0	0
FADS3	3995	broad.mit.edu	37	11	61643379	61643379	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:61643379C>T	uc001nsm.3	-	10	1383	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	410					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGAGGCCGTGCTTGGCACACA	0.657000														121			49		0	0	0.003610	0	0
OR6M1	390261	broad.mit.edu	37	11	123676125	123676125	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:123676125C>T	uc010rzz.2	-	0	933	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTCAAGTTTTCCTTTGTATCA	0.373000														12			6		0	0	0.004482	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677050	36677050	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:36677050G>A	uc003jkj.4	+	5	1100	c.624G>A	c.(622-624)acG>acA	p.T208T	SLC1A3_uc011cox.2_Silent_p.T101T|SLC1A3_uc010iuy.3_Silent_p.T208T	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	208					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T208M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CCAACGAAACGCTTGTGGGTG	0.428000														11			7		0	0	0.003080	0	0
RASEF	158158	broad.mit.edu	37	9	85611959	85611959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:85611959G>A	uc004amo.1	-	13	2149	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	630					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding	p.F629V(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CGTATGTTAAGAAAGCTTTTC	0.368000														13			9		0	0	0.006214	0	0
DMBT1	1755	broad.mit.edu	37	10	124402885	124402885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:124402885C>T	uc001lgk.1	+	52	7319	c.7213C>T	c.(7213-7215)Ccc>Tcc	p.P2405S	DMBT1_uc001lgl.1_Missense_Mutation_p.P2395S|DMBT1_uc001lgm.1_Missense_Mutation_p.P1777S|DMBT1_uc021qaf.1_Missense_Mutation_p.P2405S|DMBT1_uc021qag.1_Missense_Mutation_p.P2395S|DMBT1_uc021qah.1_Missense_Mutation_p.P1777S|DMBT1_uc009xzz.1_Missense_Mutation_p.P2404S|DMBT1_uc010qtx.1_Missense_Mutation_p.P1125S|DMBT1_uc009yab.1_Missense_Mutation_p.P1108S|DMBT1_uc009yac.1_Missense_Mutation_p.P699S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2405				P -> A (in Ref. 5; CAC44122).	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCAGACCCCCCCACGCCG	0.637000														2			18		0	0	0.004990	0	0
TINAG	27283	broad.mit.edu	37	6	54208096	54208096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:54208096G>A	uc003pcj.2	+	4	843	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	233					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)			ATGGACTCATGGCCCATTGGA	0.388000														8			5		0	0	0.001168	0	0
PABPC3	5042	broad.mit.edu	37	13	25671427	25671427	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:25671427A>T	uc001upy.3	+	0	1152	c.1091A>T	c.(1090-1092)tAt>tTt	p.Y364F		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	364	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGCCATTGTATGTAGCTTTA	0.483000														48			94		0	0	0.003610	0	0
ABCB10	23456	broad.mit.edu	37	1	229683350	229683350	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:229683350T>A	uc001htp.4	-	2	860	c.817A>T	c.(817-819)Aac>Tac	p.N273Y		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.	273	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.I272N(1)		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)				GAGAGGCGGTTAATCAATTCT	0.527000														32			33		0	0	0.003755	0	0
A2M	2	broad.mit.edu	37	12	9223141	9223141	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:9223141C>T	uc001qvk.1	-	31	4250	c.4137G>A	c.(4135-4137)gcG>gcA	p.A1379A	A2M_uc009zgk.1_Silent_p.A1229A	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1379					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CATCAACGATCGCCATGTTGG	0.438000														13			12		0	0	0.002450	0	0
SUSD2	56241	broad.mit.edu	37	22	24580780	24580780	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:24580780C>T	uc002zzn.1	+	4	698	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	218					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CGTACCTGTACCCCCTGGCCA	0.597000														44			11		0	0	0.001368	0	0
SPATA22	84690	broad.mit.edu	37	17	3352263	3352263	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3352263T>A	uc002fvm.3	-	5	748	c.510A>T	c.(508-510)aaA>aaT	p.K170N	SPATA22_uc010vrg.2_Missense_Mutation_p.K154N|SPATA22_uc010vrf.2_Missense_Mutation_p.K170N|SPATA22_uc002fvo.3_Missense_Mutation_p.K170N|SPATA22_uc002fvn.3_Missense_Mutation_p.K170N|SPATA22_uc002fvp.3_Missense_Mutation_p.K170N|SPATA22_uc010ckf.3_Missense_Mutation_p.K127N	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	170										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GCTCGGTTTCTTTGTTGCGAG	0.398000														56			23		0	0	0.001786	0	0
RYR2	6262	broad.mit.edu	37	1	237880620	237880620	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:237880620C>T	uc001hyl.1	+	71	10566	c.10446C>T	c.(10444-10446)gcC>gcT	p.A3482A	RYR2_uc010pxz.1_Silent_p.A437A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3482					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P3481H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATCTGTGCCCCTGGGGACC	0.502000														18			5		0	0	0.000602	0	0
OR13C8	138802	broad.mit.edu	37	9	107331863	107331863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:107331863G>A	uc011lvo.2	+	0	415	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K138K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CATGAGCAAGGGTGCCTATGT	0.547000														42			21		0	0	0.001882	0	0
DNAH11	8701	broad.mit.edu	37	7	21924013	21924013	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:21924013C>T	uc003svc.3	+	76	12544	c.12513C>T	c.(12511-12513)ttC>ttT	p.F4171F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4171					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGAAGAATTCATGAATCCAT	0.348000									Kartagener syndrome					25			6		0	0	0.003080	0	0
LY86	9450	broad.mit.edu	37	6	6625158	6625158	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:6625158G>A	uc003mwy.1	+	2	171	c.137_splice	c.e2-1	p.D46_splice	LY86-AS1_uc003mww.4_5'Flank|LY86-AS1_uc003mwx.2_5'Flank	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	46					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CTTCTTCGTAGATCCATTACA	0.274000														13			6		0	0	0.003080	0	0
LILRA1	11024	broad.mit.edu	37	19	55086778	55086778	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55086778G>A	uc010ern.3	+	5	1180	c.711G>A	c.(709-711)ggG>ggA	p.G237G	LILRA1_uc002qgg.4_Silent_p.G237G|LILRA1_uc002qgf.3_Silent_p.G237G|LILRA1_uc010yfe.1_Silent_p.G237G|LILRA1_uc010yff.1_Silent_p.G225G|LILRA1_uc010ero.3_Silent_p.G225G|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	239	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGCCCCCGGGGAGAGCCTGA	0.567000														88			22		0	0	0.003954	0	0
ATF7	11016	broad.mit.edu	37	12	53925563	53925563	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53925563G>A	uc001sdy.3	-	7	946	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Nonsense_Mutation_p.Q298*|ATF7_uc010sol.2_Nonsense_Mutation_p.Q277*	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	309					interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						TCAGGGTGCTGGATGAGAATC	0.502000														16			15		0	0	0.004007	0	0
C3	718	broad.mit.edu	37	19	6712574	6712574	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6712574A>T	uc002mfm.3	-	9	1126	c.1064T>A	c.(1063-1065)aTc>aAc	p.I355N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	355					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTGAAGTGGATCTGGTAGGG	0.617000														174			116		0	0	0.003610	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198805	170198805	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:170198805G>A	uc003fgz.2	-	6	1582	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	422						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CACAGACAGAGACCAAGGTGT	0.527000														28			16		0	0	0.007413	0	0
IL36B	27177	broad.mit.edu	37	2	113780333	113780333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:113780333G>A	uc002tiq.1	-	5	517	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	138					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATGTTGAAAGGAACTCTTCCA	0.433000														22			8		0	0	0.006214	0	0
AHSG	197	broad.mit.edu	37	3	186338420	186338420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186338420C>T	uc003fqk.4	+	6	886	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	269					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.P269T(4)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGAAGCAGTCCCCACACCCGT	0.597000														95			47		0	0	0.003610	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654619	49654619	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:49654619A>G	uc001jgu.3	-	9	2257	c.1960T>C	c.(1960-1962)Tta>Cta	p.L654L	ARHGAP22_uc001jgs.3_Silent_p.L548L|ARHGAP22_uc001jgt.3_Silent_p.L638L|ARHGAP22_uc010qgl.2_Silent_p.L595L|ARHGAP22_uc010qgm.2_Silent_p.L644L|ARHGAP22_uc001jgv.3_Silent_p.L336L|ARHGAP22_uc001jgr.3_Silent_p.L355L	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	638					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTCTTCTAACCGGGACATT	0.502000														21			8		0	0	0.003080	0	0
ALOX12	239	broad.mit.edu	37	17	6913638	6913638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:6913638G>A	uc002gdx.4	+	13	1941	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron|ALOX12_uc002gdz.4_Missense_Mutation_p.D100N|RNASEK_uc021tow.1_5'Flank|RNASEK_uc002gea.3_5'Flank|C17orf49_uc002gec.3_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	630	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATTCCGAACAGATTTGGAAAA	0.473000														61			27		0	0	0.005443	0	0
EPB41L2	2037	broad.mit.edu	37	6	131220710	131220710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:131220710G>A	uc003qch.2	-	7	1339	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	EPB41L2_uc010kfl.2_Missense_Mutation_p.S386L|EPB41L2_uc003qcg.1_Missense_Mutation_p.S386L|EPB41L2_uc003qci.3_Missense_Mutation_p.S386L|EPB41L2_uc011eby.2_Missense_Mutation_p.S386L|EPB41L2_uc010kfk.2_Missense_Mutation_p.S386L	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	386	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTGTGCTGGCGATAAGCCCCT	0.433000														0			13		0	0	0.001368	0	0
KNG1	3827	broad.mit.edu	37	3	186437937	186437937	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186437937A>T	uc011bsa.2	+	1	473	c.239A>T	c.(238-240)gAg>gTg	p.E80V	KNG1_uc003fqr.3_Missense_Mutation_p.E80V|KNG1_uc021xil.1_Missense_Mutation_p.E80V	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	80	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GAAATCAAGGAGGGGGATTGT	0.448000														77			24		0	0	0.001512	0	0
HM13	81502	broad.mit.edu	37	20	30142633	30142633	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:30142633G>A	uc002wwc.3	+	8	922	c.808_splice	c.e8+1	p.G270_splice	HM13_uc002wwd.3_Splice_Site_p.G270_splice|HM13_uc002wwe.3_Splice_Site_p.G270_splice|HM13_uc002wwf.3_Splice_Site_p.G146_splice	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	270					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTCATTCCAGGTGAGCCTGCT	0.557000														63			15		0	0	0.004007	0	0
SLC38A10	124565	broad.mit.edu	37	17	79256043	79256044	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79256043_79256044GG>AA	uc002jzz.1	-	4	821_822	c.446_447CC>TT	c.(445-447)tcc>tTT	p.S149F	SLC38A10_uc002jzy.1_Missense_Mutation_p.S67F|SLC38A10_uc002kab.3_Missense_Mutation_p.S149F	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	149					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGACTGGATGGAGGCCATCAT	0.649000														51			16		0	0	0.004672	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2019079	2019079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:2019079G>A	uc021qsx.1	-	3	710	c.479C>T	c.(478-480)tCc>tTc	p.S160F	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.S160F	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	160						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CACCACCAGGGATTCATTGAA	0.602000														20			5		0	0	0.004482	0	0
WDR24	84219	broad.mit.edu	37	16	737365	737365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:737365C>T	uc002ciz.1	-	2	1471	c.711G>A	c.(709-711)atG>atA	p.M237I	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	323										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GGTGCGTGGTCATGTCCCAGA	0.637000														31			33		0	0	0.003271	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503404	140503404	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140503404C>T	uc003lip.1	+	0	1824	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	608	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCAAGGCCACGGAGCCTG	0.716000														103			32		0	0	0.003271	0	0
RTN3	10313	broad.mit.edu	37	11	63487655	63487655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:63487655G>A	uc001nxq.3	+	2	1868	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.D449N|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.D542N|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	561					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						ATTGGTCAGTGACTCTGAGCT	0.408000														48			22		0	0	0.002780	0	0
EIF4G3	8672	broad.mit.edu	37	1	21183960	21183960	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:21183960T>C	uc001bec.3	-	19	3363	c.3107A>G	c.(3106-3108)aAc>aGc	p.N1036S	EIF4G3_uc010odi.2_Missense_Mutation_p.N640S|EIF4G3_uc010odj.2_Missense_Mutation_p.N1035S|EIF4G3_uc009vpz.3_Missense_Mutation_p.N756S|EIF4G3_uc001bef.3_Missense_Mutation_p.N1072S|EIF4G3_uc001bee.3_Missense_Mutation_p.N1042S	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1036					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTGTACAGTGTTCCACCCACC	0.463000														88			58		0	0	0.003610	0	0
CPNE5	57699	broad.mit.edu	37	6	36767803	36767803	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:36767803G>A	uc003omr.1	-	3	295	c.228C>T	c.(226-228)ttC>ttT	p.F76F	CPNE5_uc003oms.1_Silent_p.F38F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	76	C2 1.							p.F76F(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTGCGCACGAAGTCAGGAT	0.552000														32			22		0	0	0.003954	0	0
OR51E2	81285	broad.mit.edu	37	11	4703796	4703796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:4703796C>T	uc001lzk.2	-	1	390	c.146G>A	c.(145-147)aGg>aAg	p.R49K	OR51E2_uc021qcr.1_Missense_Mutation_p.R49K	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCGTTCCGTCCTTACGATGAA	0.517000														33			11		0	0	0.001368	0	0
GK	2710	broad.mit.edu	37	4	166200246	166200246	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:166200246C>T	uc003ird.3	-	0	930	c.552G>A	c.(550-552)tgG>tgA	p.W184*	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	184					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTGTCAAACTCCAAATAAGCC	0.418000														15			12		0	0	0.003163	0	0
NBPF1	55672	broad.mit.edu	37	1	16918448	16918448	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:16918448T>A	uc009vos.1	-	6	957	c.69A>T	c.(67-69)aaA>aaT	p.K23N	NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	23						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGGGCGCAATTTCTCGTTGA	0.512000														166			56		0	0	0.003610	0	0
TMEM173	340061	broad.mit.edu	37	5	138860759	138860759	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:138860759G>A	uc003lep.3	-	3	698	c.396C>T	c.(394-396)atC>atT	p.I132I		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	132					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	p.I132I(2)|p.L133F(1)		endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCCCAGGAGGATGTTCAGTG	0.602000														66			28		0	0	0.006320	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091721	16091721	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:16091721C>T	uc001axd.1	+	3	686	c.243C>T	c.(241-243)ttC>ttT	p.F81F	FBLIM1_uc001axe.1_Silent_p.F81F|FBLIM1_uc001axg.1_Silent_p.F81F|FBLIM1_uc001axh.1_Silent_p.F81F|FBLIM1_uc001axi.1_Silent_p.F81F	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	81	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TGCAGCTCTTCAATGGAGGTA	0.602000														16			16		0	0	0.004990	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132827	42132827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:42132827G>A	uc001zoo.4	+	7	921	c.881G>A	c.(880-882)aGc>aAc	p.S294N	JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.S294N|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.S63N|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	63	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TGGAACCAGAGCTTTCACTTC	0.617000														70			55		0	0	0.003610	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916943	42916943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:42916943C>T	uc003cmh.3	-	0	691	c.366G>A	c.(364-366)atG>atA	p.M122I	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	122					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGAGTGTATCATCTCATGGT	0.478000														54			25		0	0	0.006320	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257148	36257148	+	Silent	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:36257148G>T	uc011cow.2	-	10	1366	c.873C>A	c.(871-873)tcC>tcA	p.S291S	RANBP3L_uc003jkh.3_Silent_p.S266S	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	266	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATTCAATTAGGGAAGTATTTT	0.373000														28			7		2.0095e-06	3.80451e-06	0.001984	1	0
TTC21B	79809	broad.mit.edu	37	2	166771803	166771803	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:166771803G>A	uc002udk.3	-	14	2179	c.2046C>T	c.(2044-2046)gcC>gcT	p.A682A		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	682						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAGGCTGTTCGGCTGTAACAT	0.383000														61			39		0	0	0.006230	0	0
OR1D2	4991	broad.mit.edu	37	17	2996030	2996030	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:2996030G>A	uc010vrb.2	-	0	261	c.261C>T	c.(259-261)tcC>tcT	p.S87S		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	87					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTTTGTTATGGGACTGGAGGT	0.542000														45			24		0	0	0.003330	0	0
MUC4	4585	broad.mit.edu	37	3	195498540	195498540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:195498540C>T	uc021xjp.1	-	4	13381	c.13225G>A	c.(13225-13227)Ggg>Agg	p.G4409R	MUC4_uc003fuz.3_Silent_p.G88G|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.G150R|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.G150R|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.G173R|MUC4_uc003fvp.3_Missense_Mutation_p.G122R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1166					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATGTGGTCCCCCGACCAGTG	0.597000														25			18		0	0	0.001523	0	0
ZNF718	255403	broad.mit.edu	37	4	60037	60037	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:60037A>T	uc003fzv.1	+	2	373	c.217A>T	c.(217-219)Aaa>Taa	p.K73*	ZNF718_uc003fzt.4_Nonsense_Mutation_p.K73*|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GACAGCAGCCAAACCCCCAGG	0.483000														81			7		0	0	0.001984	0	0
ATXN2	6311	broad.mit.edu	37	12	111908033	111908033	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:111908033G>A	uc001tsj.3	-	19	3357	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	ATXN2_uc001tsh.3_Silent_p.V800V|ATXN2_uc001tsi.3_Silent_p.V776V|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Silent_p.V84V	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1065	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGACTATAGACATGAGGAT	0.413000														56			20		0	0	0.001216	0	0
TMC1	117531	broad.mit.edu	37	9	75404183	75404183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:75404183G>A	uc004aiz.1	+	14	1714	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	TMC1_uc010moz.1_Missense_Mutation_p.E350K|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.E246K|TMC1_uc010mpa.1_Missense_Mutation_p.E246K	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	392					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						GCGATCCCAGGAATTTGCACA	0.448000														42			26		0	0	0.002096	0	0
abParts	0	broad.mit.edu	37	14	106692098	106692098	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106692098G>A	uc021ser.1	-	1154		c.24988C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.483000														165			38		0	0	0.002522	0	0
MYO18B	84700	broad.mit.edu	37	22	26242110	26242110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:26242110C>T	uc003abz.1	+	18	3662	c.3412C>T	c.(3412-3414)Cct>Tct	p.P1138S	MYO18B_uc003aca.1_Missense_Mutation_p.P1019S|MYO18B_uc010guy.1_Missense_Mutation_p.P1020S|MYO18B_uc010guz.1_Missense_Mutation_p.P1019S|MYO18B_uc011aka.1_Missense_Mutation_p.P292S|MYO18B_uc011akb.1_Missense_Mutation_p.P651S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1138	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.P1139>?(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAGCTGCCTCCTGTGTGCCG	0.647000														16			7		0	0	0.004482	0	0
ABCC9	10060	broad.mit.edu	37	12	22065976	22065976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:22065976G>A	uc001rfh.3	-	5	861	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	ABCC9_uc001rfi.1_Missense_Mutation_p.R281W	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	281					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGGAGTCCGATTTGGATGA	0.363000														17			9		0	0	0.000978	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394754	233394754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:233394754G>A	uc001hvl.2	-	4	1089	c.854C>T	c.(853-855)cCa>cTa	p.P285L	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	285						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GACAGGTTCTGGAATCAGGAC	0.527000														6			9		0	0	0.006214	0	0
PEBP1	5037	broad.mit.edu	37	12	118582429	118582429	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:118582429A>G	uc001twu.1	+	3	530	c.385A>G	c.(385-387)Agg>Ggg	p.R129G	PEBP1_uc010szc.1_Missense_Mutation_p.R129G	NM_002567	NP_002558	P30086	PEBP1_HUMAN	Homo sapiens phosphatidylethanolamine binding protein 1 (PEBP1), mRNA.	129							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGCAGGACAGGCCGCTAAA	0.567000														15			6		0	0	0.001984	0	0
EPHA10	284656	broad.mit.edu	37	1	38181575	38181575	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:38181575G>A	uc001cbt.3	-	6		c.913C>T			EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript			Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCTGTCCTCGAGGAAGGGGG	0.512000														3			29		0	0	0.001786	0	0
ACP5	54	broad.mit.edu	37	19	11687173	11687173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11687173G>A	uc002msg.4	-	3	766	c.620C>T	c.(619-621)cCc>cTc	p.P207L	ACP5_uc002msh.4_Missense_Mutation_p.P207L|ACP5_uc002msi.4_Missense_Mutation_p.P207L|ACP5_uc002msj.4_Missense_Mutation_p.P207L	NM_001611	NP_001602	P13686	PPA5_HUMAN	Homo sapiens acid phosphatase 5, tartrate resistant (ACP5), transcript variant 4, mRNA.	207					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GGACCACACGGGGTAGTGGCC	0.667000														33			15		0	0	0.003163	0	0
NEB	4703	broad.mit.edu	37	2	152506828	152506828	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:152506828C>T	uc021vrb.1	-	51	7322	c.7293G>A	c.(7291-7293)gaG>gaA	p.E2431E	NEB_uc002txu.3_Silent_p.E2431E|NEB_uc021vrc.1_Silent_p.E2431E|NEB_uc010fnx.3_Silent_p.E2431E|NEB_uc021vrd.1_Silent_p.E2431E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2431					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTTTCTGCCTCTAAAGAAC	0.448000														19			5		0	0	0.000602	0	0
PRCC	5546	broad.mit.edu	37	1	156761537	156761537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:156761537C>T	uc001fqa.3	+	3	1422	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	378					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCCTGGTCCCCCCCCAGGA	0.522000			T	TFE3	papillary renal									31			32		0	0	0.003755	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341875	46341875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:46341875G>A	uc021qil.1	+	10	1754	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	CREB3L1_uc021qik.1_Missense_Mutation_p.S440N|CREB3L1_uc001ncg.3_Missense_Mutation_p.S74N	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	440					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GATGGCCGCAGCACCCTGCTG	0.647000			T	FUS	myxofibrosarcoma									19			6		0	0	0.001168	0	0
DPEP1	1800	broad.mit.edu	37	16	89704247	89704247	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:89704247C>T	uc010cin.3	+	9	1136	c.933C>T	c.(931-933)gtC>gtT	p.V311V	DPEP1_uc002fnr.4_Silent_p.V311V|DPEP1_uc002fns.4_Silent_p.V311V	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	311					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AACACAGGGTCCCTGAGGGGC	0.637000														29			13		0	0	0.001855	0	0
KCNA3	3738	broad.mit.edu	37	1	111216661	111216661	+	Silent	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:111216661C>G	uc001dzv.1	-	0	995	c.771G>C	c.(769-771)ccG>ccC	p.P257P		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	257						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCGGAACTCCGGCAGCGTCT	0.662000														44			21		0	0	0.001523	0	0
PHF2	5253	broad.mit.edu	37	9	96407999	96407999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:96407999C>T	uc004aub.3	+	3	535	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PHF2_uc011lug.1_Missense_Mutation_p.P13S	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	130					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CATCCTCGTCCCTAAGAAAGA	0.617000														27			32		0	0	0.002445	0	0
KDM3B	51780	broad.mit.edu	37	5	137722017	137722017	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:137722017A>C	uc003lcy.1	+	6	1287	c.1087A>C	c.(1087-1089)Aac>Cac	p.N363H	KDM3B_uc010jew.1_Missense_Mutation_p.N19H|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	363					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CACCAAAGAAAACGGCAGGAC	0.547000														132			56		0	0	0.003610	0	0
VWA3B	200403	broad.mit.edu	37	2	98834477	98834478	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:98834477_98834478CC>TT	uc002syo.3	+	13	2269_2270	c.2005_2006CC>TT	c.(2005-2007)cca>TTa	p.P669L	VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.P188L|VWA3B_uc002sym.3_Missense_Mutation_p.P669L|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.P326L|VWA3B_uc002syp.1_Missense_Mutation_p.P61L|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	669	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCCACTCCCCCAGAGGCTGTT	0.455000														32			6		0	0	0.004672	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965049	88965049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:88965049G>A	uc011khi.2	+	3	3291	c.2753G>A	c.(2752-2754)gGa>gAa	p.G918E		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	918						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTGCAGAAGGAGAGAGGACC	0.423000										HNSCC(36;0.09)				90			28		0	0	0.001786	0	0
FYB	2533	broad.mit.edu	37	5	39202066	39202066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:39202066C>T	uc003jls.3	-	0	1064	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	FYB_uc003jlt.3_Missense_Mutation_p.E333K|FYB_uc003jlu.3_Missense_Mutation_p.E333K|FYB_uc011cpl.2_Missense_Mutation_p.E343K	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	333					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTCCCTTTTCCTTTTCCTGA	0.542000														13			5		0	0	0.000602	0	0
COL6A2	1292	broad.mit.edu	37	21	47542410	47542410	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47542410G>A	uc002zia.1	+	20	1655	c.1573_splice	c.e20-1	p.G525_splice	COL6A2_uc002zhz.1_Splice_Site_p.G525_splice|COL6A2_uc002zhy.1_Splice_Site_p.G525_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	525	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGCTTCACAGGGAGAAAAAGG	0.647000														91			9		0	0	0.001368	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238539	71238539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:71238539G>A	uc001oqq.1	+	0	227	c.193G>A	c.(193-195)Gga>Aga	p.G65R		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	65	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGCTCCAAGGGAGGCTGTGG	0.657000														161			81		0	0	0.003610	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279743	73279743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:73279743C>T	uc003tzk.2	+	1	529	c.493C>T	c.(493-495)Ctc>Ttc	p.L165F	WBSCR28_uc003tzl.2_Missense_Mutation_p.L64F	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	165						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGGCAGGCAGCTCAGTAAGGT	0.627000														84			17		0	0	0.004007	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559171	140559171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140559171C>T	uc011dai.2	+	0	1801	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	519	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.687000														93			41		0	0	0.003610	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376398	138376398	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138376398C>T	uc022bpi.1	+	0	42	c.42C>T	c.(40-42)tcC>tcT	p.S14S	PPP1R26_uc004cfr.1_Silent_p.S14S	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	14						nucleolus	protein binding										CTCTCCAGTCCAAATGGGAGG	0.627000														39			63		0	0	0.003610	0	0
ATP10D	57205	broad.mit.edu	37	4	47582432	47582432	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:47582432C>T	uc003gxk.1	+	19	3749	c.3585C>T	c.(3583-3585)acC>acT	p.T1195T	ATP10D_uc003gxl.1_Silent_p.T443T	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1195					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TACCCCATACCTTCTGGATCA	0.378000														60			44		0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	32087696	32087696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:32087696G>A	uc003jhl.3	+	19	4530	c.4142G>A	c.(4141-4143)gGa>gAa	p.G1381E	PDZD2_uc003jhm.3_Missense_Mutation_p.G1381E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1381					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGCTGGAGGGAGCAGATTCT	0.582000														12			24		0	0	0.002780	0	0
TTC3	7267	broad.mit.edu	37	21	38538282	38538282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:38538282C>T	uc002yvz.3	+	32	3871	c.3766C>T	c.(3766-3768)Cca>Tca	p.P1256S	TTC3_uc011aee.1_Missense_Mutation_p.P946S|TTC3_uc002ywa.3_Missense_Mutation_p.P1256S|TTC3_uc002ywb.3_Missense_Mutation_p.P1256S|TTC3_uc010gnf.3_Missense_Mutation_p.P1021S|TTC3_uc002ywc.3_Missense_Mutation_p.P946S|TTC3_uc002ywd.1_Missense_Mutation_p.P320S	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1256					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAAGGCCAAACCAGTATCCGA	0.443000														2			36		0	0	0.006230	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595194	129595194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:129595194C>T	uc022bnm.1	+	0	406	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	ZBTB43_uc004bql.3_Missense_Mutation_p.H136Y|ZBTB43_uc010mxf.3_Missense_Mutation_p.H136Y	NM_014007	NP_054726	O43298	ZBT43_HUMAN	Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAGCTAAATCATGGCAGTGA	0.488000														42			19		0	0	0.001523	0	0
AGAP2	116986	broad.mit.edu	37	12	58122118	58122118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:58122118C>T	uc001spq.3	-	13	2600	c.2600G>A	c.(2599-2601)aGa>aAa	p.R867K	AGAP2_uc001spp.3_Missense_Mutation_p.R866K|AGAP2_uc001spr.3_Intron|LOC100130776_uc001sps.4_3'UTR	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	867	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATAAATATTTCTTAAACTACC	0.522000														36			14		0	0	0.004007	0	0
WDR65	149465	broad.mit.edu	37	1	43652459	43652459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:43652459G>A	uc021omk.1	+	5	1197	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.E340K|WDR65_uc001ciq.2_Missense_Mutation_p.E351K|WDR65_uc001cip.2_Missense_Mutation_p.E351K	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	351										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCTCAGAGGAAACTCTGGT	0.512000														9			7		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82544283	82544283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82544283G>A	uc003uhx.2	-	6	13308	c.13019C>T	c.(13018-13020)aCc>aTc	p.T4340I	PCLO_uc003uhv.2_Missense_Mutation_p.T4340I|PCLO_uc010lec.3_Missense_Mutation_p.T1305I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4271					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCAAACTGGTCGGCTTAGT	0.463000														8			6		0	0	0.006214	0	0
MYBL1	4603	broad.mit.edu	37	8	67509630	67509630	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:67509630G>A	uc003xwj.3	-	4	854	c.447C>T	c.(445-447)atC>atT	p.I149I	MYBL1_uc003xwl.3_Silent_p.I149I|MYBL1_uc003xwk.3_Silent_p.I149I	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	149	HTH myb-type 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I149T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CTTCATAGATGATCCTGTCCT	0.383000														19			8		0	0	0.004482	0	0
PDHA2	5161	broad.mit.edu	37	4	96761627	96761627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:96761627C>T	uc003htr.4	+	0	389	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	109					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATAAACCCCTCGGATCACGTC	0.527000														68			38		0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712801	70712801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70712801G>A	uc010ttg.2	-	0	1718	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		GCAATTCTGAGATGCACTTTT	0.398000														83			26		0	0	0.001512	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492249	85492249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:85492249C>T	uc001tac.3	+	11	3115	c.3004C>T	c.(3004-3006)Cat>Tat	p.H1002Y	LRRIQ1_uc021rbo.1_Missense_Mutation_p.H880Y	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1002										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTCCCATAATCATCTTACTGA	0.333000														20			12		0	0	0.001368	0	0
GPR133	283383	broad.mit.edu	37	12	131476909	131476909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:131476909C>T	uc010tbm.2	+	8	1593	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	GPR133_uc001uit.4_Missense_Mutation_p.S313L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	313					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S344S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AAGTCCCTCTCGGAGCAGACA	0.493000														87			47		0	0	0.003610	0	0
NID1	4811	broad.mit.edu	37	1	236189399	236189399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:236189399G>A	uc001hxo.3	-	7	1883	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	NID1_uc009xgd.3_Missense_Mutation_p.P594L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	594	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.P594P(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ATCTCGCTCGGGCTCAGTCAC	0.597000														41			33		0	0	0.002836	0	0
TAF1L	138474	broad.mit.edu	37	9	32633240	32633240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:32633240C>T	uc003zrg.1	-	0	2428	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	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.	780					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			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)		ATCAGAAAATCAGTTTCTGGC	0.453000														4			41		0	0	0.003214	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619137	43619137	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:43619137G>A	uc003bdt.2	-	10	1420	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	431					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGCAGGAAAGGAAGCAGCTCT	0.637000														143			31		0	0	0.002096	0	0
CPB1	1360	broad.mit.edu	37	3	148559660	148559660	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:148559660C>T	uc003ewl.3	+	5	548	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	175					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTGTGGTTTCCATGCCAGAG	0.408000														53			18		0	0	0.001523	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202153479	202153479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:202153479C>T	uc010ftg.3	-	14	1681	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	ALS2CR12_uc002uya.4_Missense_Mutation_p.E390K|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	413					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TCACAAATTTCTTCATTCTTA	0.368000														50			16		0	0	0.004007	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046938	76046938	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:76046938T>C	uc002jud.2	+	3	2395	c.1795T>C	c.(1795-1797)Tgg>Cgg	p.W599R	TNRC6C_uc002juf.2_Missense_Mutation_p.W599R|TNRC6C_uc002jue.2_Missense_Mutation_p.W599R	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	599	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGGGGAGATTGGGCAGATTC	0.527000														58			30		0	0	0.001786	0	0
OTOA	146183	broad.mit.edu	37	16	21739615	21739615	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:21739615T>C	uc002djh.3	+	18	2071	c.2070T>C	c.(2068-2070)tgT>tgC	p.C690C	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.C611C|OTOA_uc002dji.3_Silent_p.C366C|OTOA_uc010vbk.2_Silent_p.C338C	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	704					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ACCTGCTGTGTCACTTGCCGG	0.567000														11			17		0	0	0.007413	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864765	22864765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:22864765G>A	uc003xcp.2	+	6	1356	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	RHOBTB2_uc011kzp.1_Missense_Mutation_p.R343Q|RHOBTB2_uc003xcq.2_Missense_Mutation_p.R336Q|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	336	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		caccaTGGGCGAGACTTCCTG	0.687000														51			20		0	0	0.007413	0	0
ROS1	6098	broad.mit.edu	37	6	117710870	117710870	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:117710870T>G	uc003pxp.1	-	11	1601	c.1402A>C	c.(1402-1404)Att>Ctt	p.I468L	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	468					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGAAGTAAATGATTCGCTTG	0.483000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									2			12		0	0	0.000978	0	0
CECR1	51816	broad.mit.edu	37	22	17688074	17688074	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:17688074G>A	uc002zmk.1	-	1	641	c.429C>T	c.(427-429)atC>atT	p.I143I	CECR1_uc010gqu.1_Silent_p.I143I|CECR1_uc011agi.1_Silent_p.I101I|CECR1_uc011agj.1_Silent_p.I101I	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	143	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGAACTGCATGATCCCCCTTG	0.527000														57			58		0	0	0.003610	0	0
HSF5	124535	broad.mit.edu	37	17	56565288	56565288	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:56565288G>A	uc002iwi.1	-	0	472	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCGCGGCGGAAGTGCGGGT	0.706000														54			28		0	0	0.002836	0	0
LRRC10	376132	broad.mit.edu	37	12	70004427	70004427	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:70004427G>A	uc001svc.3	-	0	516	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	64						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGGCTATTGAGGTGGTTGT	0.577000														44			18		0	0	0.004990	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372556	151372556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:151372556G>A	uc003wkk.3	-	3	1245	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	PRKAG2_uc011kvl.2_Missense_Mutation_p.P88S|PRKAG2_uc003wkj.3_Missense_Mutation_p.P168S|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.P212S	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	212					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GGCCTGGTCGGGCTCTGGAAG	0.617000														37			26		0	0	0.007291	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633378	70633378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:70633378C>T	uc001xly.3	-	1	2516	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E588K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E588K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E588K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	588	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTCTTGAATTCCAACTCCCCA	0.493000														11			11		0	0	0.001855	0	0
GRM5	2915	broad.mit.edu	37	11	88781023	88781023	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:88781023G>A	uc001pcq.3	-	0	218	c.18C>T	c.(16-18)atC>atT	p.I6I	GRM5_uc009yvm.3_Silent_p.I6I|GRM5_uc009yvn.2_Silent_p.I6I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	6					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGACTGACAGGATCAACAGAA	0.478000														17			7		0	0	0.003080	0	0
RAB39B	116442	broad.mit.edu	37	X	154493499	154493499	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:154493499G>A	uc004fne.3	-	0	354	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	25					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAAGCGGCGGATCAGGCAGG	0.607000														62			75		0	0	0.003610	0	0
ABCC3	8714	broad.mit.edu	37	17	48755478	48755478	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48755478C>T	uc002isl.3	+	24	3683	c.3603C>T	c.(3601-3603)ttC>ttT	p.F1201F	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1201	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAGTGGAGTTCGTGGGGAACT	0.602000														39			46		0	0	0.003610	0	0
CAB39L	81617	broad.mit.edu	37	13	49885072	49885072	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:49885072G>A	uc001vcw.3	-	8	1390	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	CAB39L_uc001vcx.3_Nonsense_Mutation_p.Q298*|CAB39L_uc010adf.3_Nonsense_Mutation_p.Q295*	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	298					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AGTTTGGGCTGATTTTTTAAC	0.428000														235			94		0	0	0.003610	0	0
AP4S1	11154	broad.mit.edu	37	14	31542114	31542114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:31542114G>A	uc001wqw.4	+	3	618	c.229G>A	c.(229-231)Gag>Aag	p.E77K	AP4S1_uc021rry.1_Missense_Mutation_p.E77K|AP4S1_uc001wqx.4_Missense_Mutation_p.E77K|AP4S1_uc010amh.3_Missense_Mutation_p.E77K|AP4S1_uc001wqy.4_Missense_Mutation_p.E77K|AP4S1_uc021rrz.1_Missense_Mutation_p.E77K	NM_007077	NP_009008	Q9Y587	AP4S1_HUMAN	Homo sapiens adaptor-related protein complex 4, sigma 1 subunit (AP4S1), transcript variant 1, mRNA.	77						Golgi apparatus|coated pit	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		ATTGTAGAACGAGATGGCTAT	0.368000														74			14		0	0	0.006122	0	0
URGCP	55665	broad.mit.edu	37	7	43918515	43918515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:43918515G>A	uc003tiw.3	-	5	604	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P140S|URGCP_uc003tiv.3_Missense_Mutation_p.P108S|URGCP_uc003tix.3_Missense_Mutation_p.P174S|URGCP_uc003tiy.3_Missense_Mutation_p.P140S|URGCP_uc003tiz.3_Missense_Mutation_p.P140S|URGCP_uc011kbj.2_Missense_Mutation_p.P140S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	183					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTCTAAGGGGTTCACTGGC	0.527000														67			29		0	0	0.007291	0	0
RYR3	6263	broad.mit.edu	37	15	34040379	34040379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:34040379C>T	uc001zhi.3	+	53	8124	c.8054C>T	c.(8053-8055)aCt>aTt	p.T2685I	RYR3_uc010bar.3_Missense_Mutation_p.T2685I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2685	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGGGCTGGACTGTGGAGAGG	0.522000														12			5		0	0	0.001984	0	0
ADAM2	2515	broad.mit.edu	37	8	39634655	39634655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:39634655G>A	uc003xnj.3	-	10	992	c.917C>T	c.(916-918)tCa>tTa	p.S306L	ADAM2_uc003xnk.3_Missense_Mutation_p.S287L|ADAM2_uc011lck.2_Missense_Mutation_p.S306L|ADAM2_uc003xnl.3_Missense_Mutation_p.S180L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	306	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AACTGCAAGTGATTCCAGACT	0.363000														13			7		0	0	0.003080	0	0
CLTCL1	8218	broad.mit.edu	37	22	19178917	19178917	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:19178917G>A	uc021wle.1	-	26	4297	c.4222C>T	c.(4222-4224)Ctg>Ttg	p.L1408L	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Silent_p.L1408L|CLTCL1_uc011agw.1_Silent_p.L1387L|CLTCL1_uc011agt.2_Silent_p.L199L|CLTCL1_uc011agu.2_Silent_p.L199L	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1408	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGAACTGCAGGGCTCTGTAA	0.532000			T	?	ALCL									137			33		0	0	0.007835	0	0
CDHR1	92211	broad.mit.edu	37	10	85971426	85971427	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:85971426_85971427CC>TT	uc001kcv.3	+	13	1613_1614	c.1508_1509CC>TT	c.(1507-1509)ccc>cTT	p.P503L	CDHR1_uc001kcw.3_Missense_Mutation_p.P503L|CDHR1_uc009xst.3_Missense_Mutation_p.P207L|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	503	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GATACAGGACCCTGGGGCGAAG	0.569000														56			37		0	0	0.004672	0	0
ASMT	438	broad.mit.edu	37	X	1761856	1761856	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:1761856C>T	uc004cqd.3	+	9	1287	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ASMT_uc010ncy.3_Silent_p.F357F|ASMT_uc004cqe.3_Silent_p.F282F	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	329					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAGAGACTTCCAGTTTAAGA	0.473000														40			92		0	0	0.003610	0	0
R3HDM1	23518	broad.mit.edu	37	2	136473261	136473261	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:136473261C>T	uc002tuo.3	+	22	3143	c.2773C>T	c.(2773-2775)Caa>Taa	p.Q925*	R3HDM1_uc010fni.3_Nonsense_Mutation_p.Q924*|R3HDM1_uc002tup.3_Nonsense_Mutation_p.Q870*|R3HDM1_uc010zbh.2_Nonsense_Mutation_p.Q673*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	925							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TGTCCCCGGGCAAGGTAAGTG	0.453000														36			47		0	0	0.003610	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427070	71427070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:71427070C>T	uc004eaq.1	-	1	1644	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.R393Q	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	516	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTTTTTTCTCGTTCCAAAAG	0.368000														47			11		0	0	0.000978	0	0
DENND3	22898	broad.mit.edu	37	8	142160972	142160972	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142160972C>T	uc003yvy.3	+	5	813	c.535C>T	c.(535-537)Cga>Tga	p.R179*	DENND3_uc010mep.3_Nonsense_Mutation_p.R192*	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	179	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTTACCTGCCCGAGCAGACCC	0.597000														131			90		0	0	0.003610	0	0
CNGB3	54714	broad.mit.edu	37	8	87655992	87655992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:87655992C>T	uc003ydx.3	-	9	1213	c.1165G>A	c.(1165-1167)Ggg>Agg	p.G389R	CNGB3_uc010maj.3_Missense_Mutation_p.G251R	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	389					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTCCTTCCCCATCATACACC	0.343000														23			4		0	0	0.001168	0	0
GLT6D1	360203	broad.mit.edu	37	9	138515950	138515950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138515950G>A	uc010nbd.1	-	4	1078	c.824C>T	c.(823-825)cCc>cTc	p.P275L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	275					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CAGCTAGGTGGGTTTATTGAG	0.388000														63			22		0	0	0.002299	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937231	102937231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:102937231G>A	uc001phm.3	-	4	750	c.407C>T	c.(406-408)tCg>tTg	p.S136L	DCUN1D5_uc010ruw.2_Missense_Mutation_p.S67L	NM_032299	NP_115675	Q9BTE7	DCNL5_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) (DCUN1D5), mRNA.	136	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTTAAATGACGAAATATCATT	0.303000														17			22		0	0	0.002780	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520778	33520778	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:33520778C>T	uc002hjd.2	-	0	635	c.549G>A	c.(547-549)ggG>ggA	p.G183G		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	183						integral to membrane		p.G183G(1)									CACCCGTGGTCCCCTCCTGTA	0.592000														70			115		0	0	0.003610	0	0
SMYD4	114826	broad.mit.edu	37	17	1703600	1703600	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:1703600A>C	uc002ftm.4	-	4	1256	c.1088T>G	c.(1087-1089)gTt>gGt	p.V363G	SMYD4_uc002ftn.1_Missense_Mutation_p.V218G	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	363							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GATTTTGCGAACATCCTCAAA	0.448000														58			14		0	0	0.001855	0	0
NINL	22981	broad.mit.edu	37	20	25460860	25460860	+	Silent	SNP	C	A	A	rs148838435		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:25460860C>A	uc002wux.1	-	14	1928	c.1854G>T	c.(1852-1854)acG>acT	p.T618T	NINL_uc010gdn.1_Silent_p.T618T|NINL_uc010gdo.1_Silent_p.T401T	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	618					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCATCAGCTCCGTTTCTATAC	0.557000														96			6		0.00307968	0.00580777	0.003080	1	0
CYP46A1	10858	broad.mit.edu	37	14	100173984	100173984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:100173984G>A	uc001ygo.3	+	6	662	c.662G>A	c.(661-663)gGa>gAa	p.G221E	CYP46A1_uc001ygn.1_Missense_Mutation_p.G183E|CYP46A1_uc001ygp.3_Missense_Mutation_p.G68E	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	221					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ATGTTGGAGGGAATCACTGCG	0.567000														48			50		0	0	0.003610	0	0
X06774	0	broad.mit.edu	37	7	38370115	38370115	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:38370115G>A	uc010kxj.1	-	1	319	c.183C>T	c.(181-183)gcC>gcT	p.A61A	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		GACGCTGTGGGGCCTTCCCCT	0.493000														36			28		0	0	0.001786	0	0
APOH	350	broad.mit.edu	37	17	64210719	64210719	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:64210719C>T	uc002jfn.4	-	6	893	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	278	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTTTACTCTCTCTCCTTGGT	0.363000														65			17		0	0	0.004990	0	0
ASXL3	80816	broad.mit.edu	37	18	31320206	31320206	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:31320206C>T	uc010dmg.1	+	10	2893	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S	ASXL3_uc002kxq.2_Silent_p.S653S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGAGCCCTCCAAGTCACCTG	0.413000														22			11		0	0	0.000673	0	0
KRT28	162605	broad.mit.edu	37	17	38949420	38949420	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38949420C>T	uc002hvh.1	-	6	1305	c.1239G>A	c.(1237-1239)ggG>ggA	p.G413G		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	413	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGATGAATTCCCAGGGCTTC	0.333000														18			4		0	0	0.000248	0	0
VARS	7407	broad.mit.edu	37	6	31762910	31762910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31762910C>T	uc003nxe.3	-	1	508	c.85G>A	c.(85-87)Gag>Aag	p.E29K	VARS_uc011doi.1_Intron	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	29					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCGGGACCCTCCCCAGCCTCC	0.672000														150			79		0	0	0.003610	0	0
BARX2	8538	broad.mit.edu	37	11	129306768	129306768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:129306768G>A	uc001qfc.4	+	1	360	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	104										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCAGGTCACCGAGGCGGTCTC	0.697000														45			21		0	0	0.001523	0	0
NLRP12	91662	broad.mit.edu	37	19	54313058	54313058	+	Missense_Mutation	SNP	C	T	T	rs139082917		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54313058C>T	uc002qcj.4	-	2	2075	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E619K|NLRP12_uc002qci.4_Missense_Mutation_p.E619K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E619K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	619					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCTGGATCTCGTACAAGCAG	0.557000														67			35		0	0	0.002836	0	0
RARA	5914	broad.mit.edu	37	17	38508718	38508718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38508718G>A	uc021txb.1	+	4	1128	c.766G>A	c.(766-768)Gac>Aac	p.D256N	RARA_uc002huk.2_Missense_Mutation_p.D256N|RARA_uc002hul.4_Missense_Mutation_p.D256N|RARA_uc010wfe.2_Missense_Mutation_p.D159N|RARA_uc002hun.2_Missense_Mutation_p.D251N	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	256	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.D256Y(2)|p.A255T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACCATCGCCGACCAGATCAC	0.602000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL									48			19		0	0	0.001216	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819947	25819947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:25819947C>T	uc003nfh.4	-	3	520	c.404G>A	c.(403-405)tGg>tAg	p.W135*	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.W135*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.W133*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	135					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TACAACGACCCAAGCTACTCC	0.408000														18			12		0	0	0.001855	0	0
F8	2157	broad.mit.edu	37	X	154158767	154158767	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:154158767T>C	uc004fmt.3	-	13	3469	c.3298A>G	c.(3298-3300)Aaa>Gaa	p.K1100E		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1100	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGCCCTCTTTTTTCTGTTGG	0.388000														14			16		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9047882	9047882	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9047882A>G	uc002mkp.3	-	4	33953	c.33749T>C	c.(33748-33750)gTt>gCt	p.V11250A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11252	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAAGTTGGAACAACAGAACT	0.483000														16			6		0	0	0.001168	0	0
EPHA3	2042	broad.mit.edu	37	3	89480399	89480399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:89480399G>A	uc003dqy.3	+	12	2461	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N	EPHA3_uc021xbf.1_Missense_Mutation_p.D746N	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	746	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTTCACCGAGACCTCGCTGC	0.498000										TSP Lung(6;0.00050)				9			4		0	0	0.000248	0	0
KMO	8564	broad.mit.edu	37	1	241725503	241725503	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:241725503C>T	uc009xgp.3	+	6	797	c.486C>T	c.(484-486)ctC>ctT	p.L162L	KMO_uc001hyy.3_Silent_p.L202L|KMO_uc009xgo.2_Silent_p.L202L	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	162					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CTTGTGACCTCATTGTAGGAT	0.393000														26			6		0	0	0.003080	0	0
ITGAM	3684	broad.mit.edu	37	16	31273024	31273024	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:31273024T>A	uc002ebr.3	+	1	138	c.40T>A	c.(40-42)Tgt>Agt	p.C14S	ITGAM_uc002ebq.3_Missense_Mutation_p.C14S	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	14					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTGACCTTATGTCATGGGTT	0.537000														7			5		0	0	0.001168	0	0
VWA3B	200403	broad.mit.edu	37	2	98846544	98846544	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:98846544A>G	uc002syo.3	+	15	2446	c.2182A>G	c.(2182-2184)Acc>Gcc	p.T728A	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.T247A|VWA3B_uc002sym.3_Missense_Mutation_p.T728A|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.T385A|VWA3B_uc002syp.1_Missense_Mutation_p.T120A|VWA3B_uc002syq.1_Missense_Mutation_p.T4A|VWA3B_uc002syr.1_Missense_Mutation_p.T45A	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	728										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TATGATTTCAACCCCAGAAAA	0.378000														75			27		0	0	0.002836	0	0
CDC25B	994	broad.mit.edu	37	20	3785567	3785567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:3785567C>T	uc002wjn.3	+	15	2480	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	CDC25B_uc010zqk.2_Missense_Mutation_p.R504W|CDC25B_uc010zql.2_Missense_Mutation_p.R490W|CDC25B_uc010zqm.2_Missense_Mutation_p.R477W|CDC25B_uc002wjl.3_Missense_Mutation_p.R456W|CDC25B_uc002wjm.3_Missense_Mutation_p.R456W|CDC25B_uc021waa.1_Missense_Mutation_p.R415W|CDC25B_uc002wjo.3_Missense_Mutation_p.R554W|CDC25B_uc002wjp.3_Missense_Mutation_p.R527W|CDC25B_uc002wjq.3_Missense_Mutation_p.R368W	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	568					G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGCTGGGGAGCGGAGCCGGCG	0.642000														114			26		0	0	0.001512	0	0
DCHS1	8642	broad.mit.edu	37	11	6662651	6662651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6662651C>T	uc001mem.1	-	1	595	c.194G>A	c.(193-195)aGt>aAt	p.S65N		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	65	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCCCCGCACTGATGTCGCC	0.637000														22			6		0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11666863	11666863	+	Missense_Mutation	SNP	G	A	A	rs140313224		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11666863G>A	uc002gne.3	+	35	7170	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH9_uc010coo.3_Missense_Mutation_p.E1662K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2368					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2368K(2)		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)		CTGCCCTAAGGAAATTTATGA	0.493000														66			29		0	0	0.001512	0	0
CECR2	27443	broad.mit.edu	37	22	18028669	18028669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:18028669C>T	uc010gqw.1	+	15	3620	c.3620C>T	c.(3619-3621)cCc>cTc	p.P1207L	CECR2_uc010gqv.1_Missense_Mutation_p.P1067L|CECR2_uc002zml.2_Missense_Mutation_p.P1068L|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1251					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGTCAGCCTCCCCCACCAAGG	0.562000														53			20		0	0	0.007413	0	0
SHCBP1	79801	broad.mit.edu	37	16	46617489	46617489	+	Silent	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:46617489A>C	uc002eec.4	-	11	1672	c.1632T>G	c.(1630-1632)gtT>gtG	p.V544V		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	544										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCACCAAGACAACACCATAAC	0.308000														28			13		0	0	0.002450	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471643	39471643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39471643C>T	uc002hwj.3	-	0	305	c.260G>A	c.(259-261)gGc>gAc	p.G87D		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA.	87						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCACCCGGAGCCgcagcaact	0.622000														27			10		0	0	0.000978	0	0
GLT1D1	144423	broad.mit.edu	37	12	129373194	129373194	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:129373194C>T	uc010tbh.1	+	2	204	c.195C>T	c.(193-195)atC>atT	p.I65I	GLT1D1_uc001uhx.1_Silent_p.I76I|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	76					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCCACCGAATCCCTTTTGGAG	0.448000														25			9		0	0	0.000673	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065008	62065008	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:62065008A>G	uc001ntd.1	-	1	232	c.178T>C	c.(178-180)Ttg>Ctg	p.L60L		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA.	60						extracellular region	binding			lung(1)|prostate(1)	2						TTCACTTCCAACTTGGCTGCA	0.423000														47			114		0	0	0.003610	0	0
SIN3A	25942	broad.mit.edu	37	15	75674004	75674004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:75674004C>T	uc002bai.3	-	17	3497	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	SIN3A_uc002baj.3_Missense_Mutation_p.E1080K|SIN3A_uc010uml.2_Missense_Mutation_p.E1080K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1080					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCCAGAAGCTCAATAGTCAGC	0.483000														99			25		0	0	0.007291	0	0
FZR1	51343	broad.mit.edu	37	19	3533377	3533377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3533377C>T	uc010dtk.2	+	10	1362	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	FZR1_uc002lxt.2_Missense_Mutation_p.S443F|FZR1_uc002lxv.2_Missense_Mutation_p.S354F	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	443					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGCACTCCTACCGCGTG	0.632000														46			19		0	0	0.001523	0	0
ROBO3	64221	broad.mit.edu	37	11	124740918	124740918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124740918C>T	uc001qbc.3	+	6	1211	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	348	Ig-like C2-type 4.				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)		AGTCCCACCCCAGTTGGTGAC	0.577000														61			19		0	0	0.001216	0	0
MUC16	94025	broad.mit.edu	37	19	9010671	9010671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9010671G>A	uc002mkp.3	-	37	39194	c.38990C>T	c.(38989-38991)cCa>cTa	p.P12997L	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12999					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGGAGGATGGAGTCCCTGA	0.498000														6			5		0	0	0.000602	0	0
TCP11	6954	broad.mit.edu	37	6	35088242	35088242	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:35088242G>A	uc003okd.2	-	6	1117	c.936C>T	c.(934-936)ctC>ctT	p.L312L	TCP11_uc003ojz.1_Silent_p.L237L|TCP11_uc003oka.2_Silent_p.L237L|TCP11_uc003okb.2_Silent_p.L236L|TCP11_uc011dsu.1_Silent_p.L294L|TCP11_uc003okc.2_Silent_p.L236L|TCP11_uc011dsv.1_Silent_p.L261L|TCP11_uc011dsw.1_Silent_p.L266L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	299					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CCCAGAGAAGGAGGTTCAAGA	0.567000														29			16		0	0	0.001882	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197488	8197488	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8197488C>T	uc001qtu.3	+	5	1836	c.751C>T	c.(751-753)Cta>Tta	p.L251L	FOXJ2_uc001qtt.1_Silent_p.L251L	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	251					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTTTCAGGATCTAAGCTGGTC	0.527000														162			73		0	0	0.003610	0	0
C15orf2	23742	broad.mit.edu	37	15	24922292	24922292	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:24922292C>T	uc001ywo.3	+	0	1752	c.1278C>T	c.(1276-1278)atC>atT	p.I426I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	426	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTTTGCCCATCCCTGACTTGG	0.547000														50			53		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179584732	179584732	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179584732G>A	uc021vsy.1	-	77	20130	c.19905C>T	c.(19903-19905)tgC>tgT	p.C6635C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.C3296C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7562	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTGCAGAGCATTCTCTCA	0.388000														4			3		0	0	0.004672	0	0
SPTA1	6708	broad.mit.edu	37	1	158585143	158585143	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158585143C>T	uc001fst.1	-	47	6850	c.6651G>A	c.(6649-6651)gtG>gtA	p.V2217V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2217					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCCCAGGTCCACAATCTTGG	0.493000														47			32		0	0	0.003755	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498475	66498475	+	RNA	SNP	C	T	T	rs114233858	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:66498475C>T	uc011dxw.2	+	0		c.704C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		GGTCCTCTTTCGACAACAGCT	0.443000														36			35		0	0	0.007835	0	0
RPS5	6193	broad.mit.edu	37	19	58899606	58899606	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:58899606C>T	uc002qsn.3	+	1	174	c.102C>T	c.(100-102)tcC>tcT	p.S34S	MIR4754_uc021vcy.1_5'Flank	NM_001009	NP_001000	P46782	RS5_HUMAN	Homo sapiens ribosomal protein S5 (RPS5), mRNA.	34					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		ATGACATTTCCCTGCAGGTGA	0.542000														19			4		0	0	0.000248	0	0
IDS	3423	broad.mit.edu	37	X	148585715	148585715	+	Missense_Mutation	SNP	C	T	T	rs113993954		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:148585715C>T	uc011mxe.2	-	1	429	c.212G>A	c.(211-213)aGc>aAc	p.S71N	IDS_uc011mxf.2_5'UTR|IDS_uc011mxg.2_5'UTR|IDS_uc010nsu.2_Intron|IDS_uc004fcw.4_Intron|IDS_uc011mxh.2_Missense_Mutation_p.S71N|IDS_uc011mxi.2_Non-coding_Transcript|IDS_uc011mxj.2_Missense_Mutation_p.S71N	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	71			S -> N (in MPS2; mild form).|S -> R (in MPS2; severe form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAAGAGGAGGCTGTGGGATGC	0.572000														29			6		0	0	0.001984	0	0
ASH1L	55870	broad.mit.edu	37	1	155385688	155385688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:155385688G>A	uc009wqq.3	-	5	6335	c.5855C>T	c.(5854-5856)cCc>cTc	p.P1952L	ASH1L_uc001fkt.3_Missense_Mutation_p.P1952L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1952					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAAGGACTGGGAATCTCAAC	0.388000														50			9		0	0	0.006214	0	0
ZNF705A	440077	broad.mit.edu	37	12	8330010	8330010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8330010G>A	uc001qud.1	+	4	806	c.734G>A	c.(733-735)aGa>aAa	p.R245K	FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244Q(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AACCTTCGAAGACATGAGAGA	0.383000														216			74		0	0	0.003610	0	0
TBCE	6905	broad.mit.edu	37	1	235599097	235599097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:235599097C>T	uc010pxr.1	+	9	1051	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Missense_Mutation_p.L259F|TBCE_uc001hxa.1_Missense_Mutation_p.L259F|TBCE_uc001hxb.1_Missense_Mutation_p.L146F	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	259					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GTTATTAGATCTTTCCTCTAA	0.358000														156			38		0	0	0.002522	0	0
GPR61	83873	broad.mit.edu	37	1	110086695	110086695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:110086695G>A	uc021orh.1	+	0	1051	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	GPR61_uc001dxy.2_Missense_Mutation_p.E351K	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	351						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GATCCGGGGGGAGCTCAGCAA	0.552000														8			56		0	0	0.003610	0	0
GALNTL2	117248	broad.mit.edu	37	3	16254124	16254124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:16254124G>A	uc003car.4	+	5	1721	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	GALNTL2_uc003caq.4_Missense_Mutation_p.G149R	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	416	Catalytic subdomain B.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CTCTCGGGTAGGACACATCTA	0.547000														31			18		0	0	0.007413	0	0
ACAN	176	broad.mit.edu	37	15	89381985	89381985	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:89381985C>T	uc010upo.1	+	2	536	c.162C>T	c.(160-162)atC>atT	p.I54I	ACAN_uc002bmx.3_Silent_p.I54I|ACAN_uc010upp.1_Silent_p.I54I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	54					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTATTTCATCGACCCCATGC	0.622000														63			18		0	0	0.004990	0	0
CMYA5	202333	broad.mit.edu	37	5	79034206	79034206	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:79034206G>A	uc003kgc.3	+	1	9690	c.9618G>A	c.(9616-9618)aaG>aaA	p.K3206K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3206						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAAAGAAGGAAGAGGAGA	0.403000														4			4		0	0	0.000248	0	0
ELK1	2002	broad.mit.edu	37	X	47497358	47497358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:47497358G>A	uc004dik.4	-	4	1200	c.878C>T	c.(877-879)aCc>aTc	p.T293I	ELK1_uc010nhv.3_Missense_Mutation_p.T293I|ELK1_uc010nhw.3_Missense_Mutation_p.T183I|ELK1_uc004dil.4_Intron	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	293					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CTGCCCTGCGGTGTCCATAAC	0.692000														5			19		0	0	0.006122	0	0
NR5A2	2494	broad.mit.edu	37	1	200143284	200143284	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200143284G>A	uc001gvb.3	+	7	1778	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	NR5A2_uc001gvc.3_Silent_p.G478G|NR5A2_uc009wzh.3_Silent_p.G484G|NR5A2_uc010pph.2_Silent_p.G452G	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	524					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ACCTGAACGGGGATGTGCCCT	0.448000														22			5		0	0	0.000602	0	0
SYNE1	23345	broad.mit.edu	37	6	152771870	152771871	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:152771870_152771871CC>TT	uc021zhb.1	-	24	3507_3508	c.3284_3285GG>AA	c.(3283-3285)agg>aAA	p.R1095K	SYNE1_uc003qot.4_Missense_Mutation_p.R1102K|SYNE1_uc003qou.4_Missense_Mutation_p.R1095K|SYNE1_uc010kjb.1_Missense_Mutation_p.R1078K|SYNE1_uc003qow.3_Missense_Mutation_p.R390K|SYNE1_uc003qox.1_Missense_Mutation_p.R611K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1095					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGTGTGTCCCTTACTGGGTC	0.505000										HNSCC(10;0.0054)				9			118		0	0	0.004672	0	0
TREML2	79865	broad.mit.edu	37	6	41165918	41165918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:41165918C>T	uc010jxm.1	-	1	484	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	102	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCACCAGTATCGGCCTGAGTC	0.617000														31			29		0	0	0.005443	0	0
ABCC1	4363	broad.mit.edu	37	16	16205301	16205301	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:16205301C>A	uc010bvi.3	+	21	3116	c.2941C>A	c.(2941-2943)Ctt>Att	p.L981I	ABCC1_uc010bvj.3_Missense_Mutation_p.L922I|ABCC1_uc010bvk.3_Missense_Mutation_p.L925I|ABCC1_uc010bvl.3_Missense_Mutation_p.L981I|ABCC1_uc010bvm.3_Missense_Mutation_p.L866I|ABCC1_uc002del.4_Missense_Mutation_p.L875I	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	981	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAGCATCTTCCTTTTCATGTG	0.522000														117			68		1.15098e-32	2.20998e-32	0.003610	1	0
TAGAP	117289	broad.mit.edu	37	6	159463142	159463142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:159463142C>T	uc003qrz.3	-	4	615	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	TAGAP_uc011eft.2_Missense_Mutation_p.G32S|TAGAP_uc003qsa.3_Intron|TAGAP_uc003qsb.3_Missense_Mutation_p.G95S	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	95	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCACTGTCACCGCAGATAATT	0.468000														88			54		0	0	0.003610	0	0
OSBP2	23762	broad.mit.edu	37	22	31266560	31266560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:31266560C>T	uc003aiy.1	+	2	1102	c.998C>T	c.(997-999)tCc>tTc	p.S333F	OSBP2_uc011ala.1_Missense_Mutation_p.S168F|OSBP2_uc010gwc.1_Missense_Mutation_p.S160F|OSBP2_uc003aix.1_Missense_Mutation_p.S333F|OSBP2_uc011alb.1_Missense_Mutation_p.S333F|OSBP2_uc003aiz.1_Missense_Mutation_p.S333F|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.2_Missense_Mutation_p.S75F	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	333					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTCCAGCGCTCCCTGACAGAG	0.577000														33			8		0	0	0.004482	0	0
KCNH4	23415	broad.mit.edu	37	17	40314292	40314292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40314292C>T	uc002hzb.2	-	14	2965	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	878					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAAACCTTTTCCTTCACCTCC	0.562000														55			36		0	0	0.003214	0	0
SCNN1B	6338	broad.mit.edu	37	16	23366789	23366789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:23366789G>A	uc002dln.3	+	3	931	c.755G>A	c.(754-756)gGa>gAa	p.G252E		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	252					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGCCTATTCGGAGCTGAGCCC	0.617000														37			14		0	0	0.001855	0	0
ZMYM3	9203	broad.mit.edu	37	X	70468055	70468055	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:70468055C>T	uc004dzh.2	-	10	2111	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.E644E|ZMYM3_uc004dzj.2_Silent_p.E644E	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	644					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCGGAGTTTCTCATGCAAGA	0.547000														24			13		0	0	0.001368	0	0
C15orf42	90381	broad.mit.edu	37	15	90126082	90126082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:90126082C>T	uc002boe.3	+	1	820	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S	C15orf42_uc021sug.1_Missense_Mutation_p.P274S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	274					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	p.P274Q(1)		NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCATCTTTCTCCGTGGATTTC	0.453000														72			56		0	0	0.003610	0	0
MYLK	4638	broad.mit.edu	37	3	123456263	123456263	+	Missense_Mutation	SNP	G	A	A	rs137982786		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:123456263G>A	uc003ego.3	-	7	998	c.716C>T	c.(715-717)tCg>tTg	p.S239L	MYLK_uc011bjw.2_Missense_Mutation_p.S239L|MYLK_uc003egp.3_Missense_Mutation_p.S239L|MYLK_uc003egq.3_Missense_Mutation_p.S239L|MYLK_uc003egr.3_Missense_Mutation_p.S239L|MYLK_uc003egs.3_Missense_Mutation_p.S63L|MYLK_uc010hrs.1_Missense_Mutation_p.S239L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	239	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCCTTCCCCGACCCGTTCAC	0.572000														47			21		0	0	0.001882	0	0
PDE5A	8654	broad.mit.edu	37	4	120528211	120528211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:120528211C>T	uc003idh.3	-	1	549	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	PDE5A_uc003idf.3_Missense_Mutation_p.E90K|PDE5A_uc003idg.3_Missense_Mutation_p.E80K	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	132					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GGCATCTGTTCCTTCTTTTCT	0.453000														23			12		0	0	0.001368	0	0
TG	7038	broad.mit.edu	37	8	134042185	134042185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:134042185C>T	uc003ytw.3	+	40	7197	c.7156C>T	c.(7156-7158)Cgt>Tgt	p.R2386C	TG_uc010mdw.3_Missense_Mutation_p.R1145C|TG_uc011ljb.2_Missense_Mutation_p.R755C|TG_uc011ljc.2_Missense_Mutation_p.R519C	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2386					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R2386H(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAGCAGACCGTGGCGGGGC	0.647000														49			29		0	0	0.003610	0	0
RFX2	5990	broad.mit.edu	37	19	5997151	5997151	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:5997151A>G	uc002meb.3	-	15	2202	c.1933T>C	c.(1933-1935)Tac>Cac	p.Y645H	RFX2_uc002mec.3_Missense_Mutation_p.Y620H	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACTCGTCGTAGAGCAGGCGG	0.662000														70			13		0	0	0.002450	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329599	107329599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:107329599G>A	uc003vep.3	+	8	1327	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	SLC26A4_uc011kmb.2_5'Flank|SLC26A4_uc011kmc.2_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	368					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTGTCAGTAGGAAAAGTATAT	0.458000									Pendred syndrome					24			7		0	0	0.001984	0	0
UBE3C	9690	broad.mit.edu	37	7	156974994	156974994	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:156974994C>T	uc010lqs.3	+	7	1275	c.963C>T	c.(961-963)ttC>ttT	p.F321F	UBE3C_uc003wnf.2_Silent_p.F278F|UBE3C_uc003wng.2_Silent_p.F321F	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	321					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTTCTATTTCGTTTTAACTG	0.418000														87			35		0	0	0.006230	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8662007	8662007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:8662007C>T	uc002mkj.1	-	7	1178	c.904G>A	c.(904-906)Gag>Aag	p.E302K	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	302	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGGTGATCTCCAGAGTGGGC	0.597000														108			36		0	0	0.002852	0	0
LINC00477	144360	broad.mit.edu	37	12	24736861	24736861	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:24736861C>T	uc001rgb.1	-	0		c.242G>A								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		GAATACATCCCCATAGGAGAT	0.527000														25			15		0	0	0.002450	0	0
BCORL1	63035	broad.mit.edu	37	X	129148755	129148755	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129148755C>T	uc022cdu.1	+	2	2051	c.2007C>T	c.(2005-2007)acC>acT	p.T669T	BCORL1_uc010nrd.1_Silent_p.T571T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	669					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGCGCACAACCCAGGCTGCCG	0.632000														72			14		0	0	0.003163	0	0
TUBG2	27175	broad.mit.edu	37	17	40817554	40817554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40817554C>T	uc010wgr.2	+	6	923	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	TUBG2_uc002iap.3_Missense_Mutation_p.P70S	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	223					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CATCCAGAACCCGTCCTTCTC	0.597000														95			30		0	0	0.007291	0	0
ANK3	288	broad.mit.edu	37	10	61829136	61829136	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:61829136G>A	uc001jky.3	-	36	11841	c.11503C>T	c.(11503-11505)Cta>Tta	p.L3835L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3835					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCCTTGTAGTACCCCTGTC	0.383000														10			7		0	0	0.003080	0	0
IPO13	9670	broad.mit.edu	37	1	44433043	44433043	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:44433043C>T	uc001ckx.3	+	18	3465	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	IPO13_uc001cky.3_Silent_p.F108F	NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	890					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATATCCTGTTCGCCCTGAACA	0.627000														48			45		0	0	0.003610	0	0
OPHN1	4983	broad.mit.edu	37	X	67426472	67426472	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:67426472C>T	uc004dww.4	-	9	1170	c.876G>A	c.(874-876)gaG>gaA	p.E292E	OPHN1_uc011mpg.2_Silent_p.E292E	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	292	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGGTCTCTTTCTCATACTGGC	0.413000														36			18		0	0	0.001216	0	0
PDE4A	5141	broad.mit.edu	37	19	10568682	10568682	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10568682C>T	uc002moj.2	+	7	1113	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	PDE4A_uc021uow.1_Silent_p.I313I|PDE4A_uc002mok.2_Silent_p.I309I|PDE4A_uc002mol.2_Silent_p.I274I|PDE4A_uc002mom.2_Silent_p.I96I|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	335	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TGTCCCAAATCACAGGGTTGA	0.547000														107			34		0	0	0.003755	0	0
SMURF2	64750	broad.mit.edu	37	17	62579628	62579628	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:62579628G>A	uc002jep.1	-	6	908	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	174	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTAGATACTGGATTCTTCCA	0.418000														26			11		0	0	0.001368	0	0
DSCAM	1826	broad.mit.edu	37	21	41559082	41559082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:41559082C>T	uc002yyq.1	-	13	3207	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	919	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTCAATATCGTAGCCTGTG	0.413000														38			24		0	0	0.005443	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411424	121411424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:121411424C>T	uc010hrc.3	-	13	6913	c.6787G>A	c.(6787-6789)Gaa>Aaa	p.E2263K	GOLGB1_uc003eei.4_Missense_Mutation_p.E2258K|GOLGB1_uc003eej.4_Missense_Mutation_p.E2224K|GOLGB1_uc021xcy.1_Missense_Mutation_p.E2183K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2258					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGTCATGTTCAAGCCTGAAA	0.403000														48			18		0	0	0.006122	0	0
ZBTB43	23099	broad.mit.edu	37	9	129594835	129594835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:129594835C>T	uc022bnm.1	+	0	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ZBTB43_uc004bql.3_Missense_Mutation_p.S16F|ZBTB43_uc010mxf.3_Missense_Mutation_p.S16F	NM_014007	NP_054726	O43298	ZBT43_HUMAN	Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGATTTTTCCAGCACCATT	0.433000														45			21		0	0	0.001523	0	0
PREX2	80243	broad.mit.edu	37	8	69033271	69033271	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:69033271G>A	uc003xxv.1	+	29	3738	c.3711G>A	c.(3709-3711)agG>agA	p.R1237R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1237					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R1237R(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACATCAGGAAATTTGTTG	0.403000														38			11		0	0	0.003163	0	0
DIAPH1	1729	broad.mit.edu	37	5	140966731	140966731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140966731C>T	uc003llb.4	-	2	319	c.178G>A	c.(178-180)Gag>Aag	p.E60K	DIAPH1_uc003llc.4_Missense_Mutation_p.E51K|DIAPH1_uc021yep.1_Missense_Mutation_p.E60K|DIAPH1_uc021yeq.1_Missense_Mutation_p.E51K	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	60					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCTTCTCCTTCTTAATT	0.393000														6			3		0	0	0.000248	0	0
PAX8	7849	broad.mit.edu	37	2	113999598	113999598	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:113999598C>T	uc010yxt.2	-	5	754	c.588G>A	c.(586-588)agG>agA	p.R196R	PAX8_uc010yxu.2_Silent_p.R196R|PAX8_uc002tjm.3_Silent_p.R196R|PAX8_uc002tjn.3_Silent_p.R196R|PAX8_uc010fku.1_Silent_p.R196R|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	196					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CATCCATTTTCCTCTTGTCGC	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis							14			5		0	0	0.003080	0	0
LRFN2	57497	broad.mit.edu	37	6	40359725	40359725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:40359725C>T	uc003oph.1	-	2	2792	c.2327G>A	c.(2326-2328)gGg>gAg	p.G776E		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	776						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAAAAGTCCCCCGGGCCCC	0.607000														27			23		0	0	0.001882	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170236	207170236	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:207170236G>A	uc002vbp.2	+	4	1234	c.984G>A	c.(982-984)aaG>aaA	p.K328K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	328							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTATTGCAAAGAACCATGAGG	0.368000														11			10		0	0	0.006214	0	0
MGRN1	23295	broad.mit.edu	37	16	4723500	4723500	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4723500C>T	uc002cxa.3	+	10	933	c.796_splice	c.e10-1	p.P266_splice	MGRN1_uc002cwz.3_Splice_Site_p.P266_splice|MGRN1_uc010uxo.2_Splice_Site_p.P266_splice|MGRN1_uc010uxp.2_Splice_Site_p.P266_splice|MGRN1_uc010btw.3_Splice_Site_p.P267_splice|MGRN1_uc010uxq.2_Splice_Site	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	266					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TCCCGGCAGCCCTCGGACGAC	0.652000														171			69		0	0	0.003610	0	0
ATF6B	1388	broad.mit.edu	37	6	32093908	32093908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:32093908G>A	uc003nzn.3	-	4	497	c.464C>T	c.(463-465)tCt>tTt	p.S155F	ATF6B_uc003nzo.3_Missense_Mutation_p.S152F|ATF6B_uc011dpg.2_Missense_Mutation_p.S89F|ATF6B_uc011dph.2_Missense_Mutation_p.S155F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	155					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GGAATCATCAGAGGTGGGGAT	0.502000														266			101		0	0	0.003610	0	0
OR1N2	138882	broad.mit.edu	37	9	125316096	125316096	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125316096C>T	uc011lyx.2	+	0	648	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGCTGATGATCATCACCATGG	0.502000														21			11		0	0	0.000673	0	0
MYH1	4619	broad.mit.edu	37	17	10408756	10408756	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10408756G>A	uc002gmo.3	-	19	2341	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	749	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACCCCAGGAGCTTCTCTG	0.403000														20			19		0	0	0.006122	0	0
C11orf41	25758	broad.mit.edu	37	11	33564529	33564529	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:33564529C>T	uc021qfs.1	+	0	653	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	C11orf41_uc001mun.1_Silent_p.L177L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	177						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GGTGCCTTCTCTGCATATCAC	0.537000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			89		0	0	0.003610	0	0
FAM45A	404636	broad.mit.edu	37	X	129629187	129629187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129629187G>A	uc010nrh.3	+	0	273	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	19										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CGGGCTGATCGAAAAGGACAC	0.532000														75			35		0	0	0.003755	0	0
LAMA2	3908	broad.mit.edu	37	6	129674449	129674449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:129674449G>A	uc021zfb.1	+	31	4769	c.4664G>A	c.(4663-4665)aGg>aAg	p.R1555K	LAMA2_uc003qbn.3_Missense_Mutation_p.R1555K|LAMA2_uc003qbo.3_Missense_Mutation_p.R1555K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1555	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G1554G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCACGGGAAGGAAGTGTGAC	0.557000														31			21		0	0	0.002780	0	0
CCKAR	886	broad.mit.edu	37	4	26483440	26483440	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:26483440G>A	uc003gse.1	-	4	1260	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGAAGCAGTAGATGATGGGGT	0.642000														51			58		0	0	0.003610	0	0
UNC80	285175	broad.mit.edu	37	2	210658505	210658505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:210658505C>T	uc010zjc.1	+	6	940	c.860C>T	c.(859-861)tCa>tTa	p.S287L	UNC80_uc021vvx.1_Missense_Mutation_p.S287L|UNC80_uc002vdj.1_Missense_Mutation_p.S287L	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	287						integral to membrane		p.S287A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GCCACCATTTCAGGCTGTCAC	0.478000														23			42		0	0	0.006999	0	0
ZNF226	7769	broad.mit.edu	37	19	44681084	44681084	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:44681084A>G	uc002oys.3	+	5	1849	c.1669A>G	c.(1669-1671)Aaa>Gaa	p.K557E	ZNF226_uc002oyp.3_Missense_Mutation_p.K557E|ZNF226_uc002oyq.3_Missense_Mutation_p.K440E|ZNF226_uc002oyr.3_Missense_Mutation_p.K440E|ZNF226_uc002oyt.3_Missense_Mutation_p.K557E	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGTATAGAGAAACCTTTTAA	0.453000														65			23		0	0	0.006320	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516357	138516357	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138516357G>A	uc010nbd.1	-	4	671	c.417C>T	c.(415-417)acC>acT	p.T139T		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	139					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ACCACCTCTCGGTGCCCACTT	0.552000														14			9		0	0	0.006214	0	0
ACAN	176	broad.mit.edu	37	15	89414673	89414673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:89414673C>T	uc010upo.1	+	13	7381	c.7007C>T	c.(7006-7008)cCg>cTg	p.P2336L	ACAN_uc010upp.1_Missense_Mutation_p.P2298L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2336					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGCCACTTCCCGGACCGCGAG	0.627000														37			24		0	0	0.003330	0	0
OR10K2	391107	broad.mit.edu	37	1	158390349	158390349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158390349G>A	uc010pii.2	-	0	308	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAAGAGGAAGGAAAACATTTG	0.483000														9			4		0	0	0.000248	0	0
CNGA3	1261	broad.mit.edu	37	2	99013037	99013037	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:99013037C>T	uc010fij.3	+	7	1557	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	CNGA3_uc002syt.3_Silent_p.I468I|CNGA3_uc002syu.3_Silent_p.I450I			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	468					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGGCTGAGATCGCCATCAACG	0.587000														13			7		0	0	0.001984	0	0
NCSTN	23385	broad.mit.edu	37	1	160326129	160326129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:160326129C>T	uc001fvx.3	+	13	1755	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	NCSTN_uc001fvy.3_Missense_Mutation_p.S524F|NCSTN_uc010pjf.2_Missense_Mutation_p.S406F|NCSTN_uc010pjg.2_Missense_Mutation_p.S286F	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	544					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCTAAGGTCCTACTTGGGT	0.428000														52			36		0	0	0.005524	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:219000488C>T	uc002vgz.2	+	3	1174	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	CXCR2_uc002vha.2_Missense_Mutation_p.R322C|CXCR2_uc002vhb.2_Missense_Mutation_p.R322C|CXCR2_uc021vwp.1_Missense_Mutation_p.R322C	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000														76			33		0	0	0.003271	0	0
FAM73A	374986	broad.mit.edu	37	1	78324727	78324727	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:78324727C>T	uc010ork.2	+	8	1133	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	FAM73A_uc001dhx.3_Silent_p.Y367Y|FAM73A_uc010orl.2_Silent_p.Y329Y|FAM73A_uc001dhy.1_Silent_p.Y156Y	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	367						integral to membrane		p.I366M(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAAAATTTACTCCAGAGTAC	0.378000														21			11		0	0	0.001855	0	0
SDK1	221935	broad.mit.edu	37	7	4026948	4026948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:4026948G>A	uc003smx.3	+	13	2264	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	709	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGCTCTCTGAAAACAGTAA	0.458000														144			38		0	0	0.006230	0	0
CHGB	1114	broad.mit.edu	37	20	5904728	5904728	+	Silent	SNP	A	C	C	rs141361105		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:5904728A>C	uc002wmg.3	+	3	2244	c.1938A>C	c.(1936-1938)acA>acC	p.T646T	CHGB_uc010zqz.2_Silent_p.T329T	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	646						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTGACCAGACAGTCCTGACAG	0.473000														4			4		0	0	0.000248	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922858	48922858	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:48922858C>T	uc002pjc.4	+	8	1966	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	GRIN2D_uc010elx.3_5'UTR|Mir_324_uc021uwu.1_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	626						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCGGTTCAACCTTCACCATTG	0.522000														40			18		0	0	0.001882	0	0
CLCN3	1182	broad.mit.edu	37	4	170613424	170613424	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:170613424T>C	uc003ish.3	+	6	1448	c.889T>C	c.(889-891)Tcc>Ccc	p.S297P	CLCN3_uc003isi.3_Missense_Mutation_p.S297P|CLCN3_uc011cka.2_Missense_Mutation_p.S297P|CLCN3_uc011cjz.2_Missense_Mutation_p.S280P|CLCN3_uc003isj.2_Missense_Mutation_p.S270P	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	297					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAATATCTTTTCCTACCTCTT	0.363000														29			20		0	0	0.002299	0	0
MT2A	4502	broad.mit.edu	37	16	56642584	56642584	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:56642584C>A	uc002ejh.3	+	0	107	c.17C>A	c.(16-18)tCc>tAc	p.S6Y	MT1A_uc002eji.3_Non-coding_Transcript	NM_005953	NP_005944	P02795	MT2_HUMAN	Homo sapiens metallothionein 2A (MT2A), mRNA.	6	Beta.				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding			breast(1)|endometrium(1)|lung(1)	3						CCCAACTGCTCCTGCGCCGCC	0.597000														57			26		3.99451e-17	7.63928e-17	0.001786	1	0
GAD2	2572	broad.mit.edu	37	10	26575279	26575279	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:26575279G>A	uc001isp.2	+	12	1745	c.1242G>A	c.(1240-1242)ttG>ttA	p.L414L	GAD2_uc001isq.2_Silent_p.L414L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	414					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGTAGGGATTGATGCAGAATT	0.358000														2			5		0	0	0.001168	0	0
DALRD3	55152	broad.mit.edu	37	3	49055845	49055845	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49055845G>A	uc003cvk.1	-	0	173	c.153C>T	c.(151-153)ttC>ttT	p.F51F	DALRD3_uc003cvl.1_Silent_p.F51F|DALRD3_uc003cvm.1_Intron|DALRD3_uc010hko.1_5'UTR|DALRD3_uc011bca.1_Silent_p.F51F|NDUFAF3_uc003cvn.3_5'Flank|NDUFAF3_uc003cvp.3_5'Flank	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	51					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCGTCATCGAAGCGCGCCT	0.731000														4			4		0	0	0.001168	0	0
PGBD5	79605	broad.mit.edu	37	1	230492894	230492894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:230492894C>T	uc010pwb.2	-	1	322	c.298G>A	c.(298-300)Gcg>Acg	p.A100T		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	100						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCCAGGAACGCCTTCATCTCC	0.592000														89			21		0	0	0.001523	0	0
ADCY7	113	broad.mit.edu	37	16	50339721	50339721	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:50339721C>T	uc002egd.1	+	12	1981	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	ADCY7_uc002egc.2_Silent_p.T571T	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	571					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACTTCTACACCTTTGGGTCCA	0.667000														50			31		0	0	0.002836	0	0
C5orf54	63920	broad.mit.edu	37	5	159821391	159821391	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:159821391C>T	uc003lye.1	-	1	1571	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	C5orf54_uc003lyf.1_Silent_p.E369E|C5orf54_uc021yhc.1_Silent_p.E369E	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	369										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						gaattttaaactctttatttt	0.348000														45			21		0	0	0.002299	0	0
PLCB4	5332	broad.mit.edu	37	20	9404525	9404525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9404525G>A	uc021wam.1	+	23	2429	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	PLCB4_uc010gbw.1_Missense_Mutation_p.G805E|PLCB4_uc010gbx.3_Missense_Mutation_p.G817E|PLCB4_uc021wal.1_Missense_Mutation_p.G805E|PLCB4_uc002wnh.3_Missense_Mutation_p.G652E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	805					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGAAATGAGGGAAATAAACCA	0.408000														19			7		0	0	0.001984	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697677	17697677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:17697677G>A	uc002rcl.1	-	0	2030	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	RAD51AP2_uc010exn.1_Missense_Mutation_p.S660F	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	669										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATACTGAAGGAATTAATGAG	0.274000														42			19		0	0	0.007413	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546081	18546081	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:18546081G>A	uc002njd.2	-	9	1685	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	ISYNA1_uc002nja.2_Silent_p.I361I|ISYNA1_uc002njb.2_Silent_p.I407I|ISYNA1_uc002njc.2_Silent_p.I339I|ISYNA1_uc010xqh.2_Silent_p.I287I|ISYNA1_uc002nje.2_Silent_p.I435I	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	489					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGCACCTGAGGATGTTCTCGA	0.657000														86			31		0	0	0.002445	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066138	153066138	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153066138C>T	uc021ozs.1	-	0	90	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2A_uc001fbf.3_Intron|SPRR2E_uc001fbh.3_Silent_p.P30P	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	Homo sapiens small proline-rich protein 2E (SPRR2E), mRNA.	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.622000														105			87		0	0	0.003610	0	0
ZNF696	79943	broad.mit.edu	37	8	144378412	144378412	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:144378412C>T	uc003yxy.4	+	2	976	c.567C>T	c.(565-567)gcC>gcT	p.A189A		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCGGCAAGGCCTTCGGCCAGA	0.716000														9			18		0	0	0.004990	0	0
SCYL1	57410	broad.mit.edu	37	11	65306007	65306007	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:65306007C>T	uc001oea.1	+	17	2474	c.2397C>T	c.(2395-2397)ccC>ccT	p.P799P	SCYL1_uc009yqk.3_3'UTR|SCYL1_uc001oeb.1_Silent_p.P782P|SCYL1_uc001oec.1_Missense_Mutation_p.P787L|SCYL1_uc001oee.1_Missense_Mutation_p.P425L	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	799	Interaction with COPB1 (By similarity).				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCAAGGGCCCCATGAAGCTGG	0.657000														10			9		0	0	0.001368	0	0
EDC4	23644	broad.mit.edu	37	16	67914078	67914078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:67914078C>T	uc002eur.3	+	16	2295	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	EDC4_uc010cer.3_Missense_Mutation_p.P305S|EDC4_uc010vkg.1_Missense_Mutation_p.P618S|EDC4_uc002eus.3_Missense_Mutation_p.P416S|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	686					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGGCCTGCTCCCAGCCCCAGC	0.652000														38			10		0	0	0.001855	0	0
RYR1	6261	broad.mit.edu	37	19	38951024	38951024	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38951024C>T	uc002oit.3	+	19	2500	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	RYR1_uc002oiu.3_Silent_p.F790F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	790	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGTGCGGTTCCTCCTTGGTG	0.582000														47			69		0	0	0.003610	0	0
HGF	3082	broad.mit.edu	37	7	81381551	81381551	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:81381551T>C	uc003uhl.3	-	4	675	c.510A>G	c.(508-510)aaA>aaG	p.K170K	HGF_uc003uhm.3_Silent_p.K165K|HGF_uc003uhn.1_Silent_p.K170K|HGF_uc003uho.1_Silent_p.K165K|HGF_uc003uhp.3_Silent_p.K170K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	170	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.G169C(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTGTAGGTCTTTACCCCGAT	0.403000														23			17		0	0	0.001216	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870681	51870681	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:51870681C>T	uc002xwo.3	+	1	1571	c.684C>T	c.(682-684)gtC>gtT	p.V228V	TSHZ2_uc021wex.1_Silent_p.V225V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	228					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACACCCTAGTCGAGCTGACTG	0.547000														41			19		0	0	0.001523	0	0
CPD	1362	broad.mit.edu	37	17	28791734	28791734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:28791734C>T	uc002hfb.2	+	20	4102	c.4045C>T	c.(4045-4047)Cgc>Tgc	p.R1349C	CPD_uc010wbo.2_Missense_Mutation_p.R1102C|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	1349					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.R1349C(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGATGAAATTCGCATGATGTC	0.423000														67			31		0	0	0.002836	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004315	75004315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:75004315C>T	uc004ecj.2	-	0	765	c.572G>A	c.(571-573)gGg>gAg	p.G191E		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	191	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCTCGGTTCCCATTCAAGAG	0.512000														27			11		0	0	0.001368	0	0
JARID2	3720	broad.mit.edu	37	6	15496948	15496948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:15496948C>T	uc003nbj.3	+	6	1736	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	JARID2_uc011diu.1_Missense_Mutation_p.R362W|JARID2_uc011div.2_Missense_Mutation_p.R326W|JARID2_uc011diw.1_Missense_Mutation_p.R460W	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	498					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGAGAGGAATCGGCCGAAGCG	0.652000														49			16		0	0	0.001523	0	0
DNAH7	56171	broad.mit.edu	37	2	196720695	196720695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:196720695G>A	uc002utj.4	-	44	8536	c.8435C>T	c.(8434-8436)cCc>cTc	p.P2812L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2812	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATCTTTTTGGGAGCTACTAT	0.358000														73			40		0	0	0.006230	0	0
WNK3	65267	broad.mit.edu	37	X	54337640	54337640	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:54337640G>A	uc004dtc.2	-	2	1061	c.622C>T	c.(622-624)Cga>Tga	p.R208*	WNK3_uc004dtd.2_Nonsense_Mutation_p.R208*	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	208	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCATAAAATCGAACTATATTG	0.388000														17			9		0	0	0.004482	0	0
C12orf36	283422	broad.mit.edu	37	12	13526340	13526340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:13526340C>T	uc001rbs.2	-	2	467	c.215G>A	c.(214-216)gGa>gAa	p.G72E						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCTGACTCTTCCAGGGAACGA	0.463000														35			19		0	0	0.006122	0	0
DSG2	1829	broad.mit.edu	37	18	29116337	29116337	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:29116337C>T	uc002kwu.4	+	10	1784	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	532					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCAGTTTCTCCGTCATTGACA	0.433000														21			6		0	0	0.003080	0	0
RTN1	6252	broad.mit.edu	37	14	60193852	60193852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60193852G>A	uc001xen.1	-	2	1759	c.1550C>T	c.(1549-1551)gCc>gTc	p.A517V	RTN1_uc001xem.1_Missense_Mutation_p.A97V	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	517					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACCCGGCTCGGCCAGGCCCCG	0.716000														15			10		0	0	0.000673	0	0
MUC16	94025	broad.mit.edu	37	19	9059000	9059000	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9059000C>T	uc002mkp.3	-	2	28650	c.28446G>A	c.(28444-28446)ttG>ttA	p.L9482L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9484	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCAGGTTCCAAACTTGCAT	0.488000														47			8		0	0	0.000673	0	0
IPO4	79711	broad.mit.edu	37	14	24656301	24656302	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:24656301_24656302GG>AA	uc001wmv.1	-	6	1664_1665	c.643_644CC>TT	c.(643-645)ccc>TTc	p.P215F	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.P79F|IPO4_uc001wmy.1_Missense_Mutation_p.P79F|IPO4_uc001wmz.2_Missense_Mutation_p.P215F	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	215					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	p.P215P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTCATCTATGGGGATCAGAGTC	0.554000														225			184		0	0	0.004672	0	0
ITGAX	3687	broad.mit.edu	37	16	31391671	31391671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:31391671G>A	uc002ebt.3	+	26	3212	c.3145G>A	c.(3145-3147)Ggc>Agc	p.G1049S	ITGAX_uc002ebu.1_Missense_Mutation_p.G1049S	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1049					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCCTGAAGGGCAACCTCAG	0.627000														15			9		0	0	0.000673	0	0
POMT2	29954	broad.mit.edu	37	14	77745123	77745123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77745123G>A	uc001xti.2	-	18	2182	c.1981C>T	c.(1981-1983)Ctc>Ttc	p.L661F	POMT2_uc001xth.1_Missense_Mutation_p.L359F	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	661					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TGGAAGTAGAGGACCCGGCCC	0.612000														69			52		0	0	0.003610	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125836898	125836898	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:125836898C>T	uc003eim.1	-	16	2122	c.1932G>A	c.(1930-1932)agG>agA	p.R644R	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.R543R|ALDH1L1_uc003ein.1_5'Flank	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	644	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACCCGATTTTCCTCACATCAG	0.647000														41			7		0	0	0.004482	0	0
TNNC1	7134	broad.mit.edu	37	3	52485483	52485483	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52485483C>T	uc003deb.3	-	4	404	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	126	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CCGTGATGGTCTCGCCTGTAG	0.582000														65			26		0	0	0.007291	0	0
STARD4	134429	broad.mit.edu	37	5	110835772	110835772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:110835772C>T	uc003kph.1	-	5	514	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	STARD4_uc010jbw.1_Missense_Mutation_p.E46K|STARD4_uc010jbx.1_Missense_Mutation_p.E46K|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	144	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CGAACAAATTCTGGTCTCTTT	0.338000														26			10		0	0	0.001855	0	0
CFHR2	3080	broad.mit.edu	37	1	196920005	196920005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:196920005G>A	uc001gtq.1	+	2	354	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	93	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TCCTTTTGTGGAAAATGGTCA	0.323000														23			6		0	0	0.001168	0	0
SYT16	83851	broad.mit.edu	37	14	62462985	62462985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:62462985C>T	uc001xfu.1	+	0	445	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SYT16_uc010tsd.1_Missense_Mutation_p.S83F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	83										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GATGCAAATTCCTTGTTTCTT	0.388000														15			8		0	0	0.004482	0	0
DNTT	1791	broad.mit.edu	37	10	98080482	98080482	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:98080482C>T	uc001kmf.3	+	3	785	c.615C>T	c.(613-615)atC>atT	p.I205I	DNTT_uc001kmg.3_Silent_p.I205I	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	205	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CATTCACAATCATCAGTATGA	0.428000														2			11		0	0	0.001368	0	0
COL15A1	1306	broad.mit.edu	37	9	101748250	101748250	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:101748250C>T	uc004azb.1	+	2	710	c.504C>T	c.(502-504)gtC>gtT	p.V168V		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	168	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCATGATTGTCCAGGGTGAGG	0.602000														86			36		0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179656855	179656855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179656855C>T	uc021vsy.1	-	9	1831	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	TTN_uc021vsz.1_Missense_Mutation_p.E536K|TTN_uc021vta.1_Missense_Mutation_p.E536K|TTN_uc021vtb.1_Missense_Mutation_p.E536K|TTN_uc002unb.2_Missense_Mutation_p.E536K|TTN_uc010frg.1_Missense_Mutation_p.E210K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	536							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q535K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTAGTTTCTTGTTCTTTG	0.284000														15			22		0	0	0.002299	0	0
PTPN4	5775	broad.mit.edu	37	2	120723175	120723175	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:120723175C>G	uc002tmf.1	+	24	3283	c.2512C>G	c.(2512-2514)Cga>Gga	p.R838G	PTPN4_uc010flj.1_Missense_Mutation_p.R551G|PTPN4_uc010yyr.1_Missense_Mutation_p.R471G	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	838	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGTCATGTACGAAACAAGAG	0.438000														49			13		0	0	0.004990	0	0
SEPP1	6414	broad.mit.edu	37	5	42801040	42801040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:42801040C>T	uc011cps.2	-	5	1116	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.E310K|SEPP1_uc011cpu.2_Missense_Mutation_p.E310K|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	310					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CCTGTTTTTTCAAATATCAGA	0.428000														29			15		0	0	0.004007	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359121	102359121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:102359121C>T	uc001vpb.3	+	8	1367	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	ITGBL1_uc010agb.3_Missense_Mutation_p.S334F|ITGBL1_uc001vpc.4_Missense_Mutation_p.S242F	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	383	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACATGTTCCTGTGGTCGC	0.468000														52			25		0	0	0.003330	0	0
FBXL7	23194	broad.mit.edu	37	5	15936637	15936637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:15936637C>T	uc003jfn.1	+	3	1299	c.818C>T	c.(817-819)tCc>tTc	p.S273F		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	273					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAACAGATTTCCATCCGCTAC	0.577000														37			15		0	0	0.003163	0	0
PORCN	64840	broad.mit.edu	37	X	48374289	48374289	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48374289C>T	uc010nie.1	+	11	1193	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	PORCN_uc004djr.1_Silent_p.F340F|PORCN_uc004djs.1_Silent_p.F334F|PORCN_uc011mlx.1_Silent_p.F263F|PORCN_uc004dju.1_Silent_p.F203F|PORCN_uc004djv.1_Silent_p.F345F|PORCN_uc004djw.1_Silent_p.F339F	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	345					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTTCAGTTTCCACCTGGCTG	0.612000														12			14		0	0	0.004007	0	0
DDX17	10521	broad.mit.edu	37	22	38891910	38891910	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:38891910G>A	uc003avy.4	-	5	874	c.771C>T	c.(769-771)gcC>gcT	p.A257A	DDX17_uc003avx.4_Silent_p.A257A|DDX17_uc011anu.2_Silent_p.A170A	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	178	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.A257A(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GTACTTGCTGGGCAAGCTCTC	0.413000														123			29		0	0	0.004878	0	0
OR6B2	389090	broad.mit.edu	37	2	240969784	240969784	+	Silent	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:240969784T>G	uc010zoc.2	-	0	63	c.63A>C	c.(61-63)ccA>ccC	p.P21P	OR6B2_uc002vyr.3_Silent_p.P21P	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		ACTGCAGCCCTGGGGCCGTGG	0.592000														33			41		0	0	0.006999	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899902	151899902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:151899902G>A	uc022chj.1	-	0	899	c.899C>T	c.(898-900)tCc>tTc	p.S300F	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.S300F|MAGEA12_uc022chi.1_Missense_Mutation_p.S300F|MAGEA12_uc004fgc.3_Missense_Mutation_p.S300F	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	300	MAGE.			S -> P (in Ref. 1; AAA19023).						breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGGGTAGGAAATGTGAGG	0.567000														166			60		0	0	0.003610	0	0
HIRA	7290	broad.mit.edu	37	22	19349263	19349263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:19349263G>A	uc002zpf.1	-	15	2187	c.1967C>T	c.(1966-1968)tCt>tTt	p.S656F	HIRA_uc011agx.1_Missense_Mutation_p.S522F|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Missense_Mutation_p.S612F|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	656	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACAGACAGAGACACAGGCAT	0.542000														238			33		0	0	0.003755	0	0
CDX4	1046	broad.mit.edu	37	X	72667221	72667221	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:72667221C>T	uc011mqk.2	+	0	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CCTCCAATTTCGCTGCGGCAC	0.642000														25			11		0	0	0.000673	0	0
ZNF543	125919	broad.mit.edu	37	19	57838006	57838006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57838006C>T	uc002qoi.2	+	2	508	c.151C>T	c.(151-153)Cct>Tct	p.P51S		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACAGGCTGTCCTTTGTTCAA	0.488000														79			27		0	0	0.001512	0	0
DNAJB6	10049	broad.mit.edu	37	7	157159237	157159237	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:157159237T>A	uc003wnk.3	+	3	372	c.217T>A	c.(217-219)Tta>Ata	p.L73I	DNAJB6_uc003wnj.3_Missense_Mutation_p.L73I|DNAJB6_uc003wnl.3_Missense_Mutation_p.L60I|DNAJB6_uc011kvy.2_Missense_Mutation_p.L24I|DNAJB6_uc011kvz.2_Missense_Mutation_p.L73I|DNAJB6_uc010lqt.3_Missense_Mutation_p.L73I	NM_058246	NP_490647	O75190	DNJB6_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA.	73	Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAAAGAAGGATTAAATGGTGG	0.373000														42			41		0	0	0.003610	0	0
KCNB1	3745	broad.mit.edu	37	20	47990833	47990833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:47990833C>T	uc002xur.1	-	1	1430	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	KCNB1_uc002xus.1_Missense_Mutation_p.E422K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	422					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCTTCTGCTCCTTATAGAAC	0.498000														43			45		0	0	0.003214	0	0
OR5H15	403274	broad.mit.edu	37	3	97887585	97887585	+	Silent	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:97887585C>G	uc011bgu.2	+	0	42	c.42C>G	c.(40-42)ctC>ctG	p.L14L		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AGTTTGTTCTCACAGGATTTT	0.393000														6			4		0	0	0.001984	0	0
CD2	914	broad.mit.edu	37	1	117297532	117297532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:117297532G>A	uc001egu.4	+	1	370	c.341G>A	c.(340-342)gGa>gAa	p.G114E	CD2_uc010owz.1_Missense_Mutation_p.G114E|CD2_uc010oxa.1_Missense_Mutation_p.G114E	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	114	Ig-like V-type.|LFA-3 (CD58) binding region 2.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GATACAAAAGGAAAAAATGTG	0.308000														1			15		0	0	0.003163	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522639	41522639	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:41522639C>T	uc002opr.1	+	8	1390	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.S261S	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	461					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCATGGCCAGCCCCGTGGCCC	0.582000														14			12		0	0	0.001855	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654548	46654549	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:46654548_46654549GG>TT	uc003bhh.3	-	0	4671_4672	c.4671_4672CC>AA	c.(4669-4674)tcccaa>tcAAaa	p.Q1558K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1558					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGATCCTTTTGGGAAGGGTGCT	0.455000														294			8		0	0	0.004672	0	0
PARP3	10039	broad.mit.edu	37	3	51982487	51982487	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:51982487C>T	uc003dby.3	+	10	1964	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	PARP3_uc003dbz.3_Silent_p.V538V	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	531	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCTGGAGGTCCACCTCTGAG	0.592000														18			26		0	0	0.006320	0	0
PBX1	5087	broad.mit.edu	37	1	164781388	164781388	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:164781388T>C	uc001gct.3	+	6	1460	c.997_splice	c.e6+2	p.G333_splice	PBX1_uc010pku.2_Splice_Site_p.G333_splice|PBX1_uc001gcs.3_Splice_Site_p.G333_splice|PBX1_uc010pkv.2_Splice_Site_p.G250_splice|PBX1_uc010pkw.1_Splice_Site_p.G223_splice	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	333					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACTCGGCTGGTTAGTTTTTTC	0.438000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									17			20		0	0	0.001523	0	0
GCOM1	145781	broad.mit.edu	37	15	57929947	57929947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:57929947G>A	uc002aei.3	+	8	1119	c.988G>A	c.(988-990)Gag>Aag	p.E330K	GCOM1_uc002aej.3_Missense_Mutation_p.E330K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.E330K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.E330K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	330					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AATGTCTGGGGAGTTAACTGA	0.383000														13			4		0	0	0.000602	0	0
EPG5	57724	broad.mit.edu	37	18	43535083	43535083	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:43535083G>A	uc002lbm.3	-	1	385	c.285C>T	c.(283-285)tcC>tcT	p.S95S	EPG5_uc002lbo.1_Silent_p.S95S	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	95					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TACACGTCAGGGACTCTTCAT	0.512000														28			18		0	0	0.001216	0	0
SLC35A4	113829	broad.mit.edu	37	5	139947427	139947427	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:139947427T>C	uc003lgg.1	+	2	1401	c.673T>C	c.(673-675)Tac>Cac	p.Y225H	SLC35A4_uc003lgh.1_Missense_Mutation_p.Y225H|SLC35A4_uc021yei.1_Missense_Mutation_p.Y225H	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	Homo sapiens solute carrier family 35, member A4 (SLC35A4), mRNA.	225	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTTCCTCTACACTTTTGG	0.572000														92			28		0	0	0.001512	0	0
UPF1	5976	broad.mit.edu	37	19	18960951	18960951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:18960951G>A	uc002nkg.3	+	3	804	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	UPF1_uc002nkf.3_Missense_Mutation_p.G177R	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	177	Sufficient for interaction with RENT2.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGGCCCCTGGGGGAGACAGT	0.557000														88			56		0	0	0.003610	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50463924	50463924	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50463924G>A	uc010ybh.2	-	1	436	c.345C>T	c.(343-345)tcC>tcT	p.S115S	SIGLEC11_uc010ybi.2_Silent_p.S115S	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	115	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGATCACCAAGGAGCAGCTCC	0.577000														37			7		0	0	0.004990	0	0
MYCT1	80177	broad.mit.edu	37	6	153019221	153019221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:153019221G>A	uc003qpc.4	+	0	192	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	62						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCCATGGCCAGAAAACTTTTG	0.318000														10			5		0	0	0.001984	0	0
BARX2	8538	broad.mit.edu	37	11	129321073	129321073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:129321073C>T	uc001qfc.4	+	3	666	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	206										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACCCAAAGGTCGCCCCAAGAA	0.483000														25			11		0	0	0.000673	0	0
OR2G3	81469	broad.mit.edu	37	1	247769009	247769009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:247769009G>A	uc010pyz.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACCCTTGTGGGAAACTTCACC	0.448000														38			47		0	0	0.003610	0	0
MDN1	23195	broad.mit.edu	37	6	90432827	90432827	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:90432827C>T	uc003pnn.1	-	39	5930	c.5814G>A	c.(5812-5814)ggG>ggA	p.G1938G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1938					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCTTTTTGCCCCCATTTCT	0.483000														2			19		0	0	0.001523	0	0
PLEC	5339	broad.mit.edu	37	8	144997972	144997972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:144997972G>A	uc003zaf.1	-	30	6706	c.6536C>T	c.(6535-6537)gCc>gTc	p.A2179V	PLEC_uc003zab.1_Missense_Mutation_p.A2042V|PLEC_uc003zac.1_Missense_Mutation_p.A2046V|PLEC_uc003zad.2_Missense_Mutation_p.A2042V|PLEC_uc003zae.1_Missense_Mutation_p.A2010V|PLEC_uc003zag.1_Missense_Mutation_p.A2020V|PLEC_uc003zah.2_Missense_Mutation_p.A2028V|PLEC_uc003zaj.2_Missense_Mutation_p.A2069V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2179	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCTGGGCGGCCTCCTGGGC	0.697000														16			5		0	0	0.001168	0	0
KCNH7	90134	broad.mit.edu	37	2	163374419	163374419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:163374419G>A	uc002uch.2	-	3	942	c.713C>T	c.(712-714)tCc>tTc	p.S238F	KCNH7_uc002uci.3_Missense_Mutation_p.S238F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTGGGAGAGGAATGGTCAAG	0.488000														5			4		0	0	0.000602	0	0
ATRX	546	broad.mit.edu	37	X	76845343	76845343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:76845343C>T	uc004ecp.4	-	26	6410	c.6178G>A	c.(6178-6180)Gag>Aag	p.E2060K	ATRX_uc004ecq.4_Missense_Mutation_p.E2022K|ATRX_uc004eco.4_Missense_Mutation_p.E1845K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2060	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTGTCTTCTCCCTACTAGCT	0.313000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							12			9		0	0	0.000673	0	0
NRP2	8828	broad.mit.edu	37	2	206605371	206605371	+	Silent	SNP	C	T	T	rs142043280	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:206605371C>T	uc002vaw.3	+	7	2066	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	NRP2_uc002vat.3_Silent_p.F425F|NRP2_uc002vau.3_Silent_p.F425F|NRP2_uc002vav.3_Silent_p.F425F|NRP2_uc002vax.3_Silent_p.F425F|NRP2_uc002vay.3_Silent_p.F425F|NRP2_uc010fud.3_Silent_p.F425F	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	425	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGAGCTCTTCGGCTGCCGGG	0.582000														26			32		0	0	0.006999	0	0
FOXL1	2300	broad.mit.edu	37	16	86613236	86613236	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:86613236A>T	uc002fjr.3	+	0	1122	c.907A>T	c.(907-909)Agc>Tgc	p.S303C		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	303					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGCCTCCTCCAGCCTCCGTCC	0.662000														11			19		0	0	0.002299	0	0
LMOD2	442721	broad.mit.edu	37	7	123302465	123302465	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:123302465C>T	uc003vky.2	+	1	982	c.825C>T	c.(823-825)gtC>gtT	p.V275V		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	275						cytoskeleton	actin binding|tropomyosin binding										ACGTAAACGTCGAGTCCAACT	0.537000														11			11		0	0	0.000673	0	0
COX4NB	10328	broad.mit.edu	37	16	85813389	85813389	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:85813389G>A	uc002fjd.3	-	4	805	c.558C>T	c.(556-558)ttC>ttT	p.F186F	COX4NB_uc010vol.2_3'UTR	NM_006067	NP_006058	O43402	CX4NB_HUMAN	Homo sapiens COX4 neighbor (COX4NB), transcript variant 1, mRNA.	186						mitochondrion|nucleus				large_intestine(1)|upper_aerodigestive_tract(1)	2						GGTGGTTATCGAAATCCACGA	0.547000														34			60		0	0	0.003610	0	0
MGAT1	4245	broad.mit.edu	37	5	180219449	180219450	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:180219449_180219450CC>TT	uc003mmg.4	-	1	1017_1018	c.522_523GG>AA	c.(520-525)ccggac>ccAAac	p.D175N	MGAT1_uc010jlf.3_Missense_Mutation_p.D175N|MGAT1_uc010jlg.3_Missense_Mutation_p.D175N|MGAT1_uc003mmh.4_Missense_Mutation_p.D175N|MGAT1_uc010jlh.3_Missense_Mutation_p.D175N|MGAT1_uc003mmi.4_Missense_Mutation_p.D175N|MGAT1_uc021yjn.1_Missense_Mutation_p.D175N	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA.	175					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCGGTGGTCCGGCGGCACCG	0.698000														96			38		0	0	0.004672	0	0
OR5L1	219437	broad.mit.edu	37	11	55579581	55579581	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55579581C>T	uc001nhw.1	+	0	639	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I213I(2)|p.M212I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCATCATGATCATCCTCACCT	0.502000														29			44		0	0	0.002852	0	0
B3GALTL	145173	broad.mit.edu	37	13	31848690	31848690	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:31848690C>T	uc010aaz.3	+	8	815	c.705C>T	c.(703-705)acC>acT	p.T235T	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	235					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTCCCCTGACCCCAGTGCCTG	0.473000														13			18		0	0	0.006122	0	0
LSM11	134353	broad.mit.edu	37	5	157181871	157181871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:157181871C>T	uc003lxe.1	+	3	686	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	LSM11_uc003lxf.1_5'Flank	NM_173491	NP_775762	P83369	LSM11_HUMAN	Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA.	228					S phase of mitotic cell cycle|histone mRNA 3'-end processing|termination of RNA polymerase II transcription	U7 snRNP|histone pre-mRNA 3'end processing complex|nucleoplasm	U7 snRNA binding|protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTATTTGATCGGCTGAAACT	0.363000														19			33		0	0	0.002445	0	0
TJP3	27134	broad.mit.edu	37	19	3728613	3728613	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3728613G>A	uc010xhv.2	+	1	117	c.117G>A	c.(115-117)cgG>cgA	p.R39R	TJP3_uc010xhs.2_Silent_p.R20R|TJP3_uc010xht.2_5'UTR|TJP3_uc010xhu.2_Silent_p.R29R|TJP3_uc010xhw.2_Silent_p.R39R	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	20	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCCGCCGGGGCTTTGGCA	0.627000														48			26		0	0	0.004656	0	0
LRRC2	79442	broad.mit.edu	37	3	46568951	46568951	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:46568951G>A	uc010hji.3	-	6	1287	c.894C>T	c.(892-894)ctC>ctT	p.L298L	LRRC2_uc003cpu.4_Silent_p.L298L	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	298										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GGGCAGTTGGGAGCTCCACCA	0.478000														13			10		0	0	0.006214	0	0
KRT37	8688	broad.mit.edu	37	17	39580697	39580697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39580697G>A	uc002hwp.1	-	0	126	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	27	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACATCGATAGGAGAGACAAAG	0.587000														90			39		0	0	0.007835	0	0
ZAN	7455	broad.mit.edu	37	7	100348418	100348418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100348418G>A	uc003uwj.3	+	11	1585	c.1420G>A	c.(1420-1422)Ggg>Agg	p.G474R	ZAN_uc003uwk.3_Missense_Mutation_p.G474R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	474	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAGTCCTGCGGGGAGTCCCCC	0.617000														12			10		0	0	0.006214	0	0
TSPAN13	27075	broad.mit.edu	37	7	16818694	16818694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:16818694G>A	uc003stq.3	+	4	735	c.493G>A	c.(493-495)Gtt>Att	p.V165I		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	165						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TGCTGGAGAGGTTTTGAGATT	0.393000														71			26		0	0	0.001786	0	0
PJA1	64219	broad.mit.edu	37	X	68382130	68382130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:68382130C>T	uc022byl.1	-	0	952	c.952G>A	c.(952-954)Gag>Aag	p.E318K	PJA1_uc004dxg.3_Missense_Mutation_p.E130K|PJA1_uc004dxh.3_Missense_Mutation_p.E318K|PJA1_uc004dxi.3_Missense_Mutation_p.E263K|PJA1_uc011mpi.2_Missense_Mutation_p.E36K	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	318							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TACTTTGGCTCGGGATAGCCA	0.567000														21			31		0	0	0.007291	0	0
LOC284009	284009	broad.mit.edu	37	17	2310391	2310391	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:2310391C>T	uc002fus.3	-	2	460	c.381G>A	c.(379-381)aaG>aaA	p.K127K						Homo sapiens uncharacterized LOC284009 (LOC284009), non-coding RNA.																		CCTCTGAGCTCTTCTGAGAAA	0.547000														22			29		0	0	0.001786	0	0
SIGLEC15	284266	broad.mit.edu	37	18	43422083	43422084	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:43422083_43422084GG>AA	uc002lbl.1	+	5	1067_1068	c.918_919GG>AA	c.(916-921)caggag>caAAag	p.E307K	SIGLEC15_uc010xcp.1_Non-coding_Transcript	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 15 (SIGLEC15), mRNA.	307						integral to membrane		p.E307Q(2)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CCCAGGCCCAGGAGTCCAATTA	0.540000														69			19		0	0	0.004672	0	0
CARM1	10498	broad.mit.edu	37	19	11031382	11031382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11031382C>T	uc002mpz.3	+	11	1508	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_Missense_Mutation_p.S244F	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	461					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CAGACCGGCTCCAAGTCCAGT	0.642000														98			16		0	0	0.007413	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351548	89351548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:89351548G>A	uc002fmx.1	-	8	1863	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	ANKRD11_uc002fmy.1_Missense_Mutation_p.R468C|ANKRD11_uc002fnc.1_Missense_Mutation_p.R468C|ANKRD11_uc002fnb.1_Missense_Mutation_p.R425C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	468						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTCCGAAGCGAACCTCTCTG	0.517000														25			30		0	0	0.001512	0	0
BEX5	340542	broad.mit.edu	37	X	101409140	101409140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:101409140C>T	uc022cat.1	-	0	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E	BEX5_uc010nnz.3_Missense_Mutation_p.G33E|BEX5_uc004eir.3_Missense_Mutation_p.G33E	NM_001159560	NP_001153032	Q5H9J7	BEX5_HUMAN	Homo sapiens brain expressed, X-linked 5 (BEX5), transcript variant 2, mRNA.	33						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTTAACATTTCCTCCAGGCTC	0.498000														42			66		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179643720	179643720	+	Silent	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179643720A>T	uc021vsy.1	-	23	4314	c.4089T>A	c.(4087-4089)acT>acA	p.T1363T	TTN_uc021vsz.1_Silent_p.T1317T|TTN_uc021vta.1_Silent_p.T1317T|TTN_uc021vtb.1_Silent_p.T1317T|TTN_uc002unb.2_Silent_p.T1363T|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1363	Ig-like 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCAAATGCAGTGTAGATTC	0.438000														11			4		0	0	0.000602	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203807111	203807111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:203807111C>T	uc001hac.3	+	12	1508	c.892C>T	c.(892-894)Cca>Tca	p.P298S	ZC3H11A_uc001had.3_Missense_Mutation_p.P298S|ZC3H11A_uc001hae.3_Missense_Mutation_p.P298S|ZC3H11A_uc001haf.3_Missense_Mutation_p.P298S|ZC3H11A_uc010pqm.2_Missense_Mutation_p.P244S|ZC3H11A_uc001hag.1_Missense_Mutation_p.P298S	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	298							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGTGATCCTCCATTAAAGCG	0.398000														57			34		0	0	0.006999	0	0
DNAH3	55567	broad.mit.edu	37	16	20974681	20974681	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20974681G>A	uc010vbe.2	-	52	10525	c.10525C>T	c.(10525-10527)Cag>Tag	p.Q3509*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.Q944*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3509	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGGATCCCTGGAGATCGAAC	0.507000														36			13		0	0	0.002450	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	35137	35137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrGL000209.1:35137C>T	uc002qts.2	+	5	835	c.806C>T	c.(805-807)tCc>tTc	p.S269F	KIR2DL2_uc002qtt.2_Intron	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	269					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CGCTGGTGCTCCAACAAAAAA	0.527000														32			14		0	0	0.004656	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034566	52034566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:52034566C>T	uc002pwy.3	-	1	483	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	SIGLEC6_uc002pwz.3_Missense_Mutation_p.R92Q|SIGLEC6_uc010ydb.2_Missense_Mutation_p.R56Q|SIGLEC6_uc010ydc.2_Missense_Mutation_p.R92Q|SIGLEC6_uc002pxa.3_Missense_Mutation_p.R92Q|SIGLEC6_uc010eoz.2_Missense_Mutation_p.R92Q|SIGLEC6_uc010epa.2_Missense_Mutation_p.R81Q|SIGLEC6_uc010epb.2_Missense_Mutation_p.R45Q	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	92	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GAGGTGGAATCGGCCCCGGGT	0.567000														44			54		0	0	0.003610	0	0
DOCK10	55619	broad.mit.edu	37	2	225637990	225637990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:225637990C>T	uc010fwz.1	-	52	6327	c.6088G>A	c.(6088-6090)Gaa>Aaa	p.E2030K	DOCK10_uc002vob.2_Missense_Mutation_p.E2024K|DOCK10_uc002voa.2_Missense_Mutation_p.E686K	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	2030	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATTGCCACTTCAATTGGATTC	0.438000														29			7		0	0	0.001984	0	0
TRPC6	7225	broad.mit.edu	37	11	101323741	101323741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:101323741C>T	uc001pgk.4	-	12	3166	c.2741G>A	c.(2740-2742)aGa>aAa	p.R914K	TRPC6_uc009ywy.3_Missense_Mutation_p.R798K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	914					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCAAGTTCTCTAATAAGTTC	0.368000														14			5		0	0	0.000602	0	0
MST1P9	11223	broad.mit.edu	37	1	17085046	17085046	+	Missense_Mutation	SNP	C	T	T	rs142342031	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17085046C>T	uc010ock.2	-	10	1429	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.D51N					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCCAGCCGATCCACCCTCTTG	0.607000														50			8		0	0	0.001855	0	0
FGF17	8822	broad.mit.edu	37	8	21905469	21905469	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:21905469C>T	uc003xai.3	+	2	1730	c.429C>T	c.(427-429)ccC>ccT	p.P143P	FGF17_uc003xag.3_Silent_p.P120P|FGF17_uc003xah.3_Silent_p.P109P	NM_003867	NP_003858	O60258	FGF17_HUMAN	Homo sapiens fibroblast growth factor 17 (FGF17), mRNA.	120					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TCCCGCAGCCCAGCGGGAAGA	0.592000														41			6		0	0	0.003080	0	0
C15orf59	388135	broad.mit.edu	37	15	74032633	74032633	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74032633G>A	uc002avy.3	-	1	852	c.507C>T	c.(505-507)ccC>ccT	p.P169P		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	169										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTTCACCGTGGGGCCAGCAC	0.637000														59			54		0	0	0.003610	0	0
PIWIL3	440822	broad.mit.edu	37	22	25144919	25144919	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:25144919C>T	uc003abd.1	-	11	1821	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PIWIL3_uc011ajx.1_Silent_p.P359P|PIWIL3_uc010gut.1_Silent_p.P468P|PIWIL3_uc011ajy.1_Silent_p.P359P	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	468					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAACTCTTCCCGGGACGGACA	0.358000														41			12		0	0	0.001368	0	0
STARD3	10948	broad.mit.edu	37	17	37818594	37818594	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:37818594C>T	uc002hsd.3	+	13	1433	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	STARD3_uc010wei.2_Silent_p.L410L|STARD3_uc002hse.3_Silent_p.L392L|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_Silent_p.L276L	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	410	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATACAGATCTCAAGGTGGGGT	0.582000														20			11		0	0	0.001368	0	0
KCNB2	9312	broad.mit.edu	37	8	73848969	73848969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:73848969G>A	uc003xzb.3	+	2	1967	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	460					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)			GCCTTCGCTCGAAGTATGGAA	0.512000														77			24		0	0	0.003330	0	0
JUP	3728	broad.mit.edu	37	17	39927994	39927994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39927994C>T	uc002hxq.2	-	1	390	c.113G>A	c.(112-114)aGc>aAc	p.S38N	JUP_uc010wfs.2_Missense_Mutation_p.S38N|JUP_uc002hxr.2_Missense_Mutation_p.S38N|JUP_uc002hxs.2_Missense_Mutation_p.S38N	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	38					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCCTTGCTGCTGACGGAGGG	0.612000														45			15		0	0	0.004007	0	0
PLCE1	51196	broad.mit.edu	37	10	96058361	96058361	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:96058361A>G	uc001kjk.3	+	23	6027	c.5393A>G	c.(5392-5394)aAc>aGc	p.N1798S	PLCE1_uc010qnx.2_Missense_Mutation_p.N1782S|PLCE1_uc001kjm.3_Missense_Mutation_p.N1490S|PLCE1_uc001kjp.3_Missense_Mutation_p.N156S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1798	PI-PLC Y-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GACTCTTCCAACCCGAACCCC	0.567000														2			26		0	0	0.005443	0	0
GPR17	2840	broad.mit.edu	37	2	128408356	128408356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:128408356C>T	uc010yzn.2	+	3	742	c.131C>T	c.(130-132)tCc>tTc	p.S44F	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Missense_Mutation_p.S44F|GPR17_uc010yzo.2_Missense_Mutation_p.S16F|GPR17_uc002tpd.3_Missense_Mutation_p.S16F	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	44						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		accaacttctccctggccacg	0.532000											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		108			34		0	0	0.004289	0	0
SDK1	221935	broad.mit.edu	37	7	4116663	4116663	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:4116663A>G	uc003smx.3	+	20	3183	c.3044A>G	c.(3043-3045)aAc>aGc	p.N1015S	SDK1_uc010kso.3_Missense_Mutation_p.N291S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1015	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACGGCAGGAACGACTCTCGT	0.557000														37			13		0	0	0.003163	0	0
EXOC3	11336	broad.mit.edu	37	5	464438	464438	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:464438C>T	uc003jba.3	+	9	1815	c.1687C>T	c.(1687-1689)Cta>Tta	p.L563L		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	574					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAAGAAGTGGCTATTAGGGTC	0.423000														64			27		0	0	0.006320	0	0
LRFN5	145581	broad.mit.edu	37	14	42356795	42356795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:42356795C>T	uc001wvm.3	+	2	2165	c.967C>T	c.(967-969)Cct>Tct	p.P323S	LRFN5_uc010ana.3_Missense_Mutation_p.P323S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	323	Ig-like.					integral to membrane		p.P323R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGGATTTCTCCTGAAGGGAA	0.453000										HNSCC(30;0.082)				44			53		0	0	0.003610	0	0
IDI2	91734	broad.mit.edu	37	10	1065637	1065637	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:1065637C>T	uc001ifv.1	-	4	569	c.504G>A	c.(502-504)acG>acA	p.T168T	IDI2-AS1_uc010qaf.1_5'Flank|IDI2-AS1_uc001ifx.3_5'Flank|IDI2-AS1_uc001ifw.3_5'Flank|IDI2-AS1_uc001ify.3_5'Flank	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	168	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GGATGCTTTTCGTTTCACTGG	0.522000														28			23		0	0	0.004656	0	0
KSR1	8844	broad.mit.edu	37	17	25934966	25934966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:25934966C>T	uc010crg.3	+	15	2118	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	KSR1_uc002gzm.3_Missense_Mutation_p.S338L|KSR1_uc002gzn.3_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	694					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)		ACGTTGCACTCGTTTGTGAGG	0.627000														7			5		0	0	0.001168	0	0
MLL2	8085	broad.mit.edu	37	12	49445252	49445252	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:49445252G>A	uc001rta.4	-	9	2214	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	738	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.G737G(1)|p.P738P(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCGGCCCCTCGGACCGGGGGC	0.697000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				49			29		0	0	0.007291	0	0
TLX1	3195	broad.mit.edu	37	10	102896665	102896665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:102896665G>A	uc001ksw.3	+	2	1226	c.988G>A	c.(988-990)Gag>Aag	p.E330K	TLX1_uc021pxd.1_3'UTR	NM_005521	NP_005512	P31314	TLX1_HUMAN	Homo sapiens T-cell leukemia homeobox 1 (TLX1), transcript variant 1, mRNA.	330						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTCGGCCTGCGAGTGAGCCTG	0.647000			T	"""TRB@, TRD@"""	T-ALL									18			13		0	0	0.001368	0	0
WNK3	65267	broad.mit.edu	37	X	54360224	54360224	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:54360224A>G	uc004dtc.2	-	2	321	c.-118_splice	c.e2-1		WNK3_uc004dtd.2_Splice_Site	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.						intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCCATAGCAACCTGAAGGGG	0.343000														0			2		0	0	0.004672	0	0
MUC6	4588	broad.mit.edu	37	11	1017651	1017651	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1017651T>C	uc001lsw.2	-	30	5201	c.5150A>G	c.(5149-5151)aAc>aGc	p.N1717S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1717	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGGTGGGGTTGGGGGTGAT	0.512000														803			29		0	0	0.007291	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904963	73904963	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:73904963G>A	uc011dyh.2	+	14	3029	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E	KCNQ5_uc011dyi.2_Silent_p.E885E|KCNQ5_uc010kat.3_Silent_p.E866E|KCNQ5_uc003pgk.3_Silent_p.E875E|KCNQ5_uc011dyj.2_Silent_p.E765E|KCNQ5_uc011dyk.2_Silent_p.E625E	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	875					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTGATGAAGAGGTGGGTCCCG	0.493000														28			27		0	0	0.001786	0	0
MBD5	55777	broad.mit.edu	37	2	149216377	149216377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:149216377C>T	uc002twm.4	+	5	1047	c.50C>T	c.(49-51)cCa>cTa	p.P17L	MBD5_uc010zbs.2_Non-coding_Transcript	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	17	MBD.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGAGGTCTTCCAGCTATACAA	0.448000														15			4		0	0	0.001168	0	0
BMPER	168667	broad.mit.edu	37	7	34125405	34125405	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:34125405A>G	uc011kap.2	+	13	1820	c.1446A>G	c.(1444-1446)gaA>gaG	p.E482E		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	482	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTTTGTAGAAGTCATGGCTG	0.433000														38			11		0	0	0.001368	0	0
TAF6L	10629	broad.mit.edu	37	11	62554116	62554116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:62554116C>T	uc001nvc.3	+	10	1418	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	TMEM179B_uc001nvd.4_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	406					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CAAGAGTCGTCCTCCGGGGGC	0.711000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			19		0	0	0.002299	0	0
SLC15A1	6564	broad.mit.edu	37	13	99337101	99337101	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:99337101C>T	uc001vno.3	-	22	2081	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	668					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AAGTATAGAACCGAGCCATGA	0.433000														11			6		0	0	0.001168	0	0
PLCH1	23007	broad.mit.edu	37	3	155198957	155198957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:155198957G>A	uc021xge.1	-	22	5159	c.4882C>T	c.(4882-4884)Cgc>Tgc	p.R1628C	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.R1590C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1628					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGAGTGGCGATTCACTGCA	0.582000														41			19		0	0	0.006122	0	0
SEC24D	9871	broad.mit.edu	37	4	119652550	119652550	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:119652550C>T	uc003ici.4	-	20	3061	c.2789G>A	c.(2788-2790)tGg>tAg	p.W930*	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Nonsense_Mutation_p.W931*|SEC24D_uc003ick.2_Nonsense_Mutation_p.W92*	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	930					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TACTCCCAACCACAGGAACAT	0.418000														5			3		0	0	0.004672	0	0
C20orf4	25980	broad.mit.edu	37	20	34843623	34843623	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:34843623G>T	uc002xfe.1	+	3	1417	c.1111G>T	c.(1111-1113)Gcc>Tcc	p.A371S	C20orf4_uc002xfc.2_Missense_Mutation_p.A371S	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	Homo sapiens chromosome 20 open reading frame 4 (C20orf4), mRNA.	371										central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|skin(1)	14	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				TGAGGACTGTGCCCCGGTGGT	0.617000														54			35		2.59497e-14	4.95199e-14	0.007835	1	0
PLCB4	5332	broad.mit.edu	37	20	9319589	9319589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9319589G>A	uc021wam.1	+	3	289	c.274G>A	c.(274-276)Gat>Aat	p.D92N	PLCB4_uc010gbw.1_Missense_Mutation_p.D92N|PLCB4_uc010gbx.3_Missense_Mutation_p.D92N|PLCB4_uc021wal.1_Missense_Mutation_p.D92N	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	92					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATCAGAAAATGATCTGGAAGG	0.403000														4			8		0	0	0.003080	0	0
NXPH1	30010	broad.mit.edu	37	7	8790859	8790859	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:8790859G>A	uc003srv.3	+	2	1187	c.276G>A	c.(274-276)agG>agA	p.R92R	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	92	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACTGGCTGAGGAACTCCACAG	0.478000														21			14		0	0	0.001855	0	0
ANLN	54443	broad.mit.edu	37	7	36483366	36483366	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:36483366C>T	uc003tff.3	+	21	3177	c.2973C>T	c.(2971-2973)acC>acT	p.T991T	ANLN_uc011kaz.2_Silent_p.T903T|ANLN_uc003tfg.3_Silent_p.T954T|ANLN_uc010kxe.3_Silent_p.T953T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	991	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTTCCAGACCATATTTGAAG	0.373000														11			11		0	0	0.001368	0	0
DNAH9	1770	broad.mit.edu	37	17	11671833	11671833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11671833C>T	uc002gne.3	+	36	7302	c.7234C>T	c.(7234-7236)Cct>Tct	p.P2412S	DNAH9_uc010coo.3_Missense_Mutation_p.P1706S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2412					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)		AGTCAAGTTTCCTTCCCAAGG	0.498000														69			40		0	0	0.001951	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889893	89889893	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:89889893G>A	uc009wcy.1	+	4		c.634G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		ATGAGCAGATGATGGAACAGA	0.468000														175			107		0	0	0.003610	0	0
NDST3	9348	broad.mit.edu	37	4	118975704	118975704	+	Silent	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:118975704T>G	uc003ibx.3	+	1	1042	c.639T>G	c.(637-639)ggT>ggG	p.G213G	NDST3_uc011cgf.1_Silent_p.G213G|NDST3_uc003ibw.3_Silent_p.G213G	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	213	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTGAAAAAGGTTCTTTACCTG	0.363000														11			4		0	0	0.000248	0	0
OR10K2	391107	broad.mit.edu	37	1	158390504	158390504	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158390504C>T	uc010pii.2	-	0	153	c.153G>A	c.(151-153)ctG>ctA	p.L51L		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGGCCCTGTCCAGGACAATGG	0.507000														6			6		0	0	0.003080	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44174393	44174393	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:44174393G>A	uc010zxc.2	-	1	177	c.108C>T	c.(106-108)atC>atT	p.I36I	SPINLW1-WFDC6_uc002xou.3_Silent_p.I36I|SPINLW1-WFDC6_uc002xov.2_Silent_p.I36I	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	36						extracellular region	serine-type endopeptidase inhibitor activity										ATTCTTCTCTGATTTTGGGAC	0.453000														18			11		0	0	0.000673	0	0
HTR2A	3356	broad.mit.edu	37	13	47469874	47469874	+	Silent	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:47469874G>T	uc010acr.3	-	1	857	c.168C>A	c.(166-168)tcC>tcA	p.S56S	HTR2A_uc001vbr.3_Intron	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	56					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.S56S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACCCTTCACAGGAAAGGTTGG	0.443000														80			23		5.35356e-11	1.01868e-10	0.002780	1	0
ATP2B3	492	broad.mit.edu	37	X	152830489	152830489	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:152830489C>T	uc004fht.1	+	18	3396	c.3270C>T	c.(3268-3270)atC>atT	p.I1090I	ATP2B3_uc004fhs.1_Silent_p.I1090I|ATP2B3_uc010nuf.1_Silent_p.I113I|ATP2B3_uc004fhu.1_Silent_p.I13I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1090					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAGATCGACCATGCCG	0.677000														5			10		0	0	0.000978	0	0
LY6G5B	58496	broad.mit.edu	37	6	31639822	31639822	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31639822C>T	uc003nvt.1	+	2	369	c.369C>T	c.(367-369)ccC>ccT	p.P123P		NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5B (LY6G5B), mRNA.	123						extracellular region				lung(4)	4						ATGACAGGCCCCTGGCCCTGC	0.597000														247			85		0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8517901	8517901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:8517901G>A	uc003zkk.3	-	20	2233	c.1490C>T	c.(1489-1491)tCa>tTa	p.S497L	PTPRD_uc003zkp.3_Missense_Mutation_p.S497L|PTPRD_uc003zkq.3_Missense_Mutation_p.S497L|PTPRD_uc003zkr.3_Missense_Mutation_p.S491L|PTPRD_uc003zks.3_Missense_Mutation_p.S487L|PTPRD_uc022bdj.1_Missense_Mutation_p.S494L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	497	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T496T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCTCCAATTGAGGTAAAAGC	0.458000										TSP Lung(15;0.13)				8			6		0	0	0.001984	0	0
F10	2159	broad.mit.edu	37	13	113795256	113795256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113795256G>A	uc001vsx.3	+	4	451	c.394G>A	c.(394-396)Gac>Aac	p.D132N	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.D132N	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	132	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCAGCCTGGACAACGGGGA	0.622000														43			59		0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121211733	121211733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:121211733G>A	uc003yox.3	+	7	1070	c.805G>A	c.(805-807)Gga>Aga	p.G269R	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_Intron	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	269	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCACAGATGGAAAATCCCA	0.378000														40			19		0	0	0.007413	0	0
LOC645166	645166	broad.mit.edu	37	1	148932909	148932910	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:148932909_148932910CC>TT	uc010pbc.1	+	1		c.224_225CC>TT			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		GGCCAAGACTCCGTCCTGCAAG	0.609000														152			7		0	0	0.004672	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958302	57958302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57958302C>T	uc010rka.2	+	0	397	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CGACTGCTACCTTCTGGCCAT	0.592000														53			31		0	0	0.002096	0	0
CACNA1H	8912	broad.mit.edu	37	16	1268001	1268002	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1268001_1268002CC>TT	uc002cks.3	+	31	5654_5655	c.5406_5407CC>TT	c.(5404-5409)ttccgc>ttTTgc	p.R1803C	CACNA1H_uc002ckt.3_Missense_Mutation_p.R1797C|CACNA1H_uc002cku.3_Missense_Mutation_p.R509C|CACNA1H_uc010brj.3_Missense_Mutation_p.R514C|CACNA1H_uc002ckv.3_Missense_Mutation_p.R503C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1803					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCACGCTGTTCCGCGTGTCCAC	0.653000														8			6		0	0	0.004672	0	0
PSME4	23198	broad.mit.edu	37	2	54128511	54128511	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:54128511A>C	uc002rxp.2	-	27	3317	c.3261T>G	c.(3259-3261)taT>taG	p.Y1087*	PSME4_uc010yop.1_Nonsense_Mutation_p.Y973*|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Nonsense_Mutation_p.Y462*|PSME4_uc010fbv.1_Nonsense_Mutation_p.Y231*|PSME4_uc021vho.1_Nonsense_Mutation_p.Y1072*	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1087					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAATTGTTTCATACTGCCTAT	0.378000														25			9		0	0	0.004482	0	0
BSN	8927	broad.mit.edu	37	3	49694789	49694789	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49694789G>A	uc003cxe.4	+	4	7914	c.7800G>A	c.(7798-7800)cgG>cgA	p.R2600R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2600	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTTGAGTCGGCGACGCCGGG	0.642000														36			14		0	0	0.002450	0	0
TMC1	117531	broad.mit.edu	37	9	75406915	75406915	+	Silent	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:75406915T>A	uc004aiz.1	+	15	1878	c.1338T>A	c.(1336-1338)atT>atA	p.I446I	TMC1_uc010moz.1_Silent_p.I404I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.I300I|TMC1_uc010mpa.1_Silent_p.I300I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	446					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						TGGGACGCATTTTTGCTCTTC	0.388000														33			54		0	0	0.003610	0	0
POLD1	5424	broad.mit.edu	37	19	50905495	50905495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50905495C>T	uc010eny.3	+	4	624	c.623C>T	c.(622-624)cCg>cTg	p.P208L	POLD1_uc002psb.4_Missense_Mutation_p.P208L|POLD1_uc002psc.4_Missense_Mutation_p.P208L|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	208					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCCCTCCCCGTTCCTGCGC	0.701000								DNA polymerases (catalytic subunits)						46			21		0	0	0.001882	0	0
CYB5R3	1727	broad.mit.edu	37	22	43015823	43015823	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:43015823G>A	uc003bcz.3	-	8	946	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	CYB5R3_uc011aps.2_Silent_p.L321L|CYB5R3_uc021wqn.1_Silent_p.L265L|CYB5R3_uc003bcy.3_Silent_p.L265L|CYB5R3_uc003bcx.3_Silent_p.L265L	NM_000398	NP_000389	P00387	NB5R3_HUMAN	Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant 1, mRNA.	288					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	ACGTGGTCCAGGTTGGGAAGG	0.692000														22			7		0	0	0.003080	0	0
GALNT2	2590	broad.mit.edu	37	1	230415147	230415147	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:230415147G>A	uc010pwa.1	+	15	1731	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	GALNT2_uc010pvy.1_Silent_p.E515E|GALNT2_uc001htu.2_Silent_p.E165E	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	553	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TAAGCGTGGAGGTGTGTGGCC	0.637000														48			41		0	0	0.002852	0	0
ADAM28	10863	broad.mit.edu	37	8	24201063	24201063	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:24201063C>T	uc003xdy.3	+	17	2039	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.I339I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	652	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGATGGATCCCTCCCGACT	0.488000														23			4		0	0	0.001168	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802602	185802602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:185802602G>A	uc002uph.3	+	3	3073	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	827						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACTTTAGAACTCAAAGA	0.388000														32			13		0	0	0.001855	0	0
DUSP9	1852	broad.mit.edu	37	X	152915590	152915590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:152915590C>T	uc004fhx.4	+	3	1189	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	DUSP9_uc004fhy.4_Missense_Mutation_p.P329S	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	329	Tyrosine-protein phosphatase.				JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAACATCTCCCCCAACTTCAA	0.587000														155			194		0	0	0.003610	0	0
PTK7	5754	broad.mit.edu	37	6	43109934	43109934	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:43109934C>T	uc011dve.1	+	12	2010	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	PTK7_uc003oub.1_Silent_p.S648S|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.S608S|PTK7_uc003oue.1_Silent_p.S518S|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	648	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGAATGGCTCCCTGGTGATCC	0.632000														25			53		0	0	0.003610	0	0
OTOP2	92736	broad.mit.edu	37	17	72926963	72926963	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72926963C>T	uc010wrp.2	+	5	1325	c.1233C>T	c.(1231-1233)atC>atT	p.I411I		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	411						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTCATGATCGCCCAGCACA	0.612000														30			52		0	0	0.003610	0	0
TRPV1	7442	broad.mit.edu	37	17	3477043	3477043	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3477043G>A	uc010vro.2	-	12	2053	c.2020C>T	c.(2020-2022)Ctg>Ttg	p.L674L	TRPV1_uc010vrp.2_Silent_p.L603L|TRPV1_uc010vrq.2_Silent_p.L661L|TRPV1_uc010vrr.2_Silent_p.L663L|TRPV1_uc010vrs.2_Silent_p.L663L|TRPV1_uc010vrt.2_Silent_p.L663L|TRPV1_uc010vru.2_Silent_p.L663L	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	663					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCCAGCAGCAGGATGATGAAG	0.522000														49			17		0	0	0.007413	0	0
WDFY3	23001	broad.mit.edu	37	4	85664947	85664947	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:85664947G>A	uc003hpd.3	-	36	6387	c.5979C>T	c.(5977-5979)tcC>tcT	p.S1993S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1993						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCTTTCAGGGGAAGCCTAAT	0.313000														35			18		0	0	0.001216	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740413	50740413	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:50740413C>T	uc003paf.3	+	7	1707	c.1195C>T	c.(1195-1197)Caa>Taa	p.Q399*	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	399	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAGCACTTTCCAAACAGTTCT	0.463000														21			19		0	0	0.002299	0	0
TDRD1	56165	broad.mit.edu	37	10	115970409	115970409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:115970409C>T	uc001lbg.1	+	11	1607	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	TDRD1_uc001lbf.3_Missense_Mutation_p.P476L|TDRD1_uc001lbh.1_Missense_Mutation_p.P476L|TDRD1_uc001lbi.1_Missense_Mutation_p.P476L|TDRD1_uc010qsc.2_Missense_Mutation_p.P146L|TDRD1_uc001lbj.3_Missense_Mutation_p.P194L	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	485					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GACCTAATCCCAAAAGTGTTA	0.383000														2			5		0	0	0.000602	0	0
VNN2	8875	broad.mit.edu	37	6	133072435	133072435	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:133072435T>A	uc003qdt.3	-	4	1060	c.1049A>T	c.(1048-1050)gAa>gTa	p.E350V	VNN2_uc003qds.3_Missense_Mutation_p.E59V|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.E297V	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	350					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCAAAAAGTTCTGTGAAGTT	0.388000														16			9		0	0	0.006214	0	0
YWHAQ	10971	broad.mit.edu	37	2	9728293	9728293	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:9728293C>T	uc002qzx.3	-	4	701	c.582_splice	c.e4+1	p.T194_splice		NM_006826	NP_006817	P27348	1433T_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA.	194					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ACACATCTTACCGTTTTAGCC	0.408000														7			11		0	0	0.003163	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238134	132238134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:132238134G>A	uc002tsu.4	+	3	1061	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	290					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTCTGTGGCCGAGATCACCAA	0.597000														129			67		0	0	0.003610	0	0
IL16	3603	broad.mit.edu	37	15	81582851	81582852	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:81582851_81582852GG>AA	uc021ssh.1	+	9	1491_1492	c.1390_1391GG>AA	c.(1390-1392)gga>AAa	p.G464K	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.G464K|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.G506K|IL16_uc021ssg.1_Missense_Mutation_p.G464K|IL16_uc002bgg.3_Missense_Mutation_p.G464K|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.3_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	464					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.F463I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACCAAGTTTGGAAAGGAGAGG	0.411000														38			35		0	0	0.004672	0	0
SEPT14	346288	broad.mit.edu	37	7	55863729	55863729	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:55863729G>A	uc003tqz.2	-	9	1293	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	392					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCTTCCTCGAGCTTCCTTA	0.438000														37			13		0	0	0.001855	0	0
C1orf95	375057	broad.mit.edu	37	1	226788371	226788372	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:226788371_226788372CC>TT	uc021pjx.1	+	2	492_493	c.387_388CC>TT	c.(385-390)tcccaa>tcTTaa	p.Q130*	C1orf95_uc021pjw.1_Intron	NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	Homo sapiens chromosome 1 open reading frame 95 (C1orf95), mRNA.	130						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CTGCAGTTTCCCAAGGTGAGTC	0.614000														61			42		0	0	0.004672	0	0
EIF3A	8661	broad.mit.edu	37	10	120818836	120818837	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:120818836_120818837GG>AA	uc001ldu.3	-	10	1662_1663	c.1516_1517CC>TT	c.(1516-1518)ccg>TTg	p.P506L	EIF3A_uc010qsu.2_Missense_Mutation_p.P472L	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	506					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGGACCAATCGGAGCATCTTCT	0.401000														3			30		0	0	0.004672	0	0
OR7G3	390883	broad.mit.edu	37	19	9237093	9237093	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9237093G>A	uc010xkl.2	-	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CTAGTTCACAGAAAAAGTGGG	0.473000														51			46		0	0	0.003610	0	0
ACACA	31	broad.mit.edu	37	17	35518742	35518742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:35518742G>A	uc002hnm.3	-	41	5382	c.5191C>T	c.(5191-5193)Cgc>Tgc	p.R1731C	ACACA_uc002hnk.3_Missense_Mutation_p.R1653C|ACACA_uc002hnl.3_Missense_Mutation_p.R1673C|ACACA_uc002hnn.3_Missense_Mutation_p.R1731C|ACACA_uc002hno.3_Missense_Mutation_p.R1768C|ACACA_uc010cuy.3_Missense_Mutation_p.R376C|ACACA_uc010wdc.2_5'UTR	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1731	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.R1673C(2)|p.R1768C(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACATATGGCGAATTTCTTCT	0.448000														48			26		0	0	0.005443	0	0
SCN11A	11280	broad.mit.edu	37	3	38936350	38936351	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38936350_38936351CC>TT	uc021wvy.1	-	14	2707_2708	c.2508_2509GG>AA	c.(2506-2511)ctggat>ctAAat	p.D837N	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	837					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGGAATCGATCCAGTGCTAACT	0.446000														13			21		0	0	0.004672	0	0
VCX3B	425054	broad.mit.edu	37	X	8434287	8434287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:8434287G>A	uc011mht.2	+	2	911	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	VCX3B_uc004csd.1_Missense_Mutation_p.E152K|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	202	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAGGTGGAGGAACCACTGAG	0.572000														407			102		0	0	0.003610	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377663	138377663	+	Missense_Mutation	SNP	C	T	T	rs146635515	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138377663C>T	uc022bpi.1	+	0	1307	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	PPP1R26_uc004cfr.1_Missense_Mutation_p.P436L	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	436						nucleolus	protein binding										ACCATGGACCCTGGTCCAGGG	0.587000														26			9		0	0	0.006214	0	0
SPIRE2	84501	broad.mit.edu	37	16	89925619	89925619	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:89925619C>G	uc002foz.1	+	8	1371	c.1319C>G	c.(1318-1320)tCc>tGc	p.S440C	SPIRE2_uc010civ.1_Missense_Mutation_p.S355C|SPIRE2_uc010ciw.1_Missense_Mutation_p.S440C|SPIRE2_uc002fpa.1_Missense_Mutation_p.S392C|SPIRE2_uc010cix.1_Missense_Mutation_p.S307C	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	440					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CGGGACCGCTCCTTCTCAGAG	0.677000														31			20		0	0	0.002299	0	0
DIEXF	27042	broad.mit.edu	37	1	210014267	210014267	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:210014267C>A	uc001hhr.2	+	7	1449	c.1352C>A	c.(1351-1353)tCc>tAc	p.S451Y	DIEXF_uc009xcu.2_Missense_Mutation_p.S166Y	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTCATTGCTTCCCCCCTGGGC	0.468000														24			18		0.000132079	0.000249882	0.001216	1	0
SPTBN2	6712	broad.mit.edu	37	11	66455487	66455487	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:66455487T>A	uc001ojc.1	-	0	64	c.20A>T	c.(19-21)gAg>gTg	p.E7V	SPTBN2_uc001ojd.3_Silent_p.G2146G			O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	0	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.S6L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGAGGGCTCTCCATCTGTGC	0.577000														19			32		0	0	0.002445	0	0
SPTA1	6708	broad.mit.edu	37	1	158609735	158609735	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158609735C>T	uc001fst.1	-	33	4999	c.4800G>A	c.(4798-4800)ggG>ggA	p.G1600G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1600					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTCTTCCCTTTGTCAT	0.473000														13			27		0	0	0.007291	0	0
ALB	213	broad.mit.edu	37	4	74283322	74283322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74283322G>A	uc003hgs.4	+	10	1437	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	ALB_uc011cbe.2_Missense_Mutation_p.G134E|ALB_uc003hgw.4_Missense_Mutation_p.G263E|ALB_uc011cbf.2_Missense_Mutation_p.G345E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	455	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGAAACCTAGGAAAAGTGGGC	0.358000														7			11		0	0	0.000673	0	0
UNC45B	146862	broad.mit.edu	37	17	33482456	33482456	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:33482456C>T	uc002hja.3	+	6	878	c.781C>T	c.(781-783)Cga>Tga	p.R261*	UNC45B_uc002hjb.3_Nonsense_Mutation_p.R261*|UNC45B_uc002hjc.3_Nonsense_Mutation_p.R261*|UNC45B_uc010cto.3_Nonsense_Mutation_p.R261*	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	261					cell differentiation|muscle organ development	cytosol	binding	p.R261R(2)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCGGGAGCATCGAGGGAAGGA	0.527000														139			32		0	0	0.007835	0	0
MICALCL	84953	broad.mit.edu	37	11	12315719	12315719	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:12315719G>A	uc001mkg.1	+	2	1032	c.741G>A	c.(739-741)caG>caA	p.Q247Q		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	247					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAGGGGCCCAGGAGAAGATGG	0.632000														12			19		0	0	0.001216	0	0
CNTN4	152330	broad.mit.edu	37	3	3076351	3076351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:3076351G>A	uc003bpc.3	+	16	2158	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	CNTN4_uc003bpb.1_Missense_Mutation_p.E278K|CNTN4_uc021wsg.1_Missense_Mutation_p.E607K|CNTN4_uc003bpd.1_Missense_Mutation_p.E607K|CNTN4_uc003bpe.3_Missense_Mutation_p.E279K|CNTN4_uc003bpf.3_Missense_Mutation_p.E278K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	607	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GACAATAGACGAAATCACAGA	0.537000														7			5		0	0	0.000602	0	0
GABRD	2563	broad.mit.edu	37	1	1961505	1961505	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:1961505C>T	uc001aip.2	+	8	1238	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	381						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCCGGCAGCGCCGCGTCCCGG	0.692000														2			17		0	0	0.006122	0	0
PNMT	5409	broad.mit.edu	37	17	37824853	37824853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:37824853C>T	uc002hsi.1	+	0	347	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_002686	NP_002677	P11086	PNMT_HUMAN	Homo sapiens phenylethanolamine N-methyltransferase (PNMT), mRNA.	42					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AACTACGCGCCCCCTCGCGGG	0.726000														12			9		0	0	0.006214	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185302	39185302	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:39185302G>A	uc003cjg.3	-	4	1228	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	CSRNP1_uc003cjh.3_Silent_p.P338P	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	338					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CATTGTTCATGGGGGGCTTGG	0.607000														52			18		0	0	0.001216	0	0
MEGF8	1954	broad.mit.edu	37	19	42848125	42848125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:42848125C>T	uc002otl.4	+	9	2323	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	MEGF8_uc002otm.4_Missense_Mutation_p.S104F	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	563	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GACTACTGCTCCATGTACACA	0.662000														41			21		0	0	0.003954	0	0
DCAF6	55827	broad.mit.edu	37	1	168014418	168014418	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:168014418C>T	uc001gew.3	+	13	2333	c.1980C>T	c.(1978-1980)gaC>gaT	p.D660D	DCAF6_uc001gex.3_Silent_p.D737D|DCAF6_uc010plk.2_Silent_p.D706D|DCAF6_uc001gev.3_Silent_p.D680D|DCAF6_uc001gey.3_Silent_p.D533D|DCAF6_uc001gez.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	660					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GTGATGATGACCCAGTCCTGA	0.453000														35			16		0	0	0.004990	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310380	57310380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57310380G>A	uc021qjh.1	+	0	267	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	89										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGGGAAAGAGGATGCTGAGGC	0.522000														10			4		0	0	0.000602	0	0
SPINK5	11005	broad.mit.edu	37	5	147486632	147486632	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:147486632G>A	uc003lox.2	+	16	1585	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	SPINK5_uc010jgs.1_Silent_p.R476R|SPINK5_uc010jgr.2_Silent_p.R485R|SPINK5_uc003low.2_Silent_p.R504R|SPINK5_uc003loy.2_Silent_p.R504R	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	504	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAGTGAGGAATGGAACAC	0.438000														8			5		0	0	0.001168	0	0
CORIN	10699	broad.mit.edu	37	4	47685847	47685847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:47685847C>T	uc003gxm.3	-	6	1015	c.922G>A	c.(922-924)Gag>Aag	p.E308K	CORIN_uc011bzf.2_Missense_Mutation_p.E169K|CORIN_uc011bzg.2_Missense_Mutation_p.E241K|CORIN_uc011bzh.1_Missense_Mutation_p.E308K|CORIN_uc011bzi.1_Missense_Mutation_p.E308K|CORIN_uc003gxn.4_Missense_Mutation_p.E308K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	308	LDL-receptor class A 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.S307S(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AACAGATTCTCGCTGCAGTCT	0.433000														9			12		0	0	0.001368	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72336987	72336987	+	RNA	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:72336987C>A	uc010lal.1	-	0		c.2669G>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GAGGCCGGCCCGGCTGAAATA	0.517000														267			6		0.00307968	0.00580777	0.003080	1	0
COL11A1	1301	broad.mit.edu	37	1	103380351	103380351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:103380351C>T	uc001dum.3	-	50	4187	c.3869G>A	c.(3868-3870)aGa>aAa	p.R1290K	COL11A1_uc001duk.3_Missense_Mutation_p.R474K|COL11A1_uc001dul.3_Missense_Mutation_p.R1278K|COL11A1_uc001dun.3_Missense_Mutation_p.R1239K|COL11A1_uc009weh.3_Missense_Mutation_p.R1162K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1278	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R1290T(2)|p.R1278T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTCTCCTCTTTCTCCTTT	0.453000														7			4		0	0	0.000248	0	0
XPO7	23039	broad.mit.edu	37	8	21859730	21859730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:21859730G>A	uc003xaa.4	+	24	2992	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	964					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCTGAACCAGGAGAGCGACCG	0.557000														12			8		0	0	0.003080	0	0
RGL4	266747	broad.mit.edu	37	22	24036014	24036014	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:24036014G>A	uc002zxo.3	+	3	2022	c.765G>A	c.(763-765)ggG>ggA	p.G255G	GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.G255G|RGL4_uc002zxp.1_Silent_p.G119G|RGL4_uc002zxq.3_Silent_p.G119G			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	255	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ATCTGAAGGGGAATGAGCACA	0.587000														62			45		0	0	0.003610	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238544	71238544	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:71238544C>T	uc001oqq.1	+	0	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	66	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G66G(2)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652000														177			56		0	0	0.003610	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286189	11286189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:11286189G>A	uc009zhs.1	-	0	655	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTGGTGCTGGGATCTTGAGAT	0.413000														190			16		0	0	0.007413	0	0
CCDC157	550631	broad.mit.edu	37	22	30765589	30765589	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:30765589C>T	uc011aku.2	+	3	1077	c.417C>T	c.(415-417)ccC>ccT	p.P139P	CCDC157_uc011akv.2_Silent_p.P139P	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	139										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGCCACTCCCCCAGGTGGGTC	0.682000														5			4		0	0	0.000248	0	0
GPR50	9248	broad.mit.edu	37	X	150349148	150349148	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:150349148G>T	uc010ntg.2	+	1	1231	c.1093G>T	c.(1093-1095)Gtc>Ttc	p.V365F		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	365	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGATGAATGTCCGGAATGT	0.632000														58			76		1.04643e-32	2.00996e-32	0.003610	1	0
NUCB2	4925	broad.mit.edu	37	11	17332783	17332783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:17332783G>A	uc001mmw.3	+	7	958	c.713G>A	c.(712-714)gGa>gAa	p.G238E	NUCB2_uc001mmv.1_Missense_Mutation_p.G238E|NUCB2_uc009ygz.3_Missense_Mutation_p.G238E	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	238	Binds to necdin (By similarity).					ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGACTGATGGATTGGATCCT	0.308000														22			6		0	0	0.004482	0	0
LOC440040	440040	broad.mit.edu	37	11	49830124	49830124	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:49830124C>T	uc010rhy.2	+	5	1442	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	LOC440040_uc009ymb.3_Silent_p.L322L					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		GCCCCAGCCTCTGAATCTAGA	0.468000														21			6		0	0	0.000978	0	0
BAIAP2	10458	broad.mit.edu	37	17	79090085	79090085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79090085C>T	uc002jzg.2	+	14	1747	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	BAIAP2_uc010wuh.1_3'UTR|BAIAP2_uc002jzd.2_3'UTR|BAIAP2_uc002jzf.2_3'UTR|BAIAP2_uc002jze.2_3'UTR|BAIAP2_uc002jzh.2_3'UTR	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	547					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGGAGCGCCCGCACCCTGGC	0.637000														65			36		0	0	0.001951	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937659	15937659	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:15937659C>T	uc003gom.3	-	2	892	c.597G>A	c.(595-597)gaG>gaA	p.E199E	FGFBP1_uc021xml.1_Silent_p.E199E	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	199	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TATCTGGGTCCTCCACACACT	0.562000														11			10		0	0	0.006214	0	0
TMEM182	130827	broad.mit.edu	37	2	103414385	103414385	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:103414385T>A	uc010fjb.3	+	3	582	c.395T>A	c.(394-396)tTt>tAt	p.F132Y	TMEM182_uc002tcc.4_Missense_Mutation_p.F89Y|TMEM182_uc002tcd.4_Missense_Mutation_p.F36Y|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	132						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						ATCGCAAGCTTTTTGATCATC	0.502000														34			51		0	0	0.003610	0	0
ACSBG1	23205	broad.mit.edu	37	15	78473139	78473139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:78473139G>A	uc002bdh.3	-	8	1417	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	ACSBG1_uc010umx.2_Missense_Mutation_p.A162V|ACSBG1_uc010umw.2_Missense_Mutation_p.A400V|ACSBG1_uc010umy.2_Missense_Mutation_p.A297V	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	404					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CACCGACATGGCCCACAGCAG	0.642000														110			27		0	0	0.002096	0	0
UGT1A1	54658	broad.mit.edu	37	2	234677029	234677029	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234677029G>A	uc002vuw.3	+	3	1251	c.1251G>A	c.(1249-1251)ctG>ctA	p.L417L	UGT1A1_uc010zmv.1_Silent_p.L413L|UGT1A1_uc002vup.3_Silent_p.L413L|UGT1A1_uc002vuq.3_Silent_p.L413L|UGT1A1_uc002vur.3_Silent_p.L413L|UGT1A1_uc010zmw.1_Silent_p.L413L|UGT1A1_uc002vus.3_Silent_p.L413L|UGT1A1_uc010zmx.1_Silent_p.L413L|UGT1A1_uc002vut.3_Silent_p.L413L|UGT1A1_uc002vuu.3_Silent_p.L148L|UGT1A1_uc010zmy.1_Silent_p.L415L|UGT1A1_uc002vuv.4_Silent_p.L415L|UGT1A1_uc010zmz.1_Silent_p.L417L|UGT1A1_uc010zna.1_Silent_p.L417L|UGT1A1_uc002vux.3_Silent_p.L417L|UGT1A1_uc010znb.1_Silent_p.L417L|UGT1A1_uc002vuy.3_Silent_p.L417L|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Silent_p.L416L|UGT1A1_uc002vvb.3_Silent_p.L416L	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	416					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.E417K(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGAATGTTCTGGAAATGACTT	0.423000														41			33		0	0	0.001786	0	0
VASH2	79805	broad.mit.edu	37	1	213134549	213134549	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:213134549G>A	uc001hjy.3	+	1	522	c.318G>A	c.(316-318)acG>acA	p.T106T	VASH2_uc001hju.2_Silent_p.T106T|VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Silent_p.T41T|VASH2_uc010ptn.2_Silent_p.T2T|VASH2_uc001hjw.3_Silent_p.T106T	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	106					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGTCGATGACGATCCCAGACT	0.542000														230			70		0	0	0.003610	0	0
TCN2	6948	broad.mit.edu	37	22	31011750	31011750	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:31011750T>G	uc003aip.2	+	5	1165	c.916T>G	c.(916-918)Ttc>Gtc	p.F306V	TCN2_uc003air.2_Missense_Mutation_p.F279V	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	306					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATCTGATCTTCCCAGACTG	0.537000														105			29		0	0	0.003271	0	0
ALPK2	115701	broad.mit.edu	37	18	56205027	56205027	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:56205027T>A	uc002lhj.4	-	4	2606	c.2392A>T	c.(2392-2394)Aga>Tga	p.R798*	ALPK2_uc002lhk.1_Nonsense_Mutation_p.R129*	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	798							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGCTTCTCTGTCCCTTGGC	0.493000														6			12		0	0	0.001368	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182872188	182872188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:182872188C>T	uc001gpu.3	-	8	1981	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	SHCBP1L_uc001gpv.3_Missense_Mutation_p.G447R|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G424R|SHCBP1L_uc001gpw.3_Missense_Mutation_p.G286R	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	638										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATATTAACTCCACCTAAGGTG	0.303000														81			62		0	0	0.003610	0	0
NOS1	4842	broad.mit.edu	37	12	117660559	117660559	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:117660559C>T	uc001twn.2	-	26	4749	c.4038G>A	c.(4036-4038)gaG>gaA	p.E1346E	NOS1_uc021ren.1_Silent_p.E976E|NOS1_uc021reo.1_Silent_p.E976E|NOS1_uc001twm.2_Silent_p.E1312E	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1312					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCGTGTACAGCTCTCTGAAGA	0.577000														87			32		0	0	0.003755	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497234	134497234	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:134497234G>A	uc022bos.1	-	10	2016	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	RAPGEF1_uc022bot.1_Silent_p.S601S|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Silent_p.S606S|RAPGEF1_uc022bov.1_Silent_p.S606S|RAPGEF1_uc010mzr.1_Silent_p.S47S|RAPGEF1_uc010mzq.1_Silent_p.S47S|RAPGEF1_uc010mzs.1_Silent_p.S47S|RAPGEF1_uc010mzl.1_Silent_p.S47S|RAPGEF1_uc010mzo.1_Silent_p.S47S|RAPGEF1_uc010mzp.1_Silent_p.S47S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	601					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity	p.S619F(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTCCTGCACGGAGTCCACCC	0.597000														18			11		0	0	0.001855	0	0
MAGT1	84061	broad.mit.edu	37	X	77130972	77130972	+	Silent	SNP	G	A	A	rs143799822	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77130972G>A	uc004fof.3	-	1	383	c.321C>T	c.(319-321)atC>atT	p.I107I	MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Silent_p.I107I	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	75					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TGAACATGACGATAACGGAGT	0.408000														152			37		0	0	0.006230	0	0
CPN2	1370	broad.mit.edu	37	3	194063131	194063131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:194063131C>T	uc003fts.3	-	1	391	c.301G>A	c.(301-303)Gac>Aac	p.D101N	CPN2_uc021xix.1_Missense_Mutation_p.D101N	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	101					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		ACCTCCAGGTCCTCCAGCCTG	0.567000														59			21		0	0	0.001523	0	0
FAM65C	140876	broad.mit.edu	37	20	49218919	49218919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:49218919G>A	uc010zyt.2	-	12	1600	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.P446L|FAM65C_uc002xvn.1_Missense_Mutation_p.P446L	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	446										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGGGCAGGGGGTCCTCCCG	0.662000														57			17		0	0	0.007413	0	0
AQP12A	375318	broad.mit.edu	37	2	241631731	241631731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:241631731G>A	uc002vzu.3	+	1	433	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	AQP12A_uc002vzv.3_Non-coding_Transcript	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	122						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTCTGCTGGGCCTGGGAGCT	0.692000														32			7		0	0	0.003080	0	0
NOD2	64127	broad.mit.edu	37	16	50745620	50745620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:50745620G>A	uc002egm.1	+	3	1903	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	NOD2_uc021tia.1_Missense_Mutation_p.E432K|NOD2_uc010cbk.1_Missense_Mutation_p.E573K|NOD2_uc002egl.1_Missense_Mutation_p.E378K|NOD2_uc010cbl.1_Missense_Mutation_p.E378K|NOD2_uc010cbm.1_Missense_Mutation_p.E378K|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	600	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGCGCCCCTGGAATTCCTTCA	0.567000														30			11		0	0	0.000673	0	0
HTATSF1	27336	broad.mit.edu	37	X	135591303	135591303	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135591303G>A	uc004ezw.3	+	7	1310	c.888G>A	c.(886-888)tcG>tcA	p.S296S	HTATSF1_uc004ezx.3_Silent_p.S296S	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	296	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAGAGTGTTCGAAGTTTGGAC	0.383000														46			10		0	0	0.001368	0	0
RBM6	10180	broad.mit.edu	37	3	50095359	50095359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:50095359G>A	uc003cyc.3	+	8	2140	c.1892G>A	c.(1891-1893)aGg>aAg	p.R631K	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Missense_Mutation_p.R150K|RBM6_uc003cyd.3_Missense_Mutation_p.R109K|RBM6_uc011bdi.2_5'UTR|RBM6_uc003cye.3_Missense_Mutation_p.R109K|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	631					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTTCTCGAAGGGAAGGGCCA	0.512000														17			24		0	0	0.003330	0	0
PELI1	57162	broad.mit.edu	37	2	64322368	64322368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:64322368G>A	uc002scs.4	-	5	4764	c.725C>T	c.(724-726)tCg>tTg	p.S242L	PELI1_uc002sct.4_Missense_Mutation_p.S242L|PELI1_uc002scr.4_Missense_Mutation_p.S63L	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	242					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						GTCAATTAACGAGCCATCTTG	0.403000														31			8		0	0	0.001368	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392145	3392145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:3392145C>T	uc002qxm.1	+	1	957	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	TRAPPC12_uc002qxn.1_Missense_Mutation_p.L251F|TRAPPC12_uc010ewm.1_Missense_Mutation_p.L251F	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	251							binding										cccgccTCCCCTCGCTGTGCC	0.721000														10			8		0	0	0.001368	0	0
CHRNA1	1134	broad.mit.edu	37	2	175613498	175613498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:175613498C>T	uc002ujd.2	-	8	1205	c.1127G>A	c.(1126-1128)aGa>aAa	p.R376K	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.R351K	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	376					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R376I(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCTGGATGGTCTTTTCATTGT	0.393000											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			35		0	0	0.003271	0	0
HOXC12	3228	broad.mit.edu	37	12	54348791	54348791	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:54348791C>T	uc010soq.2	+	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_173860	NP_776272	P31275	HXC12_HUMAN	Homo sapiens homeobox C12 (HOXC12), mRNA.	26					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCTTCTACTTCCCCAACTTCC	0.672000														24			22		0	0	0.002299	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140810526	140810526	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140810526T>C	uc003lkt.2	+	0	369	c.200T>C	c.(199-201)aTc>aCc	p.I67T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.I67T	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	67	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L66S(1)		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)			GTCCGCATCATCCCCAGAGGT	0.662000														51			60		0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71508070	71508070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:71508070G>A	uc011caw.1	+	8	1208	c.927G>A	c.(925-927)tgG>tgA	p.W309*		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	309					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAATCCCATGGAGACCAAGTC	0.478000														8			6		0	0	0.001984	0	0
TEK	7010	broad.mit.edu	37	9	27157949	27157949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:27157949G>A	uc011lno.2	+	1	615	c.173G>A	c.(172-174)gGa>gAa	p.G58E	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.G58E|TEK_uc003zqi.4_Missense_Mutation_p.G58E|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.G35E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	58	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATCACCATAGGAAGGGACTTT	0.478000														23			17		0	0	0.007413	0	0
EDEM3	80267	broad.mit.edu	37	1	184681685	184681685	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:184681685A>G	uc010pom.2	-	13	1679	c.1418T>C	c.(1417-1419)tTa>tCa	p.L473S	EDEM3_uc010pok.2_Missense_Mutation_p.L473S|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	473					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCAGCAAATAACAGGTAAAG	0.279000														18			8		0	0	0.003080	0	0
NOXRED1	122945	broad.mit.edu	37	14	77889128	77889128	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77889128G>A	uc001xtr.3	-	0	272	c.105C>T	c.(103-105)atC>atT	p.I35I	NOXRED1_uc010tvi.2_Silent_p.I35I	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	35					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	p.M34V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CACAAGCCTCGATCATCAGTC	0.478000														177			73		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107183648	107183648	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:107183648G>A	uc021ser.1	-	29		c.1930C>T								Parts of antibodies, mostly variable regions.																		GAGTCTCAGGGACCCCCCAGG	0.597000														36			38		0	0	0.002852	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603429	140603429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140603429C>T	uc003ljb.3	+	0	352	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	118	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGTTTTTTCGGTTTGAGCT	0.433000														154			74		0	0	0.003610	0	0
TLE4	7091	broad.mit.edu	37	9	82323159	82323159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:82323159C>T	uc004ald.3	+	12	1987	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	TLE4_uc004alc.3_Missense_Mutation_p.P355S|TLE4_uc010mpr.3_Missense_Mutation_p.P234S|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.P323S|TLE4_uc010mps.3_Missense_Mutation_p.P279S|TLE4_uc004alf.3_Missense_Mutation_p.P294S	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0								p.P355S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGGAGTTGACCCTTTGGGTTA	0.408000														57			20		0	0	0.003954	0	0
RGPD3	653489	broad.mit.edu	37	2	107049638	107049638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:107049638C>T	uc010ywi.1	-	15	2366	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	770					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATCCGCATTTCGCAAAGAACC	0.388000														146			25		0	0	0.001512	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769552	15769552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15769552C>T	uc010xok.2	+	11	1380	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	CYP4F3_uc010xol.2_Missense_Mutation_p.R444C|CYP4F3_uc002nbj.3_Missense_Mutation_p.R444C|CYP4F3_uc010xom.2_Missense_Mutation_p.R295C|CYP4F3_uc002nbk.3_Missense_Mutation_p.R444C|CYP4F3_uc010xon.2_Missense_Mutation_p.R154C	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	444					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGACCCCTTTCGCTTTGACCC	0.592000														94			88		0	0	0.003610	0	0
BRIP1	83990	broad.mit.edu	37	17	59853824	59853824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:59853824G>A	uc002izk.2	-	13	2341	c.2035C>T	c.(2035-2037)Ctt>Ttt	p.L679F	BRIP1_uc002izl.1_Missense_Mutation_p.L60F	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	679					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GATAACAAAAGTGCTCCCACT	0.423000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						43			15		0	0	0.004990	0	0
MARCO	8685	broad.mit.edu	37	2	119750026	119750026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:119750026G>A	uc002tln.1	+	14	1358	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	MARCO_uc010yyf.1_Missense_Mutation_p.G331E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	409	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGAGCAAGGAGTAAAGGGA	0.448000														20			11		0	0	0.002450	0	0
PDZD2	23037	broad.mit.edu	37	5	32087295	32087295	+	Silent	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:32087295T>A	uc003jhl.3	+	19	4129	c.3741T>A	c.(3739-3741)ccT>ccA	p.P1247P	PDZD2_uc003jhm.3_Silent_p.P1247P	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1247					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCGCTCATCCTGACCCCAGCA	0.587000														84			44		0	0	0.003610	0	0
GLRA3	8001	broad.mit.edu	37	4	175580344	175580344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:175580344G>A	uc003ity.1	-	7	1435	c.932C>T	c.(931-933)tCa>tTa	p.S311L	GLRA3_uc003itz.1_Missense_Mutation_p.S311L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	311					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TTTGACATATGAAACCTAGCC	0.348000														4			7		0	0	0.003080	0	0
ZNF264	9422	broad.mit.edu	37	19	57716817	57716817	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57716817G>A	uc002qob.3	+	2	627	c.213G>A	c.(211-213)gaG>gaA	p.E71E		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		ATGGGCAGGAGCCATGGACCA	0.532000														21			8		0	0	0.004482	0	0
C1RL	51279	broad.mit.edu	37	12	7261754	7261754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7261754C>T	uc001qsn.3	-	0	116	c.23G>A	c.(22-24)gGg>gAg	p.G8E	C1RL_uc009zft.3_Missense_Mutation_p.G8E|C1RL_uc001qso.2_Missense_Mutation_p.G8E|MATL2963_uc001qsp.3_Intron|MATL2963_uc010sgb.1_Intron	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	8					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	p.G8E(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGATATTTCCCCCACACTCT	0.602000											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			4		0	0	0.000602	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														93			6		0	0	0.001168	0	0
ARRB2	409	broad.mit.edu	37	17	4623547	4623547	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:4623547C>T	uc010vsg.2	+	11	1245	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	ARRB2_uc002fyj.3_Silent_p.I318I|ARRB2_uc002fyk.3_Silent_p.I303I|ARRB2_uc002fyl.3_Silent_p.I318I|ARRB2_uc002fym.3_Silent_p.I303I|ARRB2_uc002fyn.3_Silent_p.I126I	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	318	Interaction with TRAF6.				G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCTGGGAATCCTGGTGTCCT	0.622000														20			8		0	0	0.003080	0	0
EP300	2033	broad.mit.edu	37	22	41573662	41573662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:41573662G>A	uc003azl.4	+	30	6342	c.5947G>A	c.(5947-5949)Ggg>Agg	p.G1983R		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1983					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTGGAGCCAGGGATGGGACC	0.607000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					74			26		0	0	0.005443	0	0
KCNC3	3748	broad.mit.edu	37	19	50826956	50826956	+	Silent	SNP	G	A	A	rs147343947		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50826956G>A	uc002pru.1	-	1	1549	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	KCNC3_uc002prt.1_Silent_p.F54F	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	418					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGATGCGGACGAAGCGGACCA	0.657000														39			10		0	0	0.000978	0	0
GTPBP5	26164	broad.mit.edu	37	20	60775749	60775749	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:60775749C>T	uc002yce.4	+	6	875	c.837C>T	c.(835-837)atC>atT	p.I279I	GTPBP5_uc011aaf.2_Silent_p.I121I|GTPBP5_uc011aab.2_Silent_p.I51I|GTPBP5_uc011aac.2_Silent_p.I51I|GTPBP5_uc011aad.2_Silent_p.I51I|GTPBP5_uc011aae.2_Silent_p.I51I	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	279	G.|Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			TGGCCGACATCCCCGGCATCA	0.632000														128			37		0	0	0.004289	0	0
NYAP1	222950	broad.mit.edu	37	7	100086570	100086570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100086570C>T	uc003uvd.1	+	3	1385	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	NYAP1_uc003uve.1_Missense_Mutation_p.P191L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	409	Pro-rich.																CACTCGACACCGTTGCCACCC	0.751000														31			23		0	0	0.003330	0	0
DUSP12	11266	broad.mit.edu	37	1	161722885	161722885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:161722885C>T	uc001gbo.3	+	4	706	c.695C>T	c.(694-696)tCt>tTt	p.S232F		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	232					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTTCGAAGTTCTAGTATTCTG	0.423000														127			99		0	0	0.003610	0	0
ZNF345	25850	broad.mit.edu	37	19	37368393	37368393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:37368393C>T	uc002oex.3	+	2	1042	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	ZNF345_uc021utn.1_Missense_Mutation_p.R221W|ZNF345_uc002oey.4_Missense_Mutation_p.R221W|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.R221W|ZNF345_uc021utp.1_Missense_Mutation_p.R221W|ZNF345_uc021utq.1_Missense_Mutation_p.R221W	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	221					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.R221W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTCAACATCGGCGGATTCA	0.448000														30			8		0	0	0.004482	0	0
GPR141	353345	broad.mit.edu	37	7	37780714	37780714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:37780714C>T	uc003tfm.1	+	0	719	c.719C>T	c.(718-720)cCc>cTc	p.P240L	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	240						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTTTCCTTCCCTACCAGTTC	0.413000														44			21		0	0	0.001216	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777745	56777745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:56777745G>A	uc003jrm.3	-	0	892	c.790C>T	c.(790-792)Cag>Tag	p.Q264*		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	264						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AAGGAAGGCTGGAAAATGGCT	0.517000														14			8		0	0	0.003080	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098231	92098231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:92098231G>A	uc022ahe.1	-	0	1465	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	489					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						tgcatcttgggctccatttgt	0.473000														127			24		0	0	0.002780	0	0
OR2AT4	341152	broad.mit.edu	37	11	74799832	74799832	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:74799832G>A	uc010rro.2	-	0	927	c.927C>T	c.(925-927)atC>atT	p.I309I		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CTTGAGACATGATTTTGGTGA	0.453000														20			29		0	0	0.002445	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977982	12977982	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:12977982G>A	uc003bxt.2	-	2	585	c.576C>T	c.(574-576)ttC>ttT	p.F192F	IQSEC1_uc003bxu.3_Silent_p.F70F|IQSEC1_uc011auw.1_Silent_p.F178F	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	192					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTCCCCTCGAAGTAGGAGC	0.592000														22			38		0	0	0.002522	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773387	140773387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140773387C>T	uc003lkd.2	+	0	1905	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.S336L|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	339	Cadherin 3.				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)			TTGCTCATTTCGGTGGAAGAT	0.398000														247			108		0	0	0.003610	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141751	64141751	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:64141751C>T	uc004dvu.3	-	1	327	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ZC4H2_uc004dvv.3_Silent_p.Q34Q|ZC4H2_uc022byd.1_Silent_p.Q34Q|ZC4H2_uc022byc.1_Silent_p.Q34Q|ZC4H2_uc011mow.2_Silent_p.Q57Q|ZC4H2_uc011mov.2_Silent_p.Q34Q|ZC4H2_uc004dvw.2_Silent_p.Q57Q	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	57							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCATCTTCTCCTGTAGCAGAA	0.512000														10			5		0	0	0.001168	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712086	121712086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:121712086G>A	uc001tzv.3	-	1	1073	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	CAMKK2_uc001tzt.3_Missense_Mutation_p.P82S|CAMKK2_uc001tzu.3_Missense_Mutation_p.P82S|CAMKK2_uc001tzw.3_Missense_Mutation_p.P82S|CAMKK2_uc001tzx.3_Missense_Mutation_p.P82S|CAMKK2_uc001tzy.3_Missense_Mutation_p.P82S|CAMKK2_uc001uaa.1_Missense_Mutation_p.P82S|CAMKK2_uc001uab.3_Missense_Mutation_p.P82S|CAMKK2_uc001uac.3_Missense_Mutation_p.P82S|CAMKK2_uc001uad.2_Missense_Mutation_p.P82S	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	82					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	p.P82R(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGTCAAGGGGGACCTCTTGG	0.697000														234			115		0	0	0.003610	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74873720	74873720	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:74873720C>T	uc001owb.3	+	1	432	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	SLCO2B1_uc010rrp.1_Non-coding_Transcript|SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_Intron|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_5'UTR	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	13					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGAGGTACCCCAGGTACCAGA	0.552000														97			163		0	0	0.003610	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815352	147815352	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:147815352G>C	uc003weu.2	+	15	3042	c.2526G>C	c.(2524-2526)aaG>aaC	p.K842N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	842	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATATGGGAAAGGAAGATTTCA	0.463000										HNSCC(39;0.1)				29			5		0	0	0.000602	0	0
WIPF2	147179	broad.mit.edu	37	17	38420864	38420864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38420864C>T	uc002hug.1	+	4	676	c.436C>T	c.(436-438)Cca>Tca	p.P146S	WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Missense_Mutation_p.P146S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P146S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	146						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGCCTCACTCCCAGAACTGCC	0.632000										HNSCC(43;0.11)				56			61		0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8524996	8524996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:8524996C>T	uc003zkk.3	-	17	1351	c.608G>A	c.(607-609)gGa>gAa	p.G203E	PTPRD_uc003zkp.3_Missense_Mutation_p.G203E|PTPRD_uc003zkq.3_Missense_Mutation_p.G203E|PTPRD_uc003zkr.3_Missense_Mutation_p.G197E|PTPRD_uc003zks.3_Missense_Mutation_p.G197E|PTPRD_uc022bdj.1_Missense_Mutation_p.G200E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	203	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCATATTTTCCTTGGTCAGA	0.453000										TSP Lung(15;0.13)				6			7		0	0	0.003080	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53106006	53106006	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:53106006G>A	uc001vgw.3	+	13		c.1552G>A								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		AAGGTGATACGAAAGGGATGG	0.289000														2			4		0	0	0.003080	0	0
C3orf23	285343	broad.mit.edu	37	3	44434414	44434414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:44434414G>A	uc003cnd.4	+	5	1067	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	C3orf23_uc010him.3_Missense_Mutation_p.E214K|C3orf23_uc003cne.4_Missense_Mutation_p.E70K	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	214						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		ACTTAGAAAAGAACTAGATCG	0.323000														88			38		0	0	0.006230	0	0
V_alpha_immunoglobulin	0	broad.mit.edu	37	14	22675939	22675939	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:22675939A>G	uc001wdk.2	+	1	263	c.251A>G	c.(250-252)aAg>aGg	p.K84R	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406.																		ATAACTGCCAAGTTGGATGAG	0.458000														7			4		0	0	0.000248	0	0
GUCY2D	3000	broad.mit.edu	37	17	7916509	7916509	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:7916509C>T	uc002gjt.2	+	10	2276	c.2202C>T	c.(2200-2202)atC>atT	p.I734I		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	734	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCTTGGCCATCATCATGCAAG	0.657000														38			19		0	0	0.001523	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985041	140985041	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:140985041G>A	uc011mwp.2	+	6	1497	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	MAGEC3_uc004fbs.3_Silent_p.G201G|MAGEC3_uc010nsj.3_Silent_p.G201G|MAGEC3_uc022cfh.1_Silent_p.G201G	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	499	MAGE 2.							p.F498F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCTTCGGGAAAGCCCATG	0.428000														103			64		0	0	0.003610	0	0
APH1A	51107	broad.mit.edu	37	1	150239809	150239809	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150239809C>A	uc001ety.2	-	3	827	c.428G>T	c.(427-429)gGg>gTg	p.G143V	APH1A_uc001etz.2_Missense_Mutation_p.G143V|APH1A_uc010pbx.2_Missense_Mutation_p.G73V|APH1A_uc010pby.2_Missense_Mutation_p.G86V|APH1A_uc010pbz.2_Missense_Mutation_p.G27V	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	143					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACACCTGGCCCAAGTGCATC	0.488000														38			49		3.68337e-26	7.0647e-26	0.003610	1	0
DDR2	4921	broad.mit.edu	37	1	162743360	162743360	+	Silent	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:162743360C>A	uc001gcf.3	+	14	2295	c.1830C>A	c.(1828-1830)ctC>ctA	p.L610L	DDR2_uc001gcg.3_Silent_p.L610L	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	610	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TGAAAATGCTCCGAGCAGATG	0.438000														24			12		1.3612e-06	2.57989e-06	0.003163	1	0
POLR3A	11128	broad.mit.edu	37	10	79781316	79781316	+	Silent	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:79781316A>T	uc001jzn.3	-	7	1306	c.1173T>A	c.(1171-1173)acT>acA	p.T391T		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	391					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCTCAGGAAAAGTTAGAATTT	0.423000														13			13		0	0	0.002450	0	0
MYH8	4626	broad.mit.edu	37	17	10296528	10296528	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10296528C>T	uc002gmm.2	-	36	5262	c.5167_splice	c.e36-1	p.N1723_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1723					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACTGGTATTCTGTTAAAAGT	0.398000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					130			39		0	0	0.001951	0	0
ATP8A1	10396	broad.mit.edu	37	4	42580307	42580307	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:42580307C>T	uc003gwr.2	-	11	1330	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V	ATP8A1_uc003gws.2_Silent_p.V366V|ATP8A1_uc011byz.1_Silent_p.V366V	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	366					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GGGTAAATTTCACAACTTCTA	0.333000														17			16		0	0	0.004990	0	0
DIP2A	23181	broad.mit.edu	37	21	47978182	47978182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47978182C>T	uc002zjo.2	+	31	4028	c.3845C>T	c.(3844-3846)gCc>gTc	p.A1282V	DIP2A_uc011afz.1_Missense_Mutation_p.A1278V|DIP2A_uc002zjr.3_Missense_Mutation_p.A249V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1282					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ATGGTGGTCGCCGAGGAGCGG	0.667000														30			17		0	0	0.007413	0	0
UNC13C	440279	broad.mit.edu	37	15	54542502	54542502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:54542502G>A	uc021smr.1	+	5	3302	c.3302G>A	c.(3301-3303)tGg>tAg	p.W1101*	UNC13C_uc021sms.1_Nonsense_Mutation_p.W1103*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1103					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGAGGTCTGGACGGCTACC	0.493000														29			10		0	0	0.000673	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572475	120572475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:120572475G>A	uc001txo.3	-	51	7077	c.7064C>T	c.(7063-7065)gCc>gTc	p.A2355V		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2355					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)					GTCCTGCAGGGCTTTGGTGAA	0.587000														94			27		0	0	0.002096	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580627	140580627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140580627G>A	uc003liy.3	+	0	1280	c.1280G>A	c.(1279-1281)gGg>gAg	p.G427E		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	427	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGACTTGGGGATACCCAGG	0.507000														69			38		0	0	0.004878	0	0
SCN2A	6326	broad.mit.edu	37	2	166172038	166172038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:166172038G>A	uc002udc.3	+	10	1731	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R	SCN2A_uc002udd.3_Missense_Mutation_p.G481R|SCN2A_uc002ude.3_Missense_Mutation_p.G481R	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	481					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGGTGGGATAGGAGTTTTTTC	0.423000														54			20		0	0	0.003330	0	0
CREBRF	153222	broad.mit.edu	37	5	172537614	172537614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:172537614C>T	uc003mch.3	+	5	1826	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	CREBRF_uc011dfd.1_Missense_Mutation_p.R503W	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	503							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CAATGAACTTCGGAAACTGAA	0.428000														28			18		0	0	0.006122	0	0
ACSF2	80221	broad.mit.edu	37	17	48551881	48551881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48551881C>T	uc010wmm.1	+	16	1995	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*	ACSF2_uc002iqu.2_Nonsense_Mutation_p.R606*|ACSF2_uc010wml.1_Nonsense_Mutation_p.R563*|ACSF2_uc010wmn.1_Nonsense_Mutation_p.R593*|ACSF2_uc010wmo.1_Nonsense_Mutation_p.R446*|ACSF2_uc010dbt.1_Nonsense_Mutation_p.R110*	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	606					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATTCAAACTTCGAGAGCAGAT	0.468000														37			41		0	0	0.003610	0	0
ALB	213	broad.mit.edu	37	4	74277825	74277825	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74277825G>T	uc003hgs.4	+	6	899	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Nonsense_Mutation_p.E84*|ALB_uc011cbf.2_Nonsense_Mutation_p.E166*	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	276	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGATCTGCTTGAATGTGCTGA	0.453000														25			21		6.21321e-17	1.18781e-16	0.002780	1	0
BTBD9	114781	broad.mit.edu	37	6	38560550	38560550	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:38560550A>G	uc003ooa.4	-	4	1192	c.616T>C	c.(616-618)Tta>Cta	p.L206L	BTBD9_uc010jwv.3_Silent_p.L147L|BTBD9_uc003ony.4_Silent_p.L138L|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.L206L	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	206	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CAGTTTAATAAGGCTAGGAAA	0.383000														39			16		0	0	0.004007	0	0
SYTL2	54843	broad.mit.edu	37	11	85447646	85447646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:85447646G>A	uc010rth.2	-	4	870	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	SYTL2_uc010rtg.2_Missense_Mutation_p.P162S|SYTL2_uc010rti.2_Missense_Mutation_p.P161S|SYTL2_uc010rtj.2_Missense_Mutation_p.P113S|SYTL2_uc001pbf.4_Missense_Mutation_p.P161S|SYTL2_uc010rtf.2_Missense_Mutation_p.P19S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	161					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTATTAAACGGATTCTTCCTC	0.338000														56			22		0	0	0.002299	0	0
PRF1	5551	broad.mit.edu	37	10	72358523	72358523	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:72358523G>A	uc009xqg.3	-	2	1115	c.954C>T	c.(952-954)atC>atT	p.I318I	PRF1_uc001jrf.4_Silent_p.I318I	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	318	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCCCGGCCTGGATCCCGAACA	0.637000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					35			32		0	0	0.003271	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891473	18891473	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:18891473T>G	uc001rdy.3	+	0	429	c.271T>G	c.(271-273)Tct>Gct	p.S91A	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	91					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAGCAAACTTTCTTTCAAATA	0.403000														14			11		0	0	0.001855	0	0
RPS3A	6189	broad.mit.edu	37	4	152024151	152024151	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:152024151C>T	uc003ilz.3	+	3	534	c.483C>T	c.(481-483)gtC>gtT	p.V161V	RPS3A_uc011cie.1_Silent_p.V161V|RPS3A_uc003ima.1_5'Flank	NM_001006	NP_000997	P61247	RS3A_HUMAN	Homo sapiens ribosomal protein S3A (RPS3A), mRNA.	161					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					ACCAACAGGTCCGCCAAATCC	0.428000														14			9		0	0	0.006214	0	0
KATNAL1	84056	broad.mit.edu	37	13	30829664	30829664	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:30829664G>A	uc001uss.3	-	3	513	c.412C>T	c.(412-414)Cga>Tga	p.R138*	KATNAL1_uc001ust.3_Nonsense_Mutation_p.R138*	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	138						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.R138*(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GGATGTGCTCGGCCTACAGGT	0.488000														143			239		0	0	0.003610	0	0
ITGA7	3679	broad.mit.edu	37	12	56092631	56092631	+	Silent	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:56092631G>T	uc001shh.3	-	5	1093	c.873C>A	c.(871-873)cgC>cgA	p.R291R	ITGA7_uc001shg.3_Silent_p.R287R|ITGA7_uc010sps.2_Silent_p.R194R|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.R174R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	331					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R291R(1)|p.R287R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTGGTTGGCGCGGGGGGCTC	0.622000														18			10		6.72482e-11	1.27914e-10	0.003163	1	0
MIR520A	574467	broad.mit.edu	37	19	54194202	54194202	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54194202G>A	uc021uzs.1	+	0		c.68G>A								Homo sapiens microRNA 520a (MIR520A), microRNA.																		GCTTCCCTTTGGACTGTTTCG	0.458000														34			14		0	0	0.004990	0	0
SLC44A3	126969	broad.mit.edu	37	1	95293164	95293164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:95293164C>T	uc001dqv.4	+	3	487	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SLC44A3_uc001dqx.4_Missense_Mutation_p.S127F|SLC44A3_uc010otq.2_Intron|SLC44A3_uc010otr.2_Missense_Mutation_p.S91F|SLC44A3_uc001dqw.4_Missense_Mutation_p.S79F|SLC44A3_uc010ots.2_Intron|SLC44A3_uc009wds.3_Missense_Mutation_p.S30F|SLC44A3_uc010ott.2_Intron|SLC44A3_uc010otu.1_Intron	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	127						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CAGCTTGACTCCCTGGAAGAG	0.517000														40			30		0	0	0.002836	0	0
INSRR	3645	broad.mit.edu	37	1	156810769	156810770	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:156810769_156810770CC>TT	uc010pht.2	-	21	4088_4089	c.3789_3790GG>AA	c.(3787-3792)ccggaa>ccAAaa	p.E1264K	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1264					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCCGGCATTCCGGGCTGTAGT	0.639000														34			15		0	0	0.004672	0	0
OR10A2	341276	broad.mit.edu	37	11	6891707	6891707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6891707C>T	uc001meu.1	+	0	722	c.722C>T	c.(721-723)tCa>tTa	p.S241L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S241P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTCTATATATCATTAAGCCTC	0.433000														46			23		0	0	0.003330	0	0
ARMC4	55130	broad.mit.edu	37	10	28149569	28149569	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:28149569C>T	uc009xky.3	-	18	3104	c.3006G>A	c.(3004-3006)gaG>gaA	p.E1002E	ARMC4_uc010qds.2_Silent_p.E527E|ARMC4_uc010qdt.2_Silent_p.E694E|ARMC4_uc001itz.3_Silent_p.E1002E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	1002							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCACCATTCTCATGCATGG	0.438000														2			12		0	0	0.001368	0	0
ODZ1	10178	broad.mit.edu	37	X	123514527	123514527	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:123514527C>T	uc010nqy.3	-	31	8122	c.8058G>A	c.(8056-8058)ggG>ggA	p.G2686G	ODZ1_uc011muj.2_Silent_p.G2685G|ODZ1_uc004euj.3_Silent_p.G2679G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2679					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GCTGCTTTTCCCCTTCTGTCC	0.507000														24			4		0	0	0.001168	0	0
GPLD1	2822	broad.mit.edu	37	6	24448399	24448399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:24448399C>T	uc003ned.1	-	15	1595	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	GPLD1_uc010jpr.1_Missense_Mutation_p.G332E|GPLD1_uc010jps.1_Missense_Mutation_p.G495E	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	495						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGAAGACATTCCTCCTTGTTT	0.458000														56			24		0	0	0.001512	0	0
XAGE5	170627	broad.mit.edu	37	X	52842237	52842237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:52842237G>A	uc004drd.1	+	2	211	c.146G>A	c.(145-147)aGa>aAa	p.R49K		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	Homo sapiens X antigen family, member 5 (XAGE5), mRNA.	49										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GGTCAGAAGAGAGAAGATGAT	0.552000														46			12		0	0	0.003163	0	0
SAMD9	54809	broad.mit.edu	37	7	92732760	92732760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:92732760G>A	uc003umf.3	-	2	2921	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	SAMD9_uc003umg.3_Missense_Mutation_p.S884F|SAMD9_uc022ahg.1_Missense_Mutation_p.S884F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	884						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCATAAAGGAATAAAAATC	0.338000														42			28		0	0	0.005443	0	0
TECTA	7007	broad.mit.edu	37	11	120998804	120998804	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:120998804C>T	uc010rzo.2	+	7	2118	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	706					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGGCTGCTTCCCCAAGCGGG	0.657000														20			38		0	0	0.004878	0	0
HPS4	89781	broad.mit.edu	37	22	26854504	26854504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:26854504G>A	uc003acl.3	-	11	2412	c.1753C>T	c.(1753-1755)Cac>Tac	p.H585Y	HPS4_uc003aci.3_Missense_Mutation_p.H580Y|HPS4_uc003acj.3_Missense_Mutation_p.H449Y|HPS4_uc003ack.3_Missense_Mutation_p.H376Y|HPS4_uc003acn.3_Missense_Mutation_p.H431Y|HPS4_uc003ach.3_Missense_Mutation_p.H320Y	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	585					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCTTTCAGGTGGACTTCCAGC	0.567000									Hermansky-Pudlak syndrome					49			20		0	0	0.007413	0	0
VEZT	55591	broad.mit.edu	37	12	95689939	95689939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:95689939C>T	uc001tdz.2	+	10	1841	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	VEZT_uc001tds.3_Missense_Mutation_p.S531F|VEZT_uc001tdv.3_Missense_Mutation_p.S552F|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	579						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CATGAAGAATCCAAGAGGGTG	0.373000														4			4		0	0	0.000248	0	0
DST	667	broad.mit.edu	37	6	56420376	56420376	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:56420376T>C	uc003pcy.4	-	40	7142	c.7034A>G	c.(7033-7035)aAt>aGt	p.N2345S		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4757					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGAGTTTATTATCCAAGTC	0.448000														16			4		0	0	0.000602	0	0
TGM7	116179	broad.mit.edu	37	15	43584964	43584964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43584964G>A	uc001zrf.1	-	2	387	c.382C>T	c.(382-384)Cac>Tac	p.H128Y		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	128					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G127C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTCACACTGTGACCTTGGCCC	0.473000														216			67		0	0	0.003610	0	0
OR14C36	127066	broad.mit.edu	37	1	248512185	248512185	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248512185C>T	uc010pzl.2	+	0	109	c.109C>T	c.(109-111)Cta>Tta	p.L37L		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTTGGTAACTCTAATGGGAAA	0.438000														23			17		0	0	0.006122	0	0
FMN2	56776	broad.mit.edu	37	1	240497457	240497457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:240497457C>T	uc010pye.2	+	13	4930	c.4705C>T	c.(4705-4707)Ctt>Ttt	p.L1569F	FMN2_uc010pyd.2_Missense_Mutation_p.L1565F|FMN2_uc010pyf.1_Missense_Mutation_p.L211F|FMN2_uc010pyg.2_Missense_Mutation_p.L161F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1565	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCAGGACCTTTTTCAGGC	0.353000														60			17		0	0	0.007413	0	0
ADH1C	126	broad.mit.edu	37	4	100268230	100268230	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:100268230C>T	uc021xqi.1	-	2		c.277G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGCCTAAAATCACAGGAAGGG	0.493000														31			24		0	0	0.003330	0	0
AADACL3	126767	broad.mit.edu	37	1	12785502	12785502	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:12785502C>T	uc009vnn.1	+	3	825	c.592C>T	c.(592-594)Caa>Taa	p.Q198*	AADACL3_uc001aug.1_Nonsense_Mutation_p.Q128*	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	198							hydrolase activity	p.S197L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTTTTTTTCAAAACCTGGA	0.473000														4			33		0	0	0.003755	0	0
DCAF13	25879	broad.mit.edu	37	8	104447900	104447900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:104447900C>T	uc003yln.3	+	7	1565	c.1288C>T	c.(1288-1290)Cat>Tat	p.H430Y	DCAF13_uc003ylm.1_Missense_Mutation_p.H163Y	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	278					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TGTAATGGTCCATATGGATCA	0.373000														29			16		0	0	0.001216	0	0
BTBD17	388419	broad.mit.edu	37	17	72352879	72352879	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72352879A>T	uc002jkn.2	-	2	1354	c.1354T>A	c.(1354-1356)Tcc>Acc	p.S452T		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	452						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						AGGTACTCGGAGTTGCGCCGC	0.662000														43			70		0	0	0.003610	0	0
CCNA1	8900	broad.mit.edu	37	13	37011825	37011825	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:37011825G>A	uc001uvr.4	+	2	707	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CCNA1_uc010teo.2_Silent_p.K75K|CCNA1_uc010abq.3_Silent_p.K75K|CCNA1_uc010abp.3_Silent_p.K75K|CCNA1_uc001uvs.4_Silent_p.K118K|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	119					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGCTGGAAAGAAAGCACTCC	0.488000														56			24		0	0	0.005443	0	0
TRIO	7204	broad.mit.edu	37	5	14280515	14280515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:14280515G>A	uc003jff.3	+	2	323	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.R57K	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	106	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATCTCAGGAGACTCATTTCC	0.453000														24			6		0	0	0.001984	0	0
TRPM7	54822	broad.mit.edu	37	15	50866873	50866873	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:50866873A>T	uc001zyt.4	-	34	5345	c.5063T>A	c.(5062-5064)tTt>tAt	p.F1688Y	TRPM7_uc001zyr.3_Missense_Mutation_p.F125Y	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1688	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CATTTGATTAAAGGCAAACGT	0.333000														108			84		0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324477	79324477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:79324477C>T	uc010mpk.3	-	7	2837	c.2713G>A	c.(2713-2715)Gat>Aat	p.D905N	PRUNE2_uc022bih.1_Missense_Mutation_p.D727N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	905					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTTTAGGATCCACTAAACCA	0.433000														53			43		0	0	0.007835	0	0
SLC15A1	6564	broad.mit.edu	37	13	99374081	99374081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:99374081C>T	uc001vno.3	-	5	519	c.442G>A	c.(442-444)Gga>Aga	p.G148R	SLC15A1_uc001vnp.1_Missense_Mutation_p.G116R	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	148					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AACTGATCTCCACCAAACGCA	0.577000														51			15		0	0	0.001216	0	0
LRRN2	10446	broad.mit.edu	37	1	204588392	204588392	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:204588392G>A	uc021phy.1	-	0	729	c.729C>T	c.(727-729)tcC>tcT	p.S243S	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.S243S|LRRN2_uc001hbf.1_Silent_p.S243S|LRRN2_uc009xbf.1_Silent_p.S243S|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	243					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGTCATAGAAGGAGAGGCTCT	0.642000														44			48		0	0	0.003610	0	0
ADAM18	8749	broad.mit.edu	37	8	39495137	39495137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:39495137G>A	uc003xni.3	+	8	797	c.742G>A	c.(742-744)Gat>Aat	p.D248N	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.D224N	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	248	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CACCAGTGGGGATGCTGATGA	0.383000														10			8		0	0	0.004482	0	0
DNAH11	8701	broad.mit.edu	37	7	21630810	21630810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:21630810G>A	uc003svc.3	+	13	2313	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	761	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G761E(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGTACATTGGAAATCTTGAC	0.363000									Kartagener syndrome					20			6		0	0	0.003080	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482015	140482015	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140482015C>T	uc003lio.3	+	0	1782	c.1782C>T	c.(1780-1782)ggC>ggT	p.G594G	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	594	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGGACGGCGACTCGGGCC	0.711000														156			20		0	0	0.003330	0	0
NLRP4	147945	broad.mit.edu	37	19	56369489	56369489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:56369489G>A	uc002qmd.4	+	2	1152	c.730G>A	c.(730-732)Gat>Aat	p.D244N	NLRP4_uc002qmf.3_Missense_Mutation_p.D169N|NLRP4_uc010etf.3_Missense_Mutation_p.D75N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	244	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAACGAACCCGATTCGGATCT	0.562000														56			27		0	0	0.001512	0	0
MST1P2	11209	broad.mit.edu	37	1	16974312	16974312	+	RNA	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:16974312G>C	uc009vow.2	+	4		c.1122G>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GAGGCCACAAGTGTCAGCTGC	0.657000														37			7		0	0	0.006214	0	0
UBN2	254048	broad.mit.edu	37	7	138968788	138968788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138968788C>T	uc011kqr.2	+	14	3137	c.3137C>T	c.(3136-3138)gCc>gTc	p.A1046V		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1046	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCCAAGCCTGCCACATCTCCT	0.512000														13			16		0	0	0.004990	0	0
SORL1	6653	broad.mit.edu	37	11	121489516	121489516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:121489516G>A	uc001pxx.3	+	41	5767	c.5638G>A	c.(5638-5640)Gac>Aac	p.D1880N	SORL1_uc010rzp.1_Missense_Mutation_p.D726N|SORL1_uc010rzq.1_Missense_Mutation_p.D495N	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1880	Fibronectin type-III 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCCTTTCTTGACCTCTATCG	0.438000														51			23		0	0	0.005443	0	0
THOC2	57187	broad.mit.edu	37	X	122760433	122760433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:122760433C>T	uc004etu.3	-	23	2870	c.2838G>A	c.(2836-2838)atG>atA	p.M946I	Mir_584_uc022cdq.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	946					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTACATGTTCCATCTGTTTCT	0.388000														16			4		0	0	0.000602	0	0
PTPRO	5800	broad.mit.edu	37	12	15661609	15661609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:15661609G>A	uc001rcv.2	+	6	1842	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	PTPRO_uc001rcw.2_Missense_Mutation_p.E458K|PTPRO_uc001rcu.2_Missense_Mutation_p.E458K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	458	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATCTTCCCAAGAGAACTACAA	0.502000														6			13		0	0	0.003163	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113143946	113143946	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113143946T>A	uc001vse.1	-	20	2701	c.2514A>T	c.(2512-2514)gaA>gaT	p.E838D	TUBGCP3_uc010tjq.1_Missense_Mutation_p.E828D	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	838					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.E838*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTGGTATAGATTCTTTAAATT	0.438000														78			30		0	0	0.002836	0	0
RXFP2	122042	broad.mit.edu	37	13	32367062	32367062	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:32367062C>T	uc001utt.3	+	15	1694	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RXFP2_uc010aba.3_Silent_p.I517I	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	541						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CCTCAGTCATCCTCATTTGCA	0.408000														34			18		0	0	0.001216	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374535	8374535	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8374535C>T	uc001qui.2	-	6	1837	c.1278G>A	c.(1276-1278)caG>caA	p.Q426Q	FAM90A1_uc001quh.2_Silent_p.Q426Q	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	426							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CATGAGGGCTCTGAGCGAGGA	0.597000														33			4		0	0	0.000602	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601455	48601455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:48601455G>A	uc010xzd.2	-	5	876	c.539C>T	c.(538-540)cCa>cTa	p.P180L	PLA2G4C_uc002phw.3_Missense_Mutation_p.P105L|PLA2G4C_uc010elr.3_Missense_Mutation_p.P170L|PLA2G4C_uc002phx.3_Missense_Mutation_p.P170L|PLA2G4C_uc002phy.4_Missense_Mutation_p.P170L	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	170	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGCAAATATTGGGTAGGGTAG	0.517000														84			49		0	0	0.003610	0	0
TTC13	79573	broad.mit.edu	37	1	231044745	231044745	+	Silent	SNP	G	A	A	rs150613941		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:231044745G>A	uc001huf.4	-	20	2373	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	TTC13_uc001hug.4_Silent_p.I723I|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Silent_p.I666I	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	777							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GTGCTCCCACGATGACCGAGT	0.418000														160			61		0	0	0.003610	0	0
HTR5A	3361	broad.mit.edu	37	7	154863311	154863311	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:154863311G>A	uc003wlu.1	+	0	766	c.702G>A	c.(700-702)agG>agA	p.R234R	LOC100128264_uc003wlt.2_5'Flank|LOC100128264_uc011kvt.1_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	234						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGGGCTCCAGGAAGACCAATA	0.537000														59			38		0	0	0.005524	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95513820	95513820	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:95513820C>T	uc010fhp.3	-	4		c.585G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATGTCTTGAGCGAAGACATCA	0.358000														469			11		0	0	0.000673	0	0
PCLO	27445	broad.mit.edu	37	7	82764641	82764641	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82764641G>T	uc003uhx.2	-	2	2514	c.2225C>A	c.(2224-2226)tCt>tAt	p.S742Y	PCLO_uc003uhv.2_Missense_Mutation_p.S742Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	688	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCTGCTCAGATGGGACAGA	0.517000														49			40		1.96642e-18	3.76339e-18	0.006999	1	0
GUCY2C	2984	broad.mit.edu	37	12	14769630	14769630	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:14769630T>C	uc001rcd.3	-	24	3044	c.2907A>G	c.(2905-2907)atA>atG	p.I969M		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	969					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCAGGATGGCTATGGTGGAGC	0.428000														21			4		0	0	0.000602	0	0
FERMT1	55612	broad.mit.edu	37	20	6091073	6091073	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:6091073G>A	uc002wmr.3	-	4	1407	c.618C>T	c.(616-618)ttC>ttT	p.F206F	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Silent_p.F206F|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	206	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GGCTGTCACTGAACCAAGTCA	0.522000														43			36		0	0	0.006230	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27829447	27829447	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:27829447C>T	uc001ric.2	+	17	1925	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	PPFIBP1_uc010sjr.1_Silent_p.F347F|PPFIBP1_uc001rib.2_Silent_p.F499F|PPFIBP1_uc001ria.3_Silent_p.F485F|PPFIBP1_uc001rid.2_Silent_p.F363F|PPFIBP1_uc001rif.2_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	516					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ACAACCCCTTCGGCACTCGAA	0.512000														6			12		0	0	0.001855	0	0
MYH7B	57644	broad.mit.edu	37	20	33586701	33586701	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:33586701G>A	uc002xbi.2	+	34	4616	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1391						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAGGACCGAGGAGCTGGAGG	0.637000														19			13		0	0	0.001368	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832956	27832956	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:27832956C>T	uc001ric.2	+	19	2252	c.1875C>T	c.(1873-1875)ccC>ccT	p.P625P	PPFIBP1_uc010sjr.1_Silent_p.P456P|PPFIBP1_uc001rib.2_Silent_p.P619P|PPFIBP1_uc001ria.3_Silent_p.P594P|PPFIBP1_uc001rid.2_Silent_p.P472P|PPFIBP1_uc001rif.2_Silent_p.P132P	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	625					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CCGCGGGGCCCCGATTAGGTT	0.473000														13			15		0	0	0.004007	0	0
CXorf22	170063	broad.mit.edu	37	X	35988925	35988925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:35988925C>T	uc004ddj.3	+	10	1921	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	619										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTATGTGAATCATGATTTTGC	0.269000														8			4		0	0	0.000602	0	0
TFEC	22797	broad.mit.edu	37	7	115580841	115580841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:115580841C>T	uc003vhj.2	-	7	1061	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	TFEC_uc003vhm.2_Missense_Mutation_p.G203R|TFEC_uc003vhk.2_Missense_Mutation_p.G241R|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	270						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GGGCTTGGCCCCTGAGACACA	0.448000														56			36		0	0	0.004289	0	0
NUF2	83540	broad.mit.edu	37	1	163317623	163317623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:163317623C>T	uc001gcq.1	+	11	1319	c.1019C>T	c.(1018-1020)tCg>tTg	p.S340L	NUF2_uc001gcr.1_Missense_Mutation_p.S340L	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	340	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding	p.S340L(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAAGAAAATTCGTTCAAAAGA	0.338000														75			22		0	0	0.001882	0	0
BMPER	168667	broad.mit.edu	37	7	34192882	34192882	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:34192882G>A	uc011kap.2	+	15	2429	c.2055G>A	c.(2053-2055)cgG>cgA	p.R685R		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	685					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTCCCCAGCGGTGACCTTTGT	0.512000														44			11		0	0	0.001368	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413804	22413804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:22413804C>T	uc001yuf.3	+	0	343	c.103C>T	c.(103-105)Ctt>Ttt	p.L35F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GGGATTACTCCTTGTTGTGAT	0.493000														57			15		0	0	0.004990	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595626	44595626	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:44595626G>A	uc002lco.3	+	8	839	c.645G>A	c.(643-645)tgG>tgA	p.W215*	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	287						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TTTCTCCCTGGAAAGGACTAC	0.468000														27			8		0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196728987	196728987	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:196728987A>T	uc002utj.4	-	40	7493	c.7392T>A	c.(7390-7392)caT>caA	p.H2464Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2464	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCTGCGGCAATGATCAATAA	0.463000														21			37		0	0	0.006230	0	0
CBFA2T3	863	broad.mit.edu	37	16	88951664	88951664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:88951664C>T	uc002fmm.2	-	6	1196	c.907G>A	c.(907-909)Ggg>Agg	p.G303R	CBFA2T3_uc002fml.2_Missense_Mutation_p.G217R|CBFA2T3_uc010cif.1_Missense_Mutation_p.G242R|CBFA2T3_uc002fmn.2_Missense_Mutation_p.G278R	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	303	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGGTCTGACCCGTTCTCTTTG	0.667000			T	RUNX1	AML									23			7		0	0	0.003080	0	0
FCGBP	8857	broad.mit.edu	37	19	40357524	40357524	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40357524G>A	uc002omp.4	-	33	15797	c.15789C>T	c.(15787-15789)tcC>tcT	p.S5263S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5263	VWFD 13.					extracellular region	protein binding	p.S5263F(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGGCAGCGGGAAGAGAGCT	0.597000														33			14		0	0	0.003163	0	0
TBC1D21	161514	broad.mit.edu	37	15	74174023	74174024	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74174023_74174024CC>TT	uc002avz.3	+	2	290_291	c.207_208CC>TT	c.(205-210)ttcctc>ttTTtc	p.L70F	TBC1D21_uc010ulc.2_Missense_Mutation_p.L34F	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	70	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTGGAAATTCCTCACGGGCTA	0.599000														15			8		0	0	0.004672	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572111	186572111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186572111G>A	uc010hyy.3	+	3	488	c.353G>A	c.(352-354)gGa>gAa	p.G118E	ADIPOQ_uc003fra.3_Missense_Mutation_p.G118E	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.	118	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		TTCAGTGTGGGATTGGAGACT	0.507000														55			32		0	0	0.002445	0	0
DOCK5	80005	broad.mit.edu	37	8	25177143	25177143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:25177143C>T	uc003xeg.3	+	14	1630	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.S212L|DOCK5_uc003xei.3_Missense_Mutation_p.S68L	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	498	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAATACAAATCAGTAGTCTAT	0.373000														4			6		0	0	0.003080	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368554	37368554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:37368554C>T	uc003cgv.3	+	13	5537	c.5177C>T	c.(5176-5178)tCc>tTc	p.S1726F	GOLGA4_uc010hgr.2_Missense_Mutation_p.S1287F|GOLGA4_uc003cgw.3_Missense_Mutation_p.S1748F|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.S1607F	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1726	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGCAGATTCCCAAGGCTGT	0.368000														47			18		0	0	0.002780	0	0
CST3	1471	broad.mit.edu	37	20	23614577	23614577	+	Silent	SNP	C	T	T	rs77000936	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:23614577C>T	uc002wtm.3	-	2	492	c.417G>A	c.(415-417)tcG>tcA	p.S139S	CST3_uc002wtn.1_Silent_p.S139S	NM_000099	NP_000090	P01034	CYTC_HUMAN	Homo sapiens cystatin C (CST3), mRNA.	139					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AGGTGGATTTCGACAAGGTCA	0.552000														94			74		0	0	0.003610	0	0
NTM	50863	broad.mit.edu	37	11	132016241	132016241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:132016241G>A	uc010sci.2	+	2	564	c.233G>A	c.(232-234)gGg>gAg	p.G78E	NTM_uc001qgm.3_Missense_Mutation_p.G78E|NTM_uc010sch.2_Missense_Mutation_p.G69E|NTM_uc010scj.2_Missense_Mutation_p.G37E|NTM_uc001qgo.3_Missense_Mutation_p.G78E|NTM_uc001qgq.3_Missense_Mutation_p.G78E|NTM_uc001qgp.3_Missense_Mutation_p.G78E	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	78	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CTCTATGCTGGGAATGACAAG	0.567000														8			16		0	0	0.004990	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123648	50123648	+	Missense_Mutation	SNP	C	T	T	rs150189495		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:50123648C>T	uc001vde.1	-	8	1252	c.991G>A	c.(991-993)Gac>Aac	p.D331N		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	331					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCAAACACGTCGTCGGTGCAG	0.632000														16			22		0	0	0.001882	0	0
TAF15	8148	broad.mit.edu	37	17	34169391	34169391	+	Missense_Mutation	SNP	A	G	G	rs144520577	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:34169391A>G	uc002hkd.3	+	11	1020	c.934A>G	c.(934-936)Atc>Gtc	p.I312V	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.I309V	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	312	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCATGGCAACATCATTAAAGT	0.433000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									17			28		0	0	0.001786	0	0
FAM5C	339479	broad.mit.edu	37	1	190234038	190234038	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:190234038A>G	uc001gse.1	-	3	807	c.575T>C	c.(574-576)cTt>cCt	p.L192P	FAM5C_uc010pot.1_Missense_Mutation_p.L90P	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	192						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAGTCTCCGAAGGGTGCTGTC	0.448000														74			56		0	0	0.003610	0	0
CHST13	166012	broad.mit.edu	37	3	126261259	126261259	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:126261259C>T	uc003eja.3	+	2	909	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	288					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		ACCTGAGCTTCCCTgggccgc	0.741000														3			6		0	0	0.004482	0	0
C9orf135	138255	broad.mit.edu	37	9	72501753	72501753	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:72501753G>A	uc004ahl.3	+	5	515	c.450_splice	c.e5-1	p.M150_splice	C9orf135_uc011lrw.2_Splice_Site_p.M42_splice|C9orf135_uc010moq.3_Splice_Site_p.M42_splice|C9orf135_uc011lrx.2_Splice_Site|C9orf135_uc010mop.3_Intron	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	150						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ATCCCTCTTAGGTGTGCATTG	0.333000														14			4		0	0	0.000248	0	0
REXO1	57455	broad.mit.edu	37	19	1818751	1818751	+	Silent	SNP	G	C	C	rs148578959	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1818751G>C	uc002lua.4	-	8	2951	c.2856C>G	c.(2854-2856)ccC>ccG	p.P952P	REXO1_uc010dsq.3_Silent_p.P261P|REXO1_uc010xgs.1_5'UTR|REXO1_uc021umm.1_5'Flank|REXO1_uc010dsp.1_Non-coding_Transcript	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	952						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCGCCCCCGGGCCGCTCTG	0.662000														19			18		0	0	0.007413	0	0
PTPRN	5798	broad.mit.edu	37	2	220161810	220161810	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220161810C>T	uc002vkz.3	-	14	2374	c.2133G>A	c.(2131-2133)aaG>aaA	p.K711K	PTPRN_uc010zlc.2_Silent_p.K621K|PTPRN_uc002vla.3_Silent_p.K682K|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	711	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCTGCCACTCCTTGGCAAGGC	0.637000														46			29		0	0	0.003271	0	0
ZNF41	7592	broad.mit.edu	37	X	47308118	47308118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:47308118C>T	uc004dhs.4	-	3	1244	c.1177G>A	c.(1177-1179)Ggg>Agg	p.G393R	ZNF41_uc004dhu.4_Missense_Mutation_p.G385R|ZNF41_uc004dht.4_Missense_Mutation_p.G265R|ZNF41_uc004dhv.4_Missense_Mutation_p.G361R|ZNF41_uc004dhw.4_Missense_Mutation_p.G353R|ZNF41_uc004dhy.4_Missense_Mutation_p.G351R|ZNF41_uc004dhx.4_Missense_Mutation_p.G351R|ZNF41_uc011mlm.2_Missense_Mutation_p.G265R	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GGTTTCTGCCCGGTATGAATT	0.383000														25			25		0	0	0.003954	0	0
LRRC7	57554	broad.mit.edu	37	1	70478725	70478725	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:70478725G>A	uc001dep.3	+	10	1119	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	363						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCCTGAAGAGATTGGACAGA	0.323000														11			8		0	0	0.006214	0	0
ZNF396	252884	broad.mit.edu	37	18	32949371	32949371	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:32949371G>A	uc010xcf.1	-	3	948	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	Homo sapiens zinc finger protein 396 (ZNF396), mRNA.	272					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTCCACTGTGGATTCTCTGAT	0.428000														47			75		0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	38937178	38937178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38937178C>T	uc002oit.3	+	7	828	c.698C>T	c.(697-699)tCc>tTc	p.S233F	RYR1_uc002oiu.3_Missense_Mutation_p.S233F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	233	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGACCATTTCCCCTGCTGAC	0.587000														67			20		0	0	0.001882	0	0
OLAH	55301	broad.mit.edu	37	10	15107724	15107724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:15107724G>A	uc001int.2	+	6	957	c.703G>A	c.(703-705)Gca>Aca	p.A235T	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.A182T	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	182					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CATCATAAGGGCAGATCTGAA	0.363000														3			17		0	0	0.007413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503286	110503286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:110503286G>A	uc003yne.3	+	60	10174	c.10070G>A	c.(10069-10071)gGa>gAa	p.G3357E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3357					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGACAGATGGATTGGACATA	0.388000										HNSCC(38;0.096)				93			25		0	0	0.001512	0	0
ANGPT1	284	broad.mit.edu	37	8	108359256	108359256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:108359256G>A	uc003ymn.3	-	1	835	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	ANGPT1_uc003ymo.3_Missense_Mutation_p.H123Y	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	123					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTAGCCGTGTGGTTCTGAACT	0.483000														35			9		0	0	0.006214	0	0
KIF2B	84643	broad.mit.edu	37	17	51901924	51901924	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:51901924G>A	uc002iua.2	+	0	1686	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	510					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.G509G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTATAGGCCAGAACTCCTCCA	0.458000														51			13		0	0	0.001368	0	0
ZNF774	342132	broad.mit.edu	37	15	90902176	90902176	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:90902176G>A	uc002bpk.4	+	2	384	c.198G>A	c.(196-198)agG>agA	p.R66R		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATCCCGAGGGAAAGCCACA	0.478000														31			18		0	0	0.004990	0	0
WASL	8976	broad.mit.edu	37	7	123334870	123334870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:123334870G>A	uc003vkz.3	-	7	1053	c.725C>T	c.(724-726)tCa>tTa	p.S242L		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	242				S -> L (in Ref. 1; BAA20128).	actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGTGCCTCTGAGATTCCACA	0.318000														410			82		0	0	0.003610	0	0
FPR1	2357	broad.mit.edu	37	19	52249678	52249678	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:52249678C>T	uc021uyn.1	-	2	716	c.570G>A	c.(568-570)agG>agA	p.R190R	FPR1_uc002pxq.3_Silent_p.R190R|FPR1_uc021uyo.1_Silent_p.R190R	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	190			R -> W (in dbSNP:rs5030880).		G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R190W(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCACATTTATCCTCTCTTTAG	0.498000														25			9		0	0	0.004482	0	0
BRCA2	675	broad.mit.edu	37	13	32945213	32945213	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:32945213C>T	uc001uub.1	+	19	8835	c.8608C>T	c.(8608-8610)Cag>Tag	p.Q2870*		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2870					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CACTAAAATTCAGGAGGAATT	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				21			20		0	0	0.001523	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594692	61594692	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:61594692G>A	uc002yea.4	+	5	880	c.696G>A	c.(694-696)tgG>tgA	p.W232*	SLC17A9_uc002ydz.4_Nonsense_Mutation_p.W226*|SLC17A9_uc011aap.1_Nonsense_Mutation_p.W252*	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	232					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGTCCCCTGGAGACGGCTCT	0.637000														46			11		0	0	0.001368	0	0
SORD	6652	broad.mit.edu	37	15	45353347	45353347	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:45353347C>T	uc001zul.4	+	3	528	c.348C>T	c.(346-348)tcC>tcT	p.S116S	SORD_uc010uel.2_Intron|SORD_uc010bdz.3_Silent_p.S37S	NM_003104	NP_003095	Q00796	DHSO_HUMAN	Homo sapiens sorbitol dehydrogenase (SORD), transcript variant 1, mRNA.	116					L-xylitol catabolic process|fructose biosynthetic process|glucose metabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TGTCACCTTCCATCTTCTTCT	0.517000														80			21		0	0	0.002299	0	0
CSNK2B	1460	broad.mit.edu	37	6	31636404	31636404	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31636404C>T	uc003nvr.1	+	3	604	c.264C>T	c.(262-264)atC>atT	p.I88I	GPANK1_uc021yuu.1_5'Flank|GPANK1_uc003nvo.4_5'Flank|GPANK1_uc003nvp.4_5'Flank|GPANK1_uc003nvq.3_5'Flank|CSNK2B_uc010jta.1_3'UTR|CSNK2B_uc021yuv.1_Silent_p.I88I|LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	88					Wnt receptor signaling pathway|adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CCCGCTACATCCTTACCAACC	0.537000														185			108		0	0	0.003610	0	0
PSG4	5672	broad.mit.edu	37	19	43709684	43709684	+	Missense_Mutation	SNP	C	T	T	rs111836776		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:43709684C>T	uc002ovy.3	-	0	107	c.5G>A	c.(4-6)gGg>gAg	p.G2E	PSG4_uc002ovz.3_Missense_Mutation_p.G2E|PSG4_uc002owb.3_Missense_Mutation_p.G2E	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	2					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGAGAGGGGCCCCATGGTCTC	0.592000														34			20		0	0	0.002445	0	0
TLR5	7100	broad.mit.edu	37	1	223285357	223285357	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:223285357T>C	uc021pjl.1	-	0	1017	c.1017A>G	c.(1015-1017)caA>caG	p.Q339Q	TLR5_uc001hnv.2_Silent_p.Q339Q|TLR5_uc001hnw.2_Silent_p.Q339Q	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	339					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AATTGAGAACTTGGAGGTTGT	0.383000														84			75		0	0	0.003610	0	0
CLCF1	23529	broad.mit.edu	37	11	67134991	67134991	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:67134991C>T	uc001okq.3	-	1	319	c.123G>A	c.(121-123)caG>caA	p.Q41Q	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.2_Silent_p.Q31Q	NM_013246	NP_001159684	Q9UBD9	CLCF1_HUMAN	Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA.	41					B cell differentiation|JAK-STAT cascade|cytokine-mediated signaling pathway|negative regulation of neuron apoptosis|positive regulation of B cell proliferation|positive regulation of astrocyte differentiation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CATAGGTTTTCTGGATGGAGG	0.617000														67			20		0	0	0.002299	0	0
NLRP3	114548	broad.mit.edu	37	1	247588813	247588813	+	Missense_Mutation	SNP	G	A	A	rs104895414		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:247588813G>A	uc001icr.3	+	4	2206	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	NLRP3_uc001ics.3_Missense_Mutation_p.E690K|NLRP3_uc001icu.3_Missense_Mutation_p.E690K|NLRP3_uc001icw.3_Missense_Mutation_p.E690K|NLRP3_uc001icv.3_Missense_Mutation_p.E690K|NLRP3_uc010pyw.2_Missense_Mutation_p.E688K|NLRP3_uc001ict.1_Missense_Mutation_p.E688K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	690	Poly-Glu.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATGCCCAAGGAGGAAGAGGA	0.517000														50			10		0	0	0.000978	0	0
RNASET2	8635	broad.mit.edu	37	6	167352427	167352427	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:167352427G>A	uc003qve.3	-	5	809	c.402C>T	c.(400-402)taC>taT	p.Y134Y	RNASET2_uc003qvf.3_Silent_p.Y42Y|RNASET2_uc003qvi.1_Missense_Mutation_p.T22I	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	134					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTCTGCCAAAGTACTTCTTCT	0.572000														13			59		0	0	0.003610	0	0
OR1S1	219959	broad.mit.edu	37	11	57982808	57982808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57982808C>T	uc010rkc.2	+	0	592	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GGCCCCTCTGCTCAAACTGTC	0.418000														8			45		0	0	0.003610	0	0
DLEC1	9940	broad.mit.edu	37	3	38149937	38149937	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38149937C>T	uc003chp.1	+	20	3081	c.3060C>T	c.(3058-3060)tcC>tcT	p.S1020S	DLEC1_uc003cho.1_Silent_p.S1020S|DLEC1_uc010hgv.1_Silent_p.S1020S|DLEC1_uc003chr.1_Silent_p.S126S|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1020					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGACAGTCTCCCCCAAACATG	0.552000														26			5		0	0	0.001168	0	0
NMUR2	56923	broad.mit.edu	37	5	151771997	151771998	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:151771997_151771998GG>AA	uc003luv.2	-	3	1168_1169	c.1002_1003CC>TT	c.(1000-1005)ttccag>ttTTag	p.Q335*		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	335					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AATGCTGCCTGGAAGCGGCGAG	0.500000														26			37		0	0	0.004672	0	0
KCNB2	9312	broad.mit.edu	37	8	73850136	73850136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:73850136G>A	uc003xzb.3	+	2	3134	c.2546G>A	c.(2545-2547)gGc>gAc	p.G849D		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	849					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.G849fs*14(2)		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)			AGAGAAGAGGGCAGTGTGGGC	0.522000														34			13		0	0	0.002450	0	0
RFTN1	23180	broad.mit.edu	37	3	16364959	16364959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:16364959C>T	uc003cay.3	-	8	1538	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	RFTN1_uc010hes.3_Missense_Mutation_p.G383E|OXNAD1_uc003cax.3_Intron|OXNAD1_uc011awb.2_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	419						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGATACACTCCCCTCGCTGTA	0.453000														24			8		0	0	0.004482	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575477	44575477	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44575477G>A	uc003tlb.3	-	4	2001	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L	NPC1L1_uc011kbw.2_Silent_p.L649L|NPC1L1_uc003tlc.3_Silent_p.L649L|NPC1L1_uc003tld.3_Silent_p.L649L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	649	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCCAGGGCCAGAGAGATGTAC	0.567000														66			29		0	0	0.002445	0	0
LRRC43	254050	broad.mit.edu	37	12	122674873	122674873	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:122674873C>A	uc009zxm.3	+	4	884	c.859C>A	c.(859-861)Ccc>Acc	p.P287T	LRRC43_uc001ubw.4_Missense_Mutation_p.P102T|LRRC43_uc009zxn.3_Missense_Mutation_p.P48T	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	287	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CACCGTGTCTCCCAATGAGAA	0.652000														51			31		5.45727e-16	1.04254e-15	0.001512	1	0
KANSL3	55683	broad.mit.edu	37	2	97268003	97268003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:97268003G>A	uc002swn.4	-	18	2478	c.2332C>T	c.(2332-2334)Cgt>Tgt	p.R778C	KANSL3_uc002swh.4_Missense_Mutation_p.R664C|KANSL3_uc002swi.4_Missense_Mutation_p.R705C|KANSL3_uc002swj.4_Intron|KANSL3_uc002swk.4_Missense_Mutation_p.R691C|KANSL3_uc010fhz.3_Missense_Mutation_p.R598C|KANSL3_uc002swl.4_Missense_Mutation_p.R677C|KANSL3_uc002swm.4_Intron|KANSL3_uc010yur.2_Missense_Mutation_p.R572C|KANSL3_uc002swo.3_Missense_Mutation_p.R126C	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	804																	GGAATGGTACGGACAATGGTG	0.622000														9			10		0	0	0.000673	0	0
FCGBP	8857	broad.mit.edu	37	19	40354435	40354435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40354435C>T	uc002omp.4	-	34	16042	c.16034G>A	c.(16033-16035)gGg>gAg	p.G5345E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5345	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACCTGGACCCCTGCCTTCTG	0.572000														14			7		0	0	0.003080	0	0
Mir_422	0	broad.mit.edu	37	15	64163137	64163137	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:64163137G>A	uc021sov.1	-	0		c.82C>T								Rfam model RF01030 hit found at contig region AC015914.8/92261-92350																		gcccagggaggacaaagcttg	0.582000														23			30		0	0	0.001512	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756831	94756831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94756831G>A	uc001yct.3	-	1	566	c.100C>T	c.(100-102)Cct>Tct	p.P34S	SERPINA10_uc001ycu.4_Missense_Mutation_p.P34S	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	34					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A33V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGTTCTGAGGGGCTGGGGTC	0.627000														17			11		0	0	0.001368	0	0
CHST7	56548	broad.mit.edu	37	X	46434747	46434747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:46434747C>T	uc022bvm.1	+	0	1381	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	CHST7_uc004dgt.3_Missense_Mutation_p.R461C	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 (CHST7), mRNA.	461					N-acetylglucosamine metabolic process|chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity|chondroitin 6-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						CGCCTACCCTCGCAGCGGAGA	0.741000														9			19		0	0	0.002780	0	0
FLNA	2316	broad.mit.edu	37	X	153588743	153588743	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153588743G>A	uc004fkk.2	-	21	3669	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.F1140F	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1140					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTGTCAGCGAAGAGGATGT	0.617000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		52			48		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113303903	113303903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:113303903C>T	uc003ynu.3	-	55	8969	c.8810G>A	c.(8809-8811)gGa>gAa	p.G2937E	CSMD3_uc003yns.3_Missense_Mutation_p.G2139E|CSMD3_uc003ynt.3_Missense_Mutation_p.G2897E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2768E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2937	Sushi 20.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCTGGAATTCCAGGATCAGA	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				77			28		0	0	0.006230	0	0
LILRB2	10288	broad.mit.edu	37	19	54782682	54782682	+	Missense_Mutation	SNP	C	T	T	rs41308752	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54782682C>T	uc002qfb.3	-	5	1206	c.940G>A	c.(940-942)Gac>Aac	p.D314N	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.D314N|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.D314N|LILRB2_uc010yet.2_Missense_Mutation_p.D198N|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	314	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCAGGATGTCCAGGGGGTCG	0.637000														34			7		0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196837181	196837181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:196837181G>A	uc002utj.4	-	15	1944	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	615	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCACTTTCTGAATGTAAGCC	0.413000														5			13		0	0	0.001368	0	0
MAGI3	260425	broad.mit.edu	37	1	114184909	114184909	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:114184909C>T	uc001edk.3	+	9	1918	c.1737C>T	c.(1735-1737)atC>atT	p.I579I	MAGI3_uc001edh.3_Silent_p.I604I|MAGI3_uc001edi.4_Silent_p.I579I|MAGI3_uc010owm.2_Silent_p.I604I|MAGI3_uc001edj.3_Silent_p.I300I	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	604					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGTGACTATCCCTTTGATTA	0.493000														3			32		0	0	0.003271	0	0
VENTX	27287	broad.mit.edu	37	10	135053763	135053763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:135053763G>A	uc010quy.1	+	2	741	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	244					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCTGTCCACGGGGCCCCGGGG	0.687000														12			6		0	0	0.003080	0	0
DNMT1	1786	broad.mit.edu	37	19	10248603	10248603	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10248603G>A	uc002mng.3	-	34	4330	c.4150C>T	c.(4150-4152)Ctg>Ttg	p.L1384L	DNMT1_uc002mnf.3_Silent_p.L308L|DNMT1_uc010xlc.2_Silent_p.L1400L|DNMT1_uc002mnh.3_Silent_p.L1279L|DNMT1_uc010xld.2_Silent_p.L1384L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1384	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGATCTCCAGTGCCGAGGCT	0.617000														20			20		0	0	0.002299	0	0
KRT71	112802	broad.mit.edu	37	12	52940080	52940080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:52940080C>T	uc001sao.3	-	6	1385	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	439	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTGCACTCCTCGCTCTCCAGT	0.612000														43			13		0	0	0.002450	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530321	5530321	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5530321G>A	uc021qcw.1	-	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Silent_p.S156S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	156										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGCATCAGGGAGCTTGGCT	0.587000														6			4		0	0	0.000248	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389333	140389333	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140389333C>T	uc003lii.3	+	3	3440	c.2835C>T	c.(2833-2835)ttC>ttT	p.F945F	PCDHAC2_uc003lha.2_Silent_p.F624F|PCDHAC2_uc003lhb.2_Silent_p.F888F|PCDHAC2_uc003lhd.2_Silent_p.F886F|PCDHAC2_uc003lhf.2_Silent_p.F888F|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Silent_p.F885F|PCDHAC2_uc003lhl.2_Silent_p.F874F|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Silent_p.F888F|PCDHAC2_uc003lhn.2_Silent_p.F624F|PCDHAC2_uc003lhq.2_Silent_p.F875F|PCDHAC2_uc003lhs.2_Silent_p.F888F|PCDHAC2_uc003lhu.2_Silent_p.F888F|PCDHAC2_uc003lhw.2_Silent_p.F623F|PCDHAC2_uc003lhx.2_Silent_p.F886F|PCDHAC2_uc003lia.2_Silent_p.F887F|PCDHAC2_uc003lic.2_Silent_p.F879F|PCDHAC2_uc003lif.2_Silent_p.F888F|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Silent_p.F901F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	945	4 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAAATTCATTATCCCAG	0.517000														45			20		0	0	0.001882	0	0
FAM178A	55719	broad.mit.edu	37	10	102684190	102684190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:102684190C>T	uc001krs.3	+	4	1974	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C	FAM178A_uc001krr.1_Missense_Mutation_p.R478C|FAM178A_uc001krt.4_Missense_Mutation_p.R478C|FAM178A_uc001kru.1_Missense_Mutation_p.R413C	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	478								p.R478S(1)									TTTACTTTCCCGTGTTCCAAG	0.383000														7			55		0	0	0.003610	0	0
ZNF514	84874	broad.mit.edu	37	2	95815370	95815370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:95815370G>A	uc002sud.1	-	4	1450	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	ZNF514_uc002sue.1_Missense_Mutation_p.P287L	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						ACATTTGTAGGGTTTCTCTCC	0.453000														10			17		0	0	0.004007	0	0
ADAM32	203102	broad.mit.edu	37	8	38994198	38994198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:38994198C>T	uc003xmt.4	+	2	406	c.161C>T	c.(160-162)cCa>cTa	p.P54L	ADAM32_uc011lch.2_Missense_Mutation_p.P61L|ADAM32_uc003xmu.4_Missense_Mutation_p.P54L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	54					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TATATTATTCCAATAGATGAG	0.269000														14			7		0	0	0.006214	0	0
KRT37	8688	broad.mit.edu	37	17	39578654	39578654	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39578654C>T	uc002hwp.1	-	3	812	c.765G>A	c.(763-765)gaG>gaA	p.E255E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	255	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCCGGAACTTCTCCCCCAGCT	0.562000														114			57		0	0	0.003610	0	0
ABHD12B	145447	broad.mit.edu	37	14	51347195	51347195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:51347195G>A	uc001wys.3	+	3	376	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ABHD12B_uc001wyr.3_Missense_Mutation_p.E44K|ABHD12B_uc001wyq.3_Missense_Mutation_p.E14K|ABHD12B_uc010any.3_Non-coding_Transcript	NM_001206673	NP_001193602	Q7Z5M8	AB12B_HUMAN	Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 1, mRNA.	121							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CTGCCGGGGGGAAGATGCCAA	0.498000														76			22		0	0	0.001882	0	0
SCYL1	57410	broad.mit.edu	37	11	65298129	65298129	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:65298129C>T	uc001oea.1	+	6	956	c.879C>T	c.(877-879)ttC>ttT	p.F293F	SCYL1_uc009yqk.3_Silent_p.F293F|SCYL1_uc001oeb.1_Silent_p.F293F|SCYL1_uc001oec.1_Silent_p.F293F|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	293	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AGCAAAAATTCTTCCAGGAGC	0.597000														49			22		0	0	0.002780	0	0
GLI2	2736	broad.mit.edu	37	2	121747440	121747440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:121747440C>T	uc010flp.3	+	12	3980	c.3950C>T	c.(3949-3951)cCa>cTa	p.P1317L	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.P989L|GLI2_uc002tmu.4_Missense_Mutation_p.P972L	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1317					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCACCTCACCCAGTCCAGAGC	0.657000														28			5		0	0	0.001984	0	0
ERN2	10595	broad.mit.edu	37	16	23713529	23713529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:23713529C>T	uc002dma.4	-	10	1460	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R	ERN2_uc010bxp.3_Missense_Mutation_p.G431R|ERN2_uc010bxq.1_Missense_Mutation_p.G239R	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	383					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCTGCAGTTCCACTCCCCAGG	0.622000														47			76		0	0	0.003610	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135801250	135801250	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:135801250A>G	uc003eqv.2	+	7	3392	c.2775A>G	c.(2773-2775)cgA>cgG	p.R925R	PPP2R3A_uc011blz.2_Silent_p.R189R|PPP2R3A_uc003eqw.2_Silent_p.R304R|PPP2R3A_uc011bma.1_Non-coding_Transcript	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	925					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	p.S924F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTGTCTCGATACAATGACC	0.358000														33			17		0	0	0.003330	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459497	107459497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:107459497C>T	uc002tdq.3	-	1	1056	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E313K|ST6GAL2_uc002tds.3_Missense_Mutation_p.E313K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	313					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTACCTATTTCCTCGCCCAAG	0.667000														19			14		0	0	0.004990	0	0
NAV1	89796	broad.mit.edu	37	1	201777278	201777278	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:201777278G>A	uc021phi.1	+	18	4192	c.3845_splice	c.e18+1	p.E1282_splice	NAV1_uc001gwu.3_Splice_Site_p.E1279_splice|NAV1_uc001gwx.3_Splice_Site_p.E888_splice|MIR1231_uc021phj.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1282					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ATGTCACCGAGTAAGTGCTCT	0.542000														88			28		0	0	0.001512	0	0
KIF26A	26153	broad.mit.edu	37	14	104639700	104639700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104639700G>A	uc001yos.4	+	8	1717	c.1717G>A	c.(1717-1719)Gcc>Acc	p.A573T		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	573	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCACCCACGGCCGAGAAGGC	0.687000														16			6		0	0	0.001168	0	0
SP140L	93349	broad.mit.edu	37	2	231235655	231235655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:231235655G>A	uc010fxm.1	+	5	647	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	SP140L_uc010fxn.2_Missense_Mutation_p.E99K|SP140L_uc010fxo.1_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	186						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGCAAGGAAGGAAAGTGACCA	0.562000														8			6		0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11603116	11603117	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11603116_11603117GG>AA	uc002gne.3	+	22	5009_5010	c.4941_4942GG>AA	c.(4939-4944)ggggaa>ggAAaa	p.E1648K	DNAH9_uc010coo.3_Missense_Mutation_p.E942K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1648	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)		ATGCCAGTGGGGAACCAACCAA	0.505000														16			11		0	0	0.004672	0	0
FEM1A	55527	broad.mit.edu	37	19	4793790	4793790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:4793790C>T	uc002mbf.3	+	0	2063	c.1924C>T	c.(1924-1926)Ctt>Ttt	p.L642F	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	642					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCTGCAGTGCCTTGCGGCCCG	0.597000														20			13		0	0	0.002450	0	0
PIM1	5292	broad.mit.edu	37	6	37140803	37140803	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:37140803C>T	uc003onk.3	+	4	1069	c.639C>T	c.(637-639)atC>atT	p.I213I	PIM1_uc011dtw.2_Missense_Mutation_p.S82F	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	304	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGAGTGGATCCGCTACCATC	0.517000			T	BCL6	NHL									65			22		0	0	0.003330	0	0
CEP290	80184	broad.mit.edu	37	12	88457856	88457856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:88457856C>T	uc001tar.3	-	44	6516	c.6172G>A	c.(6172-6174)Gaa>Aaa	p.E2058K	CEP290_uc001taq.3_Missense_Mutation_p.E1118K	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2058					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTCCTGTTCTCTCTGACAA	0.308000														4			3		0	0	0.004672	0	0
SELP	6403	broad.mit.edu	37	1	169578870	169578870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:169578870G>A	uc001ggi.4	-	7	1270	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	SELP_uc001ggh.3_Missense_Mutation_p.S237F|SELP_uc009wvr.3_Missense_Mutation_p.S402F	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	402	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGCTCTCAAGGATGGAGAGCA	0.498000														5			3		0	0	0.004672	0	0
CNKSR3	154043	broad.mit.edu	37	6	154587080	154587080	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:154587080A>C	uc021zhc.1	-	12	1893	c.1388T>G	c.(1387-1389)aTg>aGg	p.M463R	CNKSR3_uc003qpw.3_Missense_Mutation_p.M1R|CNKSR3_uc003qpx.3_Missense_Mutation_p.M1R|CNKSR3_uc010kjh.3_Missense_Mutation_p.M1R|CNKSR3_uc021zhd.1_Missense_Mutation_p.M45R|CNKSR3_uc021zhe.1_Missense_Mutation_p.M45R	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		p.R463W(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTATGATGTCATCTTAGTAGA	0.328000														104			75		0	0	0.003610	0	0
DSG1	1828	broad.mit.edu	37	18	28934674	28934674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:28934674G>A	uc002kwp.3	+	14	2727	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	DSG1_uc010xbp.2_Missense_Mutation_p.E198K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	839					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACTGTGACCGAGTCTTACAC	0.517000														92			43		0	0	0.003610	0	0
RECQL	5965	broad.mit.edu	37	12	21636377	21636377	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:21636377C>T	uc001rex.3	-	6	981	c.633G>A	c.(631-633)agG>agA	p.R211R	RECQL_uc001rey.3_Silent_p.R211R	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	211	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GAGTAAATCTCCTTGCTTCAT	0.358000								Other identified genes with known or suspected DNA repair function						15			7		0	0	0.003080	0	0
F2RL2	2151	broad.mit.edu	37	5	75914384	75914384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:75914384C>T	uc003kem.3	-	1	333	c.148G>A	c.(148-150)Gag>Aag	p.E50K	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.E28K	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	50					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAGGGGAACTCTTCAAAAGAA	0.428000														91			43		0	0	0.003610	0	0
NXPH4	11247	broad.mit.edu	37	12	57619154	57619155	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57619154_57619155GG>AA	uc010srf.2	+	1	726_727	c.551_552GG>AA	c.(550-552)ggg>gAA	p.G184E	NXPH4_uc009zpj.3_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	184	IV (linker domain).				neuropeptide signaling pathway	extracellular region		p.E183D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCCTGGAGGGGGTGCTTCCTG	0.748000														57			30		0	0	0.004672	0	0
DOCK4	9732	broad.mit.edu	37	7	111430624	111430624	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:111430624G>A	uc003vfy.3	-	31	3581	c.3312C>T	c.(3310-3312)ggC>ggT	p.G1104G	DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Silent_p.G509G|DOCK4_uc003vfx.3_Silent_p.G1068G	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1068	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTAGGAAGGGGCCAATCAGGG	0.398000														11			4		0	0	0.000248	0	0
PROM2	150696	broad.mit.edu	37	2	95940496	95940496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:95940496C>T	uc002suk.3	+	0	296	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PROM2_uc002suh.2_Missense_Mutation_p.R55C|PROM2_uc002sui.3_Missense_Mutation_p.R55C|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	55						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.V54V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTCGAGTTCGTGCGCCAGG	0.662000														126			51		0	0	0.003610	0	0
PLXNB3	5365	broad.mit.edu	37	X	153032758	153032758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153032758G>A	uc010nuk.2	+	3	816	c.545G>A	c.(544-546)gGt>gAt	p.G182D	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.G159D|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	159	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGACCCTGGTGACGGGCAG	0.701000														22			13		0	0	0.002450	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692245	31692245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:31692245C>T	uc002ynw.3	-	0	363	c.109G>A	c.(109-111)Gga>Aga	p.G37R		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	37						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGACATCTCCACAGCTCACG	0.567000														1			13		0	0	0.001368	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25171687	25171687	+	RNA	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:25171687A>G	uc001upm.3	+	12		c.1583A>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TCTGGGAAAGAATTAATGTTC	0.383000														6			3		0	0	0.000248	0	0
TMEM72	643236	broad.mit.edu	37	10	45430327	45430327	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:45430327G>A	uc001jbn.2	+	4	770	c.573G>A	c.(571-573)aaG>aaA	p.K191K	TMEM72-AS1_uc001jbk.1_Intron|TMEM72_uc009xmm.1_Silent_p.K73K	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	Homo sapiens transmembrane protein 72 (TMEM72), mRNA.	191						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GTATCCTGAAGGGGACTAAGA	0.602000														49			37		0	0	0.006230	0	0
OCRL	4952	broad.mit.edu	37	X	128710349	128710349	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:128710349C>T	uc004euq.3	+	17	2100	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	OCRL_uc004eur.3_Silent_p.I645I	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	645					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTGTAACCATCCTGAACTCGG	0.408000														22			10		0	0	0.006214	0	0
LRRC48	83450	broad.mit.edu	37	17	17880955	17880955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17880955G>A	uc021trj.1	+	3	422	c.43G>A	c.(43-45)Gat>Aat	p.D15N	LRRC48_uc010vxe.2_Missense_Mutation_p.D15N|LRRC48_uc021tri.1_Missense_Mutation_p.D15N|LRRC48_uc021trk.1_Missense_Mutation_p.D15N	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	15						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGTGATGGACGATGACATGCT	0.602000														61			24		0	0	0.004656	0	0
C15orf44	81556	broad.mit.edu	37	15	65871822	65871822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:65871822G>A	uc010uix.2	-	11	1977	c.1589C>T	c.(1588-1590)tCt>tTt	p.S530F	C15orf44_uc002apd.3_Missense_Mutation_p.S494F|C15orf44_uc010uja.2_Missense_Mutation_p.S476F|C15orf44_uc010ujb.2_Missense_Mutation_p.S437F|C15orf44_uc002ape.4_Missense_Mutation_p.S494F|C15orf44_uc010uiy.2_Missense_Mutation_p.S415F|C15orf44_uc010uiz.2_Missense_Mutation_p.S458F			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	494										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GGCATACTCAGAGGTGCCGGT	0.537000														30			24		0	0	0.006320	0	0
PCLO	27445	broad.mit.edu	37	7	82580555	82580555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82580555C>T	uc003uhx.2	-	5	9638	c.9349G>A	c.(9349-9351)Gat>Aat	p.D3117N	PCLO_uc003uhv.2_Missense_Mutation_p.D3117N|PCLO_uc010lec.3_Missense_Mutation_p.D82N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3048					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCAGACAAATCCCTCACTGTG	0.448000														15			4		0	0	0.000248	0	0
STOX1	219736	broad.mit.edu	37	10	70644837	70644837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:70644837C>T	uc001jos.2	+	2	1372	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	STOX1_uc001joq.3_Nonsense_Mutation_p.R319*|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Nonsense_Mutation_p.R319*	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	429						cytoplasm|nucleolus	DNA binding	p.R429R(2)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGGCCATTCTCGAAGGGATAG	0.512000														5			51		0	0	0.003610	0	0
FAM59A	64762	broad.mit.edu	37	18	29848634	29848634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:29848634G>A	uc002kxl.3	-	5	1887	c.1831C>T	c.(1831-1833)Ccg>Tcg	p.P611S	FAM59A_uc002kxk.2_Missense_Mutation_p.P610S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	611										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CTTCCAAACGGGGATTTCAGG	0.483000														19			5		0	0	0.000602	0	0
POTEA	340441	broad.mit.edu	37	8	43147879	43147879	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:43147879C>T	uc003xpz.1	+	0	295	c.252C>T	c.(250-252)atC>atT	p.I84I	POTEA_uc003xqa.1_Silent_p.I84I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	84										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGATCTCATCGTCATGCTCA	0.612000														56			11		0	0	0.001855	0	0
DNAH3	55567	broad.mit.edu	37	16	21031095	21031095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:21031095G>A	uc010vbe.2	-	40	5873	c.5873C>T	c.(5872-5874)tCc>tTc	p.S1958F		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1958					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACACCAAGGAAAAGAGAAA	0.468000														13			10		0	0	0.000978	0	0
MYOM2	9172	broad.mit.edu	37	8	2021502	2021502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:2021502G>A	uc003wpx.4	+	9	1180	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	348	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGCACAAGGACGACGAGGG	0.592000														83			28		0	0	0.001512	0	0
AFP	174	broad.mit.edu	37	4	74301934	74301934	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74301934C>T	uc003hgz.1	+	1	1	c.-46_splice	c.e1-1		AFP_uc003hgy.1_Intron	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.						transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCATGATTTTCCATATTGTGC	0.323000									Alpha-Fetoprotein, Hereditary Persistence of					10			10		0	0	0.000673	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443059	1443059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:1443059C>T	uc003jck.3	-	1	380	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	85					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.R85R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GTAGGGGAACCGCCAGACGTT	0.637000														44			48		0	0	0.003610	0	0
AEBP1	165	broad.mit.edu	37	7	44146364	44146364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44146364C>T	uc003tkb.3	+	1	778	c.473C>T	c.(472-474)cCc>cTc	p.P158L		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	158	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAGAAGCCACCCAAGGCCACC	0.647000														22			4		0	0	0.000248	0	0
THNSL2	55258	broad.mit.edu	37	2	88478512	88478512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:88478512G>A	uc002ssy.4	+	3	2473	c.782G>A	c.(781-783)gGg>gAg	p.G261E	THNSL2_uc002ssw.4_Missense_Mutation_p.G261E|THNSL2_uc002sta.4_Missense_Mutation_p.G103E|THNSL2_uc010fhe.3_Missense_Mutation_p.G103E|THNSL2_uc021vkr.1_Missense_Mutation_p.G261E	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	261					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GTGCCAACAGGGGCTGCCGGT	0.572000														71			39		0	0	0.007835	0	0
KRT32	3882	broad.mit.edu	37	17	39619158	39619158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39619158C>T	uc002hwr.3	-	5	1202	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	381	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TCCAGCAGCACCTGGTACTCC	0.642000														74			26		0	0	0.007291	0	0
KCNA6	3742	broad.mit.edu	37	12	4920418	4920418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:4920418C>T	uc001qng.3	+	0	2077	c.1211C>T	c.(1210-1212)tCg>tTg	p.S404L	KCNA6_uc021qtr.1_Missense_Mutation_p.S404L	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	404						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GATGACGATTCGCTTTTTCCC	0.567000										HNSCC(72;0.22)				43			79		0	0	0.003610	0	0
OTOF	9381	broad.mit.edu	37	2	26698339	26698339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:26698339G>A	uc002rhk.3	-	24	3141	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.P258L|OTOF_uc002rhi.3_Missense_Mutation_p.P315L|OTOF_uc002rhj.3_Missense_Mutation_p.P258L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1005	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCAGGTGGGACACAGGGT	0.557000														50			25		0	0	0.003330	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890988	32890988	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:32890988G>A	uc002edh.1	-	2	242	c.66C>T	c.(64-66)acC>acT	p.T22T	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		GCCAGAGCAGGGTGGTGCCAC	0.627000														29			17		0	0	0.007413	0	0
PAK7	57144	broad.mit.edu	37	20	9520183	9520183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9520183C>T	uc002wnl.2	-	10	2631	c.2086G>A	c.(2086-2088)Gga>Aga	p.G696R	PAK7_uc002wnk.2_Missense_Mutation_p.G696R|PAK7_uc002wnj.2_Missense_Mutation_p.G696R|PAK7_uc010gby.1_Missense_Mutation_p.G609R	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	696	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G696E(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AATGGATGTCCGAGGAGTTCC	0.512000														42			41		0	0	0.002852	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251426	25251426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:25251426G>A	uc002dod.4	-	6	3022	c.2615C>T	c.(2614-2616)tCt>tTt	p.S872F	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.S668F	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	872					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCTGAAATGAGAACTGTTGGT	0.448000														25			13		0	0	0.002450	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55304353	55304353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:55304353C>T	uc003pcn.3	-	8	1049	c.890G>A	c.(889-891)gGa>gAa	p.G297E	HMGCLL1_uc011dxe.2_Missense_Mutation_p.G101E|HMGCLL1_uc003pco.3_Missense_Mutation_p.G267E|HMGCLL1_uc010jzx.3_Missense_Mutation_p.G168E|HMGCLL1_uc011dxc.2_Missense_Mutation_p.G235E|HMGCLL1_uc011dxd.2_Missense_Mutation_p.G164E	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	297							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACATTAATTCCCATCTGGAA	0.398000														5			4		0	0	0.001168	0	0
CA2	760	broad.mit.edu	37	8	86385933	86385933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:86385933G>A	uc003ydk.2	+	2	424	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	82					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCTCAAGGGAGGACCCCTGGA	0.353000														31			17		0	0	0.004990	0	0
CPNE5	57699	broad.mit.edu	37	6	36716035	36716035	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:36716035G>A	uc003omr.1	-	14	1048	c.981C>T	c.(979-981)atC>atT	p.I327I	CPNE5_uc003omp.1_Silent_p.I35I|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	327										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGTGAAGTTGATCTGGGTCC	0.582000														73			41		0	0	0.002852	0	0
RPGR	6103	broad.mit.edu	37	X	38156589	38156589	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:38156589G>A	uc004ded.1	-	10	1530	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	RPGR_uc004deb.3_Silent_p.N454N|RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript|RPGR_uc004dee.1_Silent_p.N139N	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	454					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCTCTTGGAGGTTTCTCTCAG	0.443000														15			12		0	0	0.003163	0	0
RPL7L1	285855	broad.mit.edu	37	6	42853737	42853737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:42853737G>A	uc003osq.1	+	4	453	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	RPL7L1_uc010jxw.1_Missense_Mutation_p.E21K|RPL7L1_uc003osr.1_Missense_Mutation_p.E21K|RPL7L1_uc011duy.1_Intron|RPL7L1_uc003ost.3_Missense_Mutation_p.E150K|RPL7L1_uc003oss.2_Missense_Mutation_p.E21K|DQ581019_uc003osv.3_5'Flank	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	Homo sapiens ribosomal protein L7-like 1 (RPL7L1), mRNA.	150					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			GTCTGTCCGAGAACTCATTTT	0.473000														38			11		0	0	0.000978	0	0
SCN1A	6323	broad.mit.edu	37	2	166897763	166897763	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:166897763T>A	uc002udo.4	-	14	2620	c.2393A>T	c.(2392-2394)aAt>aTt	p.N798I	SCN1A_uc010fpk.3_Missense_Mutation_p.N770I|SCN1A_uc021vsb.1_Missense_Mutation_p.N787I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTAAGCACATTATTGAAATG	0.368000														41			15		0	0	0.002450	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80199538	80199538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:80199538G>A	uc001syz.3	-	13	2101	c.1834C>T	c.(1834-1836)Cgt>Tgt	p.R612C	PPP1R12A_uc010suc.2_Missense_Mutation_p.R525C|PPP1R12A_uc001sza.3_Missense_Mutation_p.R556C|PPP1R12A_uc010sud.2_Missense_Mutation_p.R612C|PPP1R12A_uc001szb.3_Missense_Mutation_p.R612C|PPP1R12A_uc001szc.2_Intron	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	612	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity	p.R612C(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCCCACAAACGATTTGAGGTA	0.413000														2			3		0	0	0.000248	0	0
NLRP1	22861	broad.mit.edu	37	17	5433988	5433988	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:5433988G>A	uc002gci.3	-	11	3888	c.3333C>T	c.(3331-3333)ccC>ccT	p.P1111P	NLRP1_uc002gcg.1_Silent_p.P1115P|NLRP1_uc002gch.4_Silent_p.P1111P|NLRP1_uc002gck.3_Silent_p.P1111P|NLRP1_uc002gcj.3_Silent_p.P1081P|NLRP1_uc002gcl.3_Silent_p.P1081P|NLRP1_uc010clh.3_Silent_p.P1111P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1111					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)				GACCCGTGTTGGGCCAGCGGT	0.552000														30			13		0	0	0.003163	0	0
C1orf114	57821	broad.mit.edu	37	1	169391224	169391224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:169391224C>T	uc001gga.1	-	2	613	c.445G>A	c.(445-447)Gag>Aag	p.E149K	C1orf114_uc001gfz.1_Missense_Mutation_p.E149K|C1orf114_uc009wvq.1_Missense_Mutation_p.E149K|C1orf114_uc001ggb.3_Missense_Mutation_p.E149K|C1orf114_uc001ggc.1_Missense_Mutation_p.E149K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	149										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					AGTTTTCGCTCCCTTTTATCA	0.358000														68			27		0	0	0.002096	0	0
LRBA	987	broad.mit.edu	37	4	151835476	151835476	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:151835476G>A	uc010ipj.3	-	8	1276	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	LRBA_uc003ilu.4_Silent_p.F344F|LRBA_uc010ipk.1_Silent_p.F263F	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	344						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding	p.F344V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATGAGCCCAGGAAACATTTGT	0.318000														16			11		0	0	0.001368	0	0
RBM27	54439	broad.mit.edu	37	5	145616976	145616976	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:145616976C>T	uc003lnz.4	+	7	1426	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	RBM27_uc003lny.2_Silent_p.L420L	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	420					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGAACCTCCTTTACACAG	0.418000														53			25		0	0	0.005443	0	0
ZNF10	7556	broad.mit.edu	37	12	133732562	133732562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:133732562G>A	uc009zzb.3	+	4	1177	c.730G>A	c.(730-732)Gac>Aac	p.D244N	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.D244N	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	244				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTGATAATGACAACTCTCT	0.378000														13			5		0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776537	77776537	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:77776537C>T	uc003yau.2	+	10	10974	c.10587C>T	c.(10585-10587)atC>atT	p.I3529I		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3480	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S3528S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCCTAATATCCTTTTCCAAG	0.498000										HNSCC(33;0.089)				12			8		0	0	0.004482	0	0
KTN1	3895	broad.mit.edu	37	14	56107904	56107904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:56107904C>T	uc001xcb.3	+	17	2383	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	KTN1_uc001xcc.3_Missense_Mutation_p.S694L|KTN1_uc001xcd.3_Missense_Mutation_p.S694L|KTN1_uc001xce.3_Missense_Mutation_p.S694L|KTN1_uc010trb.2_Missense_Mutation_p.S694L|KTN1_uc001xcf.1_Missense_Mutation_p.S694L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	694					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CATGAAATTTCAAACAAAATG	0.299000			T	RET	papillary thryoid									18			8		0	0	0.000673	0	0
OR1I1	126370	broad.mit.edu	37	19	15198154	15198154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15198154C>T	uc010xoe.2	+	0	278	c.278C>T	c.(277-279)cCc>cTc	p.P93L		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						AGAGCCATCCCCTTTGTGGGC	0.547000														30			28		0	0	0.002445	0	0
POM121	9883	broad.mit.edu	37	7	72396946	72396946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:72396946C>T	uc003twk.2	+	1	791	c.791C>T	c.(790-792)tCc>tTc	p.S264F	POM121_uc003twj.3_5'UTR|POM121_uc010lam.1_5'UTR	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	264	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCTCGCAACTCCAGGATGGTG	0.537000														45			12		0	0	0.004007	0	0
C5AR1	728	broad.mit.edu	37	19	47823980	47823980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:47823980C>T	uc002pgj.1	+	1	995	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	316					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.L315I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GAAATCCCTCCCCAGCCTCCT	0.597000														42			76		0	0	0.003610	0	0
TPST2	8459	broad.mit.edu	37	22	26932425	26932425	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:26932425G>A	uc003acw.3	-	3	1211	c.870C>T	c.(868-870)atC>atT	p.I290I	TPST2_uc003acx.3_Silent_p.I290I	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	290					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TAACAGGCTTGATGACCTGGT	0.642000														29			9		0	0	0.004482	0	0
DSC3	1825	broad.mit.edu	37	18	28609493	28609493	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:28609493G>A	uc002kwj.4	-	3	611	c.456C>T	c.(454-456)ttC>ttT	p.F152F	DSC3_uc002kwi.4_Silent_p.F152F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	152	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAAACAATGGGAAAGGGCCCA	0.408000														46			20		0	0	0.001216	0	0
TTLL9	164395	broad.mit.edu	37	20	30475021	30475021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:30475021G>A	uc010gdx.1	+	2	345	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Nonsense_Mutation_p.W40*|TTLL9_uc010ztp.1_Intron	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	31					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGGCCATGGATTGTCAAAG	0.463000														33			17		0	0	0.007413	0	0
HNF1A	6927	broad.mit.edu	37	12	121416797	121416797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:121416797G>A	uc001tzg.3	+	0	249	c.226G>A	c.(226-228)Gac>Aac	p.D76N	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.D76N|HNF1A_uc001tzf.3_Missense_Mutation_p.D76N|HNF1A_uc010szn.2_Missense_Mutation_p.D76N|HNF1A_uc021rfa.1_Missense_Mutation_p.D76N|HNF1A_uc021rfb.1_Silent_p.T14T|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	76	Asp/Glu-rich (acidic; potential involvement with transcription).				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAGACGGACGACGATGGGGA	0.672000									Hepatic Adenoma, Familial Clustering of					231			110		0	0	0.003610	0	0
ATRNL1	26033	broad.mit.edu	37	10	117093905	117093905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:117093905C>T	uc001lcg.3	+	18	3537	c.3151C>T	c.(3151-3153)Cca>Tca	p.P1051S	ATRNL1_uc010qsm.2_Intron|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1051	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTATGGAGATCCAACCAATGG	0.383000														5			10		0	0	0.006214	0	0
BLK	640	broad.mit.edu	37	8	11414214	11414214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:11414214G>A	uc003wty.3	+	8	1401	c.820G>A	c.(820-822)Gga>Aga	p.G274R		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	274	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCTGAAGGAGGGAACCATGTC	0.557000														110			24		0	0	0.004656	0	0
HMCN1	83872	broad.mit.edu	37	1	185988821	185988821	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:185988821C>G	uc001grq.1	+	34	5848	c.5619C>G	c.(5617-5619)aaC>aaG	p.N1873K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1873	Ig-like C2-type 16.				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						CCCAAGGAAACCTTAAAGTAA	0.388000														5			11		0	0	0.001368	0	0
SLC4A10	57282	broad.mit.edu	37	2	162821594	162821594	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:162821594G>C	uc002ubx.4	+	22	3254	c.3070G>C	c.(3070-3072)Gac>Cac	p.D1024H	SLC4A10_uc010zcs.2_Missense_Mutation_p.D1005H|SLC4A10_uc002uby.4_Missense_Mutation_p.D994H	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1024					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGTTGATGGACTTGTTGTT	0.373000														25			13		0	0	0.001855	0	0
ZNF700	90592	broad.mit.edu	37	19	12058372	12058372	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:12058372C>T	uc010xme.2	+	3	479	c.288C>T	c.(286-288)aaC>aaT	p.N96N	ZNF700_uc002msu.3_Silent_p.N78N|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGTACCAAAACCCCAGAAGAA	0.333000														55			35		0	0	0.007835	0	0
ZFP82	284406	broad.mit.edu	37	19	36884835	36884835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:36884835C>T	uc002ody.1	-	4	642	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G136R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTGAAGTATCCTTCTTGAGG	0.388000														44			29		0	0	0.001786	0	0
F10	2159	broad.mit.edu	37	13	113798367	113798367	+	Silent	SNP	C	T	T	rs137995645	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113798367C>T	uc001vsx.3	+	5	762	c.705C>T	c.(703-705)atC>atT	p.I235I	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.I235I	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	235	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCAGGATCGTGGGAGGCC	0.622000														74			30		0	0	0.003271	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113517821	113517821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:113517821G>A	uc010ljy.1	-	3	3357	c.3326C>T	c.(3325-3327)tCc>tTc	p.S1109F		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1109					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCTTCCCAGGATAGCCAGGA	0.348000														20			5		0	0	0.001168	0	0
OR9A4	130075	broad.mit.edu	37	7	141618981	141618981	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141618981C>T	uc003vwu.1	+	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCCAGCTCTTCTTGTACCTTG	0.493000														61			41		0	0	0.002522	0	0
AFP	174	broad.mit.edu	37	4	74319483	74319483	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74319483T>C	uc003hgz.1	+	13	1700	c.1653_splice	c.e13-1	p.E551_splice	AFP_uc011cbg.1_Splice_Site_p.E325_splice	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	551	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAATCACAGGTTTCTCATTAA	0.388000									Alpha-Fetoprotein, Hereditary Persistence of					0			2		0	0	0.004672	0	0
RAB3IP	117177	broad.mit.edu	37	12	70188987	70188987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:70188987C>T	uc001svp.3	+	5	1246	c.799C>T	c.(799-801)Cct>Tct	p.P267S	RAB3IP_uc021rao.1_Missense_Mutation_p.P251S|RAB3IP_uc001svm.3_Missense_Mutation_p.P251S|RAB3IP_uc001svn.3_Missense_Mutation_p.P251S|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.P267S|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Missense_Mutation_p.P45S	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	267					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCAACATCACCTACGCAGGA	0.418000														29			10		0	0	0.000673	0	0
DNAH17	8632	broad.mit.edu	37	17	76446440	76446440	+	Missense_Mutation	SNP	C	T	T	rs143100405		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:76446440C>T	uc010dhp.2	-	67	11061	c.10936G>A	c.(10936-10938)Gaa>Aaa	p.E3646K	DNAH17_uc002jvq.3_5'Flank|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTCTCGCTTCGTTGATTTTA	0.512000														20			12		0	0	0.001855	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529221	24529221	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:24529221C>T	uc001wlj.2	+	22	2068	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	637										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGAGCGACATCTCCCAAGCCT	0.657000														120			39		0	0	0.002522	0	0
AK7	122481	broad.mit.edu	37	14	96953234	96953234	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:96953234G>A	uc001yfn.2	+	17	2019	c.1975_splice	c.e17-1	p.N659_splice		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	659	Glu-rich.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTCTATTTTAGAATAAACGAC	0.398000														21			14		0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82784410	82784410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82784410G>A	uc003uhx.2	-	1	1836	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	PCLO_uc003uhv.2_Missense_Mutation_p.P516L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	462	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCTTTGCTGGGCCAGGCTG	0.602000														211			197		0	0	0.003610	0	0
DLG5	9231	broad.mit.edu	37	10	79565488	79565488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:79565488G>A	uc001jzk.3	-	26	5169	c.5099C>T	c.(5098-5100)tCc>tTc	p.S1700F	DLG5_uc001jzi.3_Missense_Mutation_p.S455F|DLG5_uc001jzj.3_Missense_Mutation_p.S1115F|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1700					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCCGTCCTTGGACCCGCTGCG	0.537000														60			54		0	0	0.003610	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760976	62760976	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:62760976G>A	uc009yon.3	-	9	1570	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.L360L|SLC22A8_uc001nwo.3_Silent_p.L483L|SLC22A8_uc010rmm.2_Silent_p.L392L|SLC22A8_uc001nwp.2_Silent_p.L483L	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	483					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGCCCCCGAGGAGGGCGGTGA	0.597000														34			53		0	0	0.003610	0	0
SLIT3	6586	broad.mit.edu	37	5	168233571	168233571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:168233571G>A	uc010jjg.3	-	8	1235	c.815C>T	c.(814-816)tCc>tTc	p.S272F	SLIT3_uc003mab.3_Missense_Mutation_p.S272F|SLIT3_uc010jji.2_Missense_Mutation_p.S272F|SLIT3_uc003mac.1_Missense_Mutation_p.S69F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	272	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCATTGCAGGATGGGGGCTC	0.567000														10			13		0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	90144463	90144463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:90144463G>A	uc003kju.3	+	78	17125	c.17029G>A	c.(17029-17031)Gaa>Aaa	p.E5677K	GPR98_uc003kjt.3_Missense_Mutation_p.E3383K|GPR98_uc003kjw.3_Missense_Mutation_p.E1338K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5677					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATAACTACTGAAGGAAAAAT	0.308000														6			6		0	0	0.001168	0	0
BCR	613	broad.mit.edu	37	22	23656898	23656898	+	Silent	SNP	C	T	T	rs56081881		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:23656898C>T	uc002zww.3	+	21	4319	c.3723C>T	c.(3721-3723)tcC>tcT	p.S1241S	BCR_uc002zwx.3_Silent_p.S1197S|BCR_uc011aiy.2_Silent_p.S830S	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1241	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.S1241F(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AGGTCATGTCCCAGGTATGGG	0.622000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									34			4		0	0	0.000248	0	0
ACTG1	71	broad.mit.edu	37	17	79478941	79478941	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79478941C>T	uc002kak.2	-	2	609	c.351G>A	c.(349-351)gaG>gaA	p.E117E	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Silent_p.E117E|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	117					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GAGTCATCTTCTCTCTGTTGG	0.592000														59			25		0	0	0.003954	0	0
THEMIS	387357	broad.mit.edu	37	6	128134836	128134836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:128134836C>T	uc011ebt.2	-	3	1099	c.950G>A	c.(949-951)aGa>aAa	p.R317K	THEMIS_uc010kfa.3_Missense_Mutation_p.R220K|THEMIS_uc021zfa.1_Missense_Mutation_p.R317K|THEMIS_uc010kfb.3_Missense_Mutation_p.R282K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	317	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGCTAAGATTCTTGATGCCTG	0.448000														14			14		0	0	0.003163	0	0
ADCY10	55811	broad.mit.edu	37	1	167798538	167798538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:167798538C>T	uc001ger.3	-	25	4015	c.3717G>A	c.(3715-3717)atG>atA	p.M1239I	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.M1086I|ADCY10_uc009wvk.3_Missense_Mutation_p.M1147I	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1239					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGCAGTATTCATTTGCATCA	0.413000														46			44		0	0	0.002222	0	0
TBCCD1	55171	broad.mit.edu	37	3	186276299	186276300	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186276299_186276300GG>AA	uc003fqg.3	-	2	527_528	c.398_399CC>TT	c.(397-399)tcc>tTT	p.S133F	TBCCD1_uc011bry.2_Missense_Mutation_p.S133F|TBCCD1_uc003fqh.3_Missense_Mutation_p.S37F	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	133					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		ATGTCCTTAGGGAGACCTTGTT	0.401000														67			27		0	0	0.004672	0	0
PIBF1	10464	broad.mit.edu	37	13	73372048	73372048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:73372048C>T	uc001vjc.3	+	4	861	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.R186C|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	186						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTTCAAGGTTCGCTTCTATGA	0.274000														48			23		0	0	0.003954	0	0
OR1J4	26219	broad.mit.edu	37	9	125282099	125282099	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125282099A>C	uc011lyw.2	+	0	680	c.680A>C	c.(679-681)aAg>aCg	p.K227T		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ACCATCCTCAAGGCTCCATCT	0.453000														50			26		0	0	0.006320	0	0
FMO5	2330	broad.mit.edu	37	1	146658773	146658773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:146658773C>T	uc001epi.2	-	8	1697	c.1308G>A	c.(1306-1308)atG>atA	p.M436I	FMO5_uc001eph.4_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	436						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CAAGCTCTTCCATGGTATCTA	0.488000														35			16		0	0	0.003163	0	0
HTR3C	170572	broad.mit.edu	37	3	183777411	183777411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:183777411G>A	uc003fmk.3	+	6	942	c.908G>A	c.(907-909)aGt>aAt	p.S303N		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	303						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCCCTGCCAGTGGCACCCCC	0.587000														64			29		0	0	0.002836	0	0
NADSYN1	55191	broad.mit.edu	37	11	71189504	71189504	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:71189504C>T	uc001oqn.3	+	9	988	c.862C>T	c.(862-864)Cga>Tga	p.R288*	NADSYN1_uc001oqo.3_Nonsense_Mutation_p.R28*|NADSYN1_uc001oqp.3_5'Flank	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	288	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATTTCATCTCGAAACCTGGC	0.577000														23			5		0	0	0.001168	0	0
ULBP3	79465	broad.mit.edu	37	6	150385785	150385786	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:150385785_150385786CC>GT	uc003qns.3	-	3	773_774	c.692_693GG>AC	c.(691-693)tgg>tAC	p.W231Y	ULBP3_uc011eej.1_Missense_Mutation_p.W106Y	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	231					antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity	p.W231L(2)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TGAGGAAGCTCCAGGGACTGAG	0.530000														7			71		0	0	0.004672	0	0
OTOA	146183	broad.mit.edu	37	16	21709178	21709178	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:21709178G>A	uc002djh.3	+	8	823	c.822G>A	c.(820-822)acG>acA	p.T274T	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.T195T	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	274					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGAAATTACGAAAATTAGTC	0.358000														29			14		0	0	0.004990	0	0
UMODL1	89766	broad.mit.edu	37	21	43504234	43504234	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:43504234C>T	uc002zag.1	+	2	360	c.360C>T	c.(358-360)gcC>gcT	p.A120A	UMODL1_uc002zad.1_Silent_p.A48A|UMODL1_uc002zae.1_Silent_p.A48A|UMODL1_uc002zaf.1_Silent_p.A120A|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	120	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GACCTGGGGCCTGCCCCGCAG	0.562000														128			95		0	0	0.003610	0	0
SRRM2	23524	broad.mit.edu	37	16	2813460	2813460	+	Silent	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:2813460C>A	uc002crk.3	+	10	3480	c.2931C>A	c.(2929-2931)acC>acA	p.T977T	SRRM2_uc002crj.1_Silent_p.T881T|SRRM2_uc002crl.1_Silent_p.T977T|SRRM2_uc010bsu.1_Silent_p.T881T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	977	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCAGATACCAAAGTGAAAC	0.498000														190			8		0.00448238	0.00844099	0.004482	1	0
BECN1	8678	broad.mit.edu	37	17	40966012	40966012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40966012G>A	uc002ibo.3	-	9	1130	c.995C>T	c.(994-996)cCt>cTt	p.P332L	BECN1_uc010whb.1_Missense_Mutation_p.P245L|BECN1_uc010whc.1_Missense_Mutation_p.P256L|BECN1_uc002ibn.2_Missense_Mutation_p.P332L	NM_003766	NP_003757	Q14457	BECN1_HUMAN	Homo sapiens beclin 1, autophagy related (BECN1), mRNA.	332					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GTTTCCGTAAGGAACAAGTCG	0.388000														55			26		0	0	0.001786	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567496	140567496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140567496C>T	uc003liw.1	+	0	604	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	202	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACTGGATCGGGAGGAGCA	0.483000														166			68		0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79027241	79027241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:79027241G>A	uc003kgc.3	+	1	2725	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	885						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTATCAGACGAAGAGGCAGT	0.483000														11			8		0	0	0.004482	0	0
HYDIN	54768	broad.mit.edu	37	16	70954829	70954829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:70954829G>A	uc002ezr.3	-	45	7598	c.7447C>T	c.(7447-7449)Cct>Tct	p.P2483S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2484								p.P2483S(1)|p.P114S(1)|p.P2435S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATCCCTGCAGGAGGCAGCTGG	0.617000														16			10		0	0	0.001368	0	0
LRP1	4035	broad.mit.edu	37	12	57601895	57601896	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57601895_57601896CC>TT	uc001snd.3	+	76	12400_12401	c.11934_11935CC>TT	c.(11932-11937)ggccga>ggTTga	p.R3979*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3979					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGACTCGGGCCGAGATGTGAT	0.599000														15			38		0	0	0.004672	0	0
CPN2	1370	broad.mit.edu	37	3	194062600	194062600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:194062600G>A	uc003fts.3	-	1	922	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	CPN2_uc021xix.1_Missense_Mutation_p.R278W	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	278					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGCAGGACCCGAAGCATGTTC	0.612000														32			27		0	0	0.004656	0	0
SSR2	6746	broad.mit.edu	37	1	155988123	155988123	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:155988123G>A	uc001fmx.3	-	2	272	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SSR2_uc010pgw.2_Silent_p.F83F	NM_003145	NP_003136	P43308	SSRB_HUMAN	Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.	64					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTCTGGAGGGAAGGAATCAT	0.468000														100			31		0	0	0.005524	0	0
PGK1	5230	broad.mit.edu	37	X	77373639	77373639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77373639G>A	uc004ecz.4	+	5	785	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PGK1_uc011mqq.2_Missense_Mutation_p.E177K	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	205					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GGAGAGCCCAGAGCGACCCTT	0.483000														53			24		0	0	0.002299	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988809	17988809	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:17988809C>T	uc002nhr.4	+	6	1223	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	292					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGTTCCTGATCGTGTCCAGCG	0.627000														38			36		0	0	0.003755	0	0
MUC13	56667	broad.mit.edu	37	3	124646426	124646426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:124646426G>A	uc003ehq.2	-	1	503	c.464C>T	c.(463-465)cCt>cTt	p.P155L		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	155	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GCCAGTGGGAGGCCCTGATGA	0.463000														45			22		0	0	0.002299	0	0
DNAH5	1767	broad.mit.edu	37	5	13824359	13824359	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:13824359C>T	uc003jfd.2	-	38	6570	c.6528G>A	c.(6526-6528)acG>acA	p.T2176T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2176					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2176T(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTGGACTCCGTATCCATTG	0.438000									Kartagener syndrome					13			14		0	0	0.004990	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526645	173526645	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:173526645A>G	uc001giz.2	-	9	1472	c.1049T>C	c.(1048-1050)tTg>tCg	p.L350S	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	350					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATAGTAAGCAACCTGTGGAG	0.299000														108			26		0	0	0.005443	0	0
QTRT1	81890	broad.mit.edu	37	19	10823850	10823850	+	Silent	SNP	C	T	T	rs139740339	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10823850C>T	uc002mpr.3	+	9	1141	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	DNM2_uc010dxk.2_Non-coding_Transcript	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	372					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TCCCGGACTTCGTGCGGGACT	0.657000														102			25		0	0	0.001512	0	0
BTLA	151888	broad.mit.edu	37	3	112190128	112190128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:112190128G>A	uc003dza.4	-	2	681	c.478C>T	c.(478-480)Cct>Tct	p.P160S	BTLA_uc003dzb.4_Intron	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	Homo sapiens B and T lymphocyte associated (BTLA), transcript variant 1, mRNA.	160					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CCCCCCAAAGGAAGTAAACGA	0.498000														32			12		0	0	0.001368	0	0
SUV39H1	6839	broad.mit.edu	37	X	48558701	48558701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48558701C>T	uc004dkn.3	+	2	430	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	SUV39H1_uc011mmf.2_Missense_Mutation_p.R140C|SUV39H1_uc011mmg.2_Intron	NM_003173	NP_003164	O43463	SUV91_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.	129					cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCGGGCGCTCCGTCGCTGGGA	0.662000														15			12		0	0	0.002450	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627296	140627296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140627296G>A	uc003lje.3	+	0	2150	c.2150G>A	c.(2149-2151)aGc>aAc	p.S717N		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	717					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGAGGAGCAGGGCGGCC	0.652000														196			61		0	0	0.003610	0	0
REXO1	57455	broad.mit.edu	37	19	1827820	1827820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1827820G>A	uc002lua.4	-	1	1063	c.968C>T	c.(967-969)tCc>tTc	p.S323F	REXO1_uc010dsr.1_Missense_Mutation_p.S277F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	323						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTCTTTGGAGGGTGGCTG	0.721000														22			13		0	0	0.001855	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676684	7676684	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:7676684G>A	uc002mgu.4	+	12	1487	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	CAMSAP3_uc002mgv.4_Silent_p.L435L|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	435	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGGACAGCCTGGGCCCCCCGC	0.682000														17			10		0	0	0.006214	0	0
GALNS	2588	broad.mit.edu	37	16	88902217	88902217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:88902217G>A	uc010cid.3	-	7	933	c.692C>T	c.(691-693)cCc>cTc	p.P231L	GALNS_uc002fly.4_Missense_Mutation_p.P225L|GALNS_uc002flz.4_5'UTR			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	225			A -> G (in dbSNP:rs34745339).			lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GAGGAAAAAGGGGTGGTGCCG	0.622000														34			39		0	0	0.001951	0	0
MYH6	4624	broad.mit.edu	37	14	23855140	23855140	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23855140G>A	uc001wjv.3	-	33	5231	c.5160C>T	c.(5158-5160)tcC>tcT	p.S1720S		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1720					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCTCACCTGGGAATGCAGCA	0.602000														70			23		0	0	0.001512	0	0
HYDIN	54768	broad.mit.edu	37	16	71103246	71103246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71103246G>A	uc002ezr.3	-	13	2049	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	HYDIN_uc010cfz.2_Missense_Mutation_p.S378F|HYDIN_uc021tkq.1_Missense_Mutation_p.S633F|HYDIN_uc010vmc.2_Missense_Mutation_p.S650F|HYDIN_uc010vmd.2_Missense_Mutation_p.S660F|HYDIN_uc002ezw.4_Missense_Mutation_p.S650F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	633										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCATTGAGGATATTTCTTC	0.478000														8			8		0	0	0.000673	0	0
ZNF812	729648	broad.mit.edu	37	19	9801498	9801498	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9801498C>T	uc021uop.1	-	5	1327	c.681G>A	c.(679-681)ggG>ggA	p.G227G	ZNF812_uc010xkx.2_Silent_p.G123G	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAAGGATTTCCCATGTTTCT	0.348000														6			19		0	0	0.006122	0	0
EGFR	1956	broad.mit.edu	37	7	55268959	55268959	+	Missense_Mutation	SNP	G	A	A	rs148019583		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:55268959G>A	uc003tqk.3	+	24	3271	c.3025G>A	c.(3025-3027)Gac>Aac	p.D1009N	EGFR_uc022adm.1_Missense_Mutation_p.D1009N|EGFR_uc010kzg.2_Missense_Mutation_p.D964N|EGFR_uc022adn.1_Missense_Mutation_p.D964N|EGFR_uc011kco.2_Missense_Mutation_p.D956N	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1009					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGACATGGACGACGTGGTGGA	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				72			47		0	0	0.003610	0	0
GPR133	283383	broad.mit.edu	37	12	131616322	131616322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:131616322C>T	uc010tbm.2	+	21	2883	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	GPR133_uc001uit.4_Missense_Mutation_p.A743V|GPR133_uc009zyo.3_Missense_Mutation_p.A25V|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	743					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGATCAGCGCCGACAACTAC	0.572000														19			30		0	0	0.003755	0	0
TIMM50	92609	broad.mit.edu	37	19	39971411	39971411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:39971411C>T	uc002olu.1	+	0	360	c.227C>T	c.(226-228)cCc>cTc	p.P76L	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	51					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCGCCCCTCCCCCGCGTTTCC	0.711000														6			6		0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471420	146471420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:146471420C>T	uc003weu.2	+	1	671	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	52	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCAGCTCCTCCTCCATCTCT	0.423000										HNSCC(39;0.1)				33			7		0	0	0.000673	0	0
THOP1	7064	broad.mit.edu	37	19	2799757	2799757	+	Missense_Mutation	SNP	C	T	T	rs143179443	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:2799757C>T	uc002lwj.3	+	4	712	c.557C>T	c.(556-558)aCg>aTg	p.T186M	THOP1_uc010xgz.2_Missense_Mutation_p.T65M	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	186					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.T186T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		AACGAGGACACGACCTTCCTG	0.612000														71			66		0	0	0.003610	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563302	140563302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140563302C>T	uc003liv.3	+	0	2323	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGACCTTCCCTTTCTTCT	0.463000														36			61		0	0	0.003610	0	0
DENND5B	160518	broad.mit.edu	37	12	31648823	31648823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:31648823C>T	uc001rkh.1	-	3	414	c.263G>A	c.(262-264)aGa>aAa	p.R88K	DENND5B_uc001rki.1_Missense_Mutation_p.R53K|DENND5B_uc001rkj.3_Missense_Mutation_p.R75K|DENND5B_uc001rkk.1_5'UTR	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	53	UDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTGAATGTTCTTCTCAAAGG	0.343000														28			14		0	0	0.003163	0	0
KEL	3792	broad.mit.edu	37	7	142651026	142651026	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142651026G>A	uc003wcb.3	-	8	1152	c.942C>T	c.(940-942)atC>atT	p.I314I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	314					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACAACCAGTCGATGGCGGGGG	0.522000														40			15		0	0	0.002450	0	0
SAPCD1	401251	broad.mit.edu	37	6	31732083	31732083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31732083C>T	uc003nwz.4	+	12	1772	c.392C>T	c.(391-393)aCc>aTc	p.T131I		NM_001039651	NP_001034740	Q5SSQ6	G7D_HUMAN	Homo sapiens suppressor APC domain containing 1 (SAPCD1), mRNA.	117																	TCCTGCACCACCCAGGATTCA	0.547000														183			94		0	0	0.003610	0	0
OR2B11	127623	broad.mit.edu	37	1	247615197	247615197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:247615197G>A	uc010pyx.2	-	0	88	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACAAAGAGAGGGAGTTCCAGC	0.552000														118			29		0	0	0.002096	0	0
C6orf165	154313	broad.mit.edu	37	6	88144696	88144696	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:88144696G>C	uc003plv.3	+	10	1542	c.1419G>C	c.(1417-1419)aaG>aaC	p.K473N	SLC35A1_uc003plx.3_5'Flank|C6orf165_uc003plu.2_Missense_Mutation_p.K473N|C6orf165_uc003plw.3_Missense_Mutation_p.K285N|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	473										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTAGAGAAAAGGCCAAAAAAA	0.269000														3			31		0	0	0.001512	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183150	140183150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140183150G>A	uc003lhf.2	+	0	2368	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.D790N	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	765					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAACAGGATGTGGACGT	0.453000														74			35		0	0	0.002836	0	0
F8	2157	broad.mit.edu	37	X	154156961	154156961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:154156961C>T	uc004fmt.3	-	13	5275	c.5104G>A	c.(5104-5106)Gat>Aat	p.D1702N		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1702					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGATTTTCATCCTCATCATAA	0.403000														10			7		0	0	0.001984	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325416	47325416	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:47325416C>T	uc001cqo.1	-	8		c.1152G>A								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CGGAGGCATTCCTTGATGCAC	0.507000														21			10		0	0	0.006214	0	0
ZNF831	128611	broad.mit.edu	37	20	57768049	57768049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:57768049C>T	uc002yan.3	+	0	1975	c.1975C>T	c.(1975-1977)Cct>Tct	p.P659S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	659						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTGGGCTTTCCTCTGCAGAA	0.582000														44			44		0	0	0.002222	0	0
AMOTL2	51421	broad.mit.edu	37	3	134085135	134085136	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:134085135_134085136CC>TT	uc003eqf.2	-	3	1466_1467	c.1349_1350GG>AA	c.(1348-1350)cgg>cAA	p.R450Q	AMOTL2_uc003eqg.1_Missense_Mutation_p.R392Q|AMOTL2_uc003eqh.1_Missense_Mutation_p.R392Q|AMOTL2_uc003eqe.1_Missense_Mutation_p.R17Q	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	392										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTCTAAGATCCCGGTTGAAGTC	0.505000														323			190		0	0	0.004672	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537985	27537985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:27537985C>T	uc001its.2	-	0	3251	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		TCAGACTGCACCAGTGAATCC	0.502000														11			140		0	0	0.003610	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175539	143175539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143175539C>T	uc003wdc.1	+	0	574	c.574C>T	c.(574-576)Cct>Tct	p.P192S	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	192					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGGTCAATTCCTTTTTCTGT	0.403000														21			19		0	0	0.007413	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111665	186111665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:186111665G>A	uc003ixf.4	-	1	833	c.686C>T	c.(685-687)tCg>tTg	p.S229L	KIAA1430_uc003ixg.3_Missense_Mutation_p.S229L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	229	Ser-rich.							p.S229L(2)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TGTTTCTGTCGATTTTATTCC	0.418000														14			19		0	0	0.001882	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811056	106811056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:106811056C>T	uc003ymd.3	+	6	867	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P13S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	282					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAGCTGCTCCGGTGTCAGA	0.507000														38			45		0	0	0.002222	0	0
EEPD1	80820	broad.mit.edu	37	7	36193980	36193980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:36193980C>T	uc003tfa.3	+	1	687	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	16					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGGGACCCCTCGGACCTGTCC	0.622000														36			27		0	0	0.003954	0	0
PNOC	5368	broad.mit.edu	37	8	28196831	28196831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:28196831C>T	uc010lva.2	+	2	609	c.401C>T	c.(400-402)aCc>aTc	p.T134I	PNOC_uc003xgp.3_Missense_Mutation_p.T134I|PNOC_uc011lau.1_Missense_Mutation_p.T70I	NM_006228	NP_006219	Q13519	PNOC_HUMAN	Homo sapiens prepronociceptin (PNOC), mRNA.	134					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GGGGGCTTCACCGGGGCCCGG	0.602000														40			31		0	0	0.002096	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261995	125261995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:125261995C>T	uc010flu.3	+	7	1553	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.R396*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	396	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T397T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTCCAGTTTCGAACATGGAA	0.552000														9			5		0	0	0.000602	0	0
ARID5B	84159	broad.mit.edu	37	10	63851009	63851009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:63851009C>T	uc001jlt.2	+	9	2243	c.1787C>T	c.(1786-1788)cCc>cTc	p.P596L	ARID5B_uc001jlu.2_Missense_Mutation_p.P353L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	596					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCATCCTTCCCCAGCTTCCCC	0.537000														1			13		0	0	0.001368	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973353	46973353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:46973353C>T	uc002peq.4	-	1	1246	c.940G>A	c.(940-942)Ggt>Agt	p.G314S	PNMAL1_uc002per.4_Missense_Mutation_p.G314S	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	314										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTCTGGGACCCTTCCAGGCA	0.577000														153			63		0	0	0.003610	0	0
IGSF5	150084	broad.mit.edu	37	21	41165499	41165499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:41165499G>A	uc002yyo.3	+	7	1190	c.1087G>A	c.(1087-1089)Gat>Aat	p.D363N		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	363						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGAATCCAGTGATCCTGAACA	0.423000														53			44		0	0	0.003610	0	0
TLE6	79816	broad.mit.edu	37	19	2987367	2987367	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:2987367C>T	uc002lwt.2	+	7	664	c.555C>T	c.(553-555)ggC>ggT	p.G185G	TLE6_uc002lwu.2_Silent_p.G62G	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	62					regulation of transcription, DNA-dependent	nucleus		p.R184I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		AGGCACCAGGCCTGGTGAGTA	0.627000														96			22		0	0	0.006320	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122298	73122298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:73122298C>T	uc001jrr.4	+	5	1418	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.S308F|SLC29A3_uc001jrt.4_Missense_Mutation_p.S248F	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	454					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GTGGTGATGTCCTTTTATGTG	0.592000														32			23		0	0	0.003330	0	0
C7	730	broad.mit.edu	37	5	40964898	40964898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:40964898G>A	uc003jmh.3	+	13	1919	c.1805G>A	c.(1804-1806)gGa>gAa	p.G602E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	602	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGCAATGAAGGATACTCTCTT	0.398000														13			11		0	0	0.000673	0	0
TST	7263	broad.mit.edu	37	22	37414702	37414702	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:37414702C>T	uc003aqg.3	-	0	767	c.72G>A	c.(70-72)aaG>aaA	p.K24K	TST_uc003aqh.3_Silent_p.K24K|MPST_uc003aqi.1_5'Flank|MPST_uc003aqm.3_5'Flank|MPST_uc003aql.3_5'Flank|MPST_uc011amu.2_5'Flank|MPST_uc003aqj.3_5'Flank	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	24					cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGGGCCCCAGCTTGCCAGTCC	0.672000														14			6		0	0	0.001984	0	0
DNAJA3	9093	broad.mit.edu	37	16	4493042	4493042	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4493042G>T	uc002cwk.3	+	5	885	c.808G>T	c.(808-810)Gtg>Ttg	p.V270L	DNAJA3_uc002cwl.3_Missense_Mutation_p.V270L|DNAJA3_uc010uxk.2_Missense_Mutation_p.V117L	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	270					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						AGGCCCTTTTGTGATGCGTTC	0.507000														46			44		1.06522e-23	2.04161e-23	0.003214	1	0
EML5	161436	broad.mit.edu	37	14	89206879	89206879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:89206879C>T	uc021ryf.1	-	4	812	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	EML5_uc021ryg.1_Missense_Mutation_p.R188Q	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	188						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAAGACACCTCGTTTTGGGGT	0.368000														104			110		0	0	0.003610	0	0
TEKT3	64518	broad.mit.edu	37	17	15222412	15222412	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:15222412T>C	uc002gon.3	-	4	903	c.716A>G	c.(715-717)aAg>aGg	p.K239R		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	239					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGCAATAGCCTTATCCAAATG	0.294000														57			68		0	0	0.003610	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650836	232650836	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:232650836G>T	uc001hvg.3	-	0	408	c.250C>A	c.(250-252)Cct>Act	p.P84T		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	84					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTTTAGGAGGCCATTCAGAC	0.517000														62			19		2.32416e-17	4.44643e-17	0.002299	1	0
OR6C4	341418	broad.mit.edu	37	12	55945751	55945751	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:55945751C>T	uc010spp.2	+	0	741	c.741C>T	c.(739-741)tcC>tcT	p.S247S		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTGTCATCTCCCTCTCTTATG	0.423000														13			6		0	0	0.003080	0	0
PLAG1	5324	broad.mit.edu	37	8	57080009	57080009	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:57080009T>A	uc003xsq.4	-	2	747	c.296A>T	c.(295-297)aAa>aTa	p.K99I	PLAG1_uc003xsr.4_Missense_Mutation_p.K99I|PLAG1_uc010lyi.3_Missense_Mutation_p.K99I|PLAG1_uc010lyj.3_Missense_Mutation_p.K17I|PLAG1_uc022aur.1_Missense_Mutation_p.K17I	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	99	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGAAACATTTTCTCACAATA	0.373000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									15			5		0	0	0.000602	0	0
AUTS2	26053	broad.mit.edu	37	7	70252288	70252288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:70252288C>T	uc003tvw.4	+	17	3137	c.2402C>T	c.(2401-2403)cCg>cTg	p.P801L	AUTS2_uc003tvx.4_Missense_Mutation_p.P777L|AUTS2_uc011keg.2_Missense_Mutation_p.P253L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	801								p.P800L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGAACGCCTCCGTCGTTCCCG	0.597000														42			15		0	0	0.004007	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668594	180668594	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:180668594C>T	uc003mni.1	-	2	433	c.327G>A	c.(325-327)ctG>ctA	p.L109L	GNB2L1_uc003mnj.1_Silent_p.L63L|GNB2L1_uc011dhk.1_Silent_p.L109L|GNB2L1_uc010jls.3_Silent_p.L68L|GNB2L1_uc011dhl.2_Silent_p.L109L	NM_006098	NP_006089	P63244	GBLP_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA.	109				Missing (in Ref. 4; BAG53102).	apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGGCCACACTCAGCACATCCT	0.507000														77			29		0	0	0.007291	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3145196	3145196	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:3145196G>A	uc002wia.1	-	2	3324	c.1926C>T	c.(1924-1926)gcC>gcT	p.A642A	ProSAPiP1_uc002wib.1_Silent_p.A596A	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	642						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CACCCCCTGCGGCCCCGCGCT	0.642000														60			39		0	0	0.007835	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683336	84683336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:84683336C>T	uc002bjz.4	+	23	4240	c.4016C>T	c.(4015-4017)tCt>tTt	p.S1339F	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S1339F	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1339	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGGAGGATCTCTGAGTGGC	0.428000														45			29		0	0	0.002836	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730499	37730499	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:37730499G>A	uc003xkm.2	-	3	1877	c.1821C>T	c.(1819-1821)tcC>tcT	p.S607S	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	607	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGTGGATGTGGAAATGGGAG	0.532000														47			49		0	0	0.003610	0	0
GJA4	2701	broad.mit.edu	37	1	35260147	35260147	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:35260147G>A	uc009vul.3	+	1	585	c.561G>A	c.(559-561)ggG>ggA	p.G187G	GJA4_uc001bya.3_Silent_p.G111G|GJA4_uc009vum.1_Silent_p.G111G|GJA4_uc021olb.1_Silent_p.G111G	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	111					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGGAGGGGGAGCTGCGGG	0.657000														14			11		0	0	0.002450	0	0
ITGAM	3684	broad.mit.edu	37	16	31283225	31283225	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:31283225C>T	uc002ebr.3	+	6	714	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	ITGAM_uc002ebq.3_Nonsense_Mutation_p.Q206*	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	206	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAAAGAGTTCCAGAACAACCC	0.552000														56			10		0	0	0.006214	0	0
abParts	0	broad.mit.edu	37	14	106926337	106926337	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106926337G>A	uc021ser.1	-	325		c.11531C>T								Parts of antibodies, mostly variable regions.																		CAACTAATAAGAGAGACCCAC	0.507000														73			45		0	0	0.003610	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049332	42049332	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:42049332C>T	uc001cgz.4	-	3	2350	c.1137G>A	c.(1135-1137)gcG>gcA	p.A379A	HIVEP3_uc001cha.4_Silent_p.A379A|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	379	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCTCAGAAACGCCTGCTCAT	0.567000														32			41		0	0	0.002222	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882158	228882158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228882158C>T	uc002vpq.2	-	6	3459	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1138K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1138K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1138						cytoplasm	protein binding	p.M1137I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTTCATTTTCCATCTGGTTC	0.537000														22			11		0	0	0.000673	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858151	18858152	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:18858151_18858152GG>AA	uc021qvx.1	-	6	1003_1004	c.812_813CC>TT	c.(811-813)tcc>tTT	p.S271F	PLCZ1_uc001rdv.4_Missense_Mutation_p.S167F|PLCZ1_uc001rdw.4_Missense_Mutation_p.S12F|PLCZ1_uc001rdu.1_Missense_Mutation_p.S12F|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	271	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGAAAGCAAGGACTCTCCAAA	0.401000														52			21		0	0	0.004672	0	0
CLCA4	22802	broad.mit.edu	37	1	87025893	87025893	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:87025893G>A	uc009wcs.3	+	3	345	c.301_splice	c.e3-1	p.A101_splice	CLCA4_uc009wct.3_Splice_Site|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	101						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AACATTCTCAGGCTGATGTTA	0.348000														3			19		0	0	0.007413	0	0
F2RL1	2150	broad.mit.edu	37	5	76129186	76129186	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:76129186C>T	uc003keo.3	+	1	929	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	252					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGGGGTCTTTCTGTTCCCAGC	0.502000														379			177		0	0	0.003610	0	0
PDIA2	64714	broad.mit.edu	37	16	335682	335682	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:335682A>G	uc002cgn.1	+	11	2206	c.1098A>G	c.(1096-1098)gcA>gcG	p.A366A	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Silent_p.A366A|PDIA2_uc010bqt.1_Silent_p.A211A	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	366					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCTGCCATGCAGTCCTCAACG	0.592000														29			8		0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82595633	82595633	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:82595633C>T	uc003uhx.2	-	3	3760	c.3471G>A	c.(3469-3471)gtG>gtA	p.V1157V	PCLO_uc003uhv.2_Silent_p.V1157V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1096					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGCTTTTTCACTAATTTTA	0.398000														37			6		0	0	0.001984	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474151	44474151	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:44474151T>C	uc001cll.3	-	4	875	c.683A>G	c.(682-684)gAc>gGc	p.D228G	SLC6A9_uc009vxe.2_Missense_Mutation_p.D84G|SLC6A9_uc010okm.1_Missense_Mutation_p.D155G|SLC6A9_uc001clm.3_Missense_Mutation_p.D174G|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.D159G|SLC6A9_uc010oko.2_Missense_Mutation_p.D44G|SLC6A9_uc001cln.3_Missense_Mutation_p.D155G|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	228						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCGGCGCAGTCATGCGTGTT	0.592000														50			30		0	0	0.004878	0	0
CBS	875	broad.mit.edu	37	21	44492180	44492180	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:44492180G>A	uc002zcu.2	-	2	369	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L	CBS_uc002zct.2_Silent_p.L42L|CBS_uc002zcw.3_Silent_p.L42L|CBS_uc002zcv.2_Silent_p.L42L	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	42					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGGATCCACAGGGGCTCCTTG	0.672000														245			217		0	0	0.003610	0	0
BCL9L	283149	broad.mit.edu	37	11	118769959	118769959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:118769959G>A	uc001pug.3	-	7	4630	c.3665C>T	c.(3664-3666)tCc>tTc	p.S1222F	BCL9L_uc009zal.3_Missense_Mutation_p.S1217F	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1222	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CATCTGGGAGGAGCTGGGCAC	0.711000														8			10		0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	90041410	90041410	+	Missense_Mutation	SNP	C	T	T	rs75732872		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:90041410C>T	uc003kju.3	+	51	10868	c.10772C>T	c.(10771-10773)tCa>tTa	p.S3591L	GPR98_uc003kjt.3_Missense_Mutation_p.S1297L|GPR98_uc003kjv.3_Missense_Mutation_p.S1191L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3591	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATGGTAGTTCAGGTGAACTG	0.308000														11			12		0	0	0.000978	0	0
GABRG3	2567	broad.mit.edu	37	15	27725917	27725917	+	Silent	SNP	C	T	T	rs77771286	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:27725917C>T	uc001zbg.2	+	5	950	c.696C>T	c.(694-696)atC>atT	p.I232I	GABRG3_uc001zbf.3_Silent_p.I232I	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	232					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACAGAAATCGTGACAACGT	0.443000														16			5		0	0	0.001168	0	0
SLC16A14	151473	broad.mit.edu	37	2	230924029	230924029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:230924029C>T	uc002vqd.2	-	1	499	c.40G>A	c.(40-42)Gat>Aat	p.D14N	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.D14N|SLC16A14_uc002vqf.3_Missense_Mutation_p.D14N	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	14						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TTGGGGCCATCTTCAAAATCA	0.383000														30			9		0	0	0.006214	0	0
MAP1A	4130	broad.mit.edu	37	15	43814203	43814203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43814203C>T	uc001zrt.3	+	3	999	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	178						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.R178C(2)|p.R178H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTCTATATCGTGTGGTCAG	0.562000														65			47		0	0	0.003610	0	0
SH2B1	25970	broad.mit.edu	37	16	28883219	28883219	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:28883219C>T	uc002dri.3	+	7	1867	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Silent_p.I166I|SH2B1_uc002drj.3_Silent_p.I476I|SH2B1_uc002drk.3_Silent_p.I476I|SH2B1_uc002drl.3_Silent_p.I476I|SH2B1_uc010vdd.2_Silent_p.I140I|SH2B1_uc010vde.2_Silent_p.I476I|SH2B1_uc002drm.3_Silent_p.I476I	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	476	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCCCGCATCCCCATTGAAG	0.627000														25			28		0	0	0.007291	0	0
CACNA1E	777	broad.mit.edu	37	1	181765975	181765975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:181765975C>T	uc009wxt.3	+	46	6575	c.6380C>T	c.(6379-6381)tCa>tTa	p.S2127L	CACNA1E_uc001gow.3_Missense_Mutation_p.S2084L|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2065L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2127					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGGGCAGGTCACAGACGCCC	0.587000														10			8		0	0	0.004482	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568255	140568255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140568255C>T	uc003liw.1	+	1	1361	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	455					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.612000														118			41		0	0	0.003610	0	0
OR1L3	26735	broad.mit.edu	37	9	125437455	125437455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125437455G>A	uc011lzb.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ATTCTCTTGGGACTCTCCTCT	0.423000														13			8		0	0	0.003080	0	0
EPG5	57724	broad.mit.edu	37	18	43534629	43534629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:43534629G>A	uc002lbm.3	-	1	839	c.739C>T	c.(739-741)Ccg>Tcg	p.P247S	EPG5_uc002lbo.1_Missense_Mutation_p.P247S	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	247					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTTGAGACGGGAGTTCTGGG	0.453000														47			20		0	0	0.002299	0	0
ANK3	288	broad.mit.edu	37	10	61833994	61833994	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:61833994C>T	uc001jky.3	-	36	6983	c.6645G>A	c.(6643-6645)aaG>aaA	p.K2215K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2215					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGCTTTAACCTTTTCTTTAA	0.423000														10			10		0	0	0.006214	0	0
CFP	5199	broad.mit.edu	37	X	47485869	47485869	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:47485869C>T	uc004dih.3	-	7	1232	c.990G>A	c.(988-990)cgG>cgA	p.R330R	CFP_uc004dig.4_Silent_p.R330R|CFP_uc004dii.1_Silent_p.R266R|CFP_uc010nhu.2_Silent_p.R330R	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	330	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ACTTCATGTTCCGTCGGATAC	0.612000														32			16		0	0	0.004007	0	0
PDE6C	5146	broad.mit.edu	37	10	95385364	95385364	+	Silent	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:95385364A>T	uc001kiu.4	+	4	1035	c.897A>T	c.(895-897)ggA>ggT	p.G299G		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	299	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TCAAGCTTGGAGAAGTAGAGC	0.408000														1			17		0	0	0.006122	0	0
SALL3	27164	broad.mit.edu	37	18	76754601	76754601	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:76754601G>A	uc002lmt.3	+	1	2610	c.2610G>A	c.(2608-2610)ggG>ggA	p.G870G	SALL3_uc010dra.3_Silent_p.G477G	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGGGTCCGGGGAGAGTGACC	0.672000														73			14		0	0	0.002450	0	0
APOA4	337	broad.mit.edu	37	11	116691667	116691667	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:116691667G>A	uc001pps.1	-	2	1211	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTCAGGGAGGGAGAGAGTCT	0.587000														379			150		0	0	0.003610	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122568	31122568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31122568C>T	uc003nsp.4	-	3	695	c.506G>A	c.(505-507)gGg>gAg	p.G169E	CCHCR1_uc011dne.2_Missense_Mutation_p.G80E|CCHCR1_uc003nsq.4_Missense_Mutation_p.G133E|CCHCR1_uc003nsr.4_Missense_Mutation_p.G80E|CCHCR1_uc010jsk.1_Missense_Mutation_p.G80E	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	80					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCCCTCCAGCCCCCAGGACCT	0.602000														25			4		0	0	0.000248	0	0
FSCN3	29999	broad.mit.edu	37	7	127235366	127235366	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:127235366G>A	uc003vmd.2	+	1	369	c.150G>A	c.(148-150)tgG>tgA	p.W50*	FSCN3_uc003vmc.1_Nonsense_Mutation_p.W5*|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Nonsense_Mutation_p.W50*	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	50						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCCAGACCTGGGAGATCTTGG	0.557000														68			23		0	0	0.003954	0	0
AGXT	189	broad.mit.edu	37	2	241808435	241808435	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:241808435G>A	uc002waa.4	+	0	274	c.153G>A	c.(151-153)aaG>aaA	p.K51K	AGXT_uc010zoi.1_Silent_p.K51K	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	51					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCATGAGCAAGGATATGTACC	0.637000														62			40		0	0	0.003610	0	0
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:57233561G>A	uc001cym.4	-	4	1410	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	C1orf168_uc009vzu.1_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	335								p.S335L(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTCAGATATGAAATTGTTGC	0.353000														26			19		0	0	0.003954	0	0
OR10A4	283297	broad.mit.edu	37	11	6898379	6898379	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6898379C>T	uc010rat.2	+	0	524	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTCAGTTTCCCTTTTTGTG	0.527000														23			9		0	0	0.000978	0	0
SIRT2	22933	broad.mit.edu	37	19	39379775	39379775	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:39379775G>A	uc002ojt.2	-	7	794	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SIRT2_uc010egi.2_Silent_p.F114F|SIRT2_uc002ojs.2_Silent_p.F131F|SIRT2_uc002oju.2_Silent_p.F114F|SIRT2_uc010egh.2_Silent_p.F114F|SIRT2_uc002ojv.2_Silent_p.F149F	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	151	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCAGGCGCATGAAGTAGTGAC	0.617000														75			29		0	0	0.004289	0	0
FREM1	158326	broad.mit.edu	37	9	14797593	14797593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:14797593C>T	uc003zlm.3	-	21	4558	c.3742G>A	c.(3742-3744)Gat>Aat	p.D1248N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1248					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATTGTAAAATCATCAGCAAGG	0.363000														36			35		0	0	0.005524	0	0
NEB	4703	broad.mit.edu	37	2	152418643	152418643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:152418643G>A	uc021vrb.1	-	91	13903	c.13874C>T	c.(13873-13875)tCa>tTa	p.S4625L	NEB_uc002txr.3_Missense_Mutation_p.S1091L|NEB_uc002txu.3_Missense_Mutation_p.S6326L|NEB_uc021vrc.1_Missense_Mutation_p.S6326L|NEB_uc010fnx.3_Missense_Mutation_p.S4613L|NEB_uc021vrd.1_Missense_Mutation_p.S4625L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4625					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGGTCGTATGATTTCTTGGC	0.483000														30			18		0	0	0.007413	0	0
PIGO	84720	broad.mit.edu	37	9	35095416	35095417	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:35095416_35095417GG>AA	uc003zwd.3	-	1	542_543	c.146_147CC>TT	c.(145-147)tcc>tTT	p.S49F	PIGO_uc003zwe.3_Missense_Mutation_p.S49F|PIGO_uc003zwf.3_Missense_Mutation_p.S49F|PIGO_uc003zwc.1_Missense_Mutation_p.S49F|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	49					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCATGGCAGGGACCCAGGGCC	0.599000														22			10		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179641338	179641338	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179641338G>A	uc021vsy.1	-	27	5478	c.5253C>T	c.(5251-5253)ctC>ctT	p.L1751L	TTN_uc021vsz.1_Silent_p.L1705L|TTN_uc021vta.1_Silent_p.L1705L|TTN_uc021vtb.1_Silent_p.L1705L|TTN_uc002unb.2_Silent_p.L1751L|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1751	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATCATACGGAGCCTGTTGG	0.483000														8			5		0	0	0.001168	0	0
KSR2	283455	broad.mit.edu	37	12	118199028	118199028	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:118199028G>A	uc001two.2	-	3	742	c.687C>T	c.(685-687)gtC>gtT	p.V229V		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	258	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGGGTGCGGACCGCGTGCC	0.736000														107			58		0	0	0.003610	0	0
SHC4	399694	broad.mit.edu	37	15	49160067	49160067	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:49160067C>T	uc001zxb.1	-	6	1324	c.895_splice	c.e6-1	p.D299_splice	SHC4_uc010uey.1_Splice_Site_p.D56_splice|SHC4_uc010uez.1_Splice_Site_p.D13_splice	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	299	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CTGTAGTATCCTATAAAAAAG	0.338000														120			30		0	0	0.002836	0	0
DSCAM	1826	broad.mit.edu	37	21	41561075	41561075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:41561075G>A	uc002yyq.1	-	11	2899	c.2447C>T	c.(2446-2448)cCc>cTc	p.P816L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	816	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACTATAATGGGCTTCTCACC	0.512000														121			32		0	0	0.003271	0	0
AVIL	10677	broad.mit.edu	37	12	58204325	58204325	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:58204325G>A	uc001sqj.2	-	5	597	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	AVIL_uc009zqe.2_Silent_p.L183L|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Silent_p.L167L|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	190	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCTTTGCCAGAAGCATAGCC	0.562000														49			21		0	0	0.002299	0	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:114326902C>T	uc003ynu.3	-	1	458	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_uc003ynt.3_Missense_Mutation_p.R60Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R100Q|CSMD3_uc010mcx.1_Missense_Mutation_p.R100Q|CSMD3_uc003ynx.4_Missense_Mutation_p.R100Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	100	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				203			56		0	0	0.003610	0	0
ATP2A1	487	broad.mit.edu	37	16	28913328	28913328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:28913328G>A	uc002dro.1	+	15	2429	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E749K|ATP2A1_uc002drp.1_Missense_Mutation_p.E624K	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	749					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCTGTGGAGGAGGGCCGCGC	0.592000														45			13		0	0	0.002450	0	0
GEM	2669	broad.mit.edu	37	8	95262548	95262548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:95262548G>A	uc003ygi.3	-	4	1005	c.881C>T	c.(880-882)tCt>tTt	p.S294F	GEM_uc003ygj.3_Missense_Mutation_p.S294F	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	294					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTAGAGTACAGAGAGGTCATG	0.478000														42			37		0	0	0.002852	0	0
COG4	25839	broad.mit.edu	37	16	70557456	70557456	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:70557456C>T	uc002ezc.3	-	1	1	c.-10_splice	c.e1-1		COG4_uc002ezd.3_Splice_Site|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site|SF3B3_uc002ezf.3_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.						Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTCGGCACTTCCGGTCCCGCG	0.582000														27			11		0	0	0.004007	0	0
CHD4	1108	broad.mit.edu	37	12	6705270	6705270	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:6705270G>A	uc001qpo.3	-	12	2090	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	CHD4_uc001qpn.3_Silent_p.I635I|CHD4_uc001qpp.3_Silent_p.I639I	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	642	Chromo 2.				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						CCCGCCACTTGATCAAGTAGT	0.507000														53			41		0	0	0.007835	0	0
OR1L4	254973	broad.mit.edu	37	9	125486370	125486370	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125486370C>T	uc004bmu.1	+	0	102	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCTTCCTCATCATGTACCTAC	0.507000														28			14		0	0	0.002450	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432314	20432314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:20432314C>T	uc001iqg.1	+	4	1269	c.632C>T	c.(631-633)tCc>tTc	p.S211F	PLXDC2_uc001iqh.1_Missense_Mutation_p.S162F|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	211						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCCAGTGTATCCAGAAATTCA	0.358000														4			31		0	0	0.001512	0	0
OR4K2	390431	broad.mit.edu	37	14	20345323	20345323	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20345323G>A	uc001vwh.1	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGCCATGAGGAAACTGAAAA	0.343000														46			9		0	0	0.000673	0	0
COL4A6	1288	broad.mit.edu	37	X	107418929	107418929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:107418929C>T	uc004enw.4	-	28	2891	c.2788G>A	c.(2788-2790)Gga>Aga	p.G930R	COL4A6_uc004env.4_Missense_Mutation_p.G929R|COL4A6_uc011msn.2_Missense_Mutation_p.G929R|COL4A6_uc010npk.3_Missense_Mutation_p.G929R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	930	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCCATTTTTCCAGTTGATCCT	0.458000									Alport syndrome with Diffuse Leiomyomatosis					19			10		0	0	0.000673	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778234	56778234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:56778234C>T	uc003jrm.3	-	0	403	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	101						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ATGGGATGCTCATCTGGTGCC	0.512000														6			7		0	0	0.001984	0	0
SPC25	57405	broad.mit.edu	37	2	169732594	169732594	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:169732594G>A	uc002uel.3	-	4	570	c.439C>T	c.(439-441)Cga>Tga	p.R147*		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	147	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TAAATTTTTCGAATTTCTAGT	0.284000														11			7		0	0	0.001984	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922086	159922086	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:159922086A>G	uc001fus.3	-	2	747	c.630T>C	c.(628-630)agT>agC	p.S210S	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	210	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGGCAAGAACTGACGTTGC	0.577000														48			46		0	0	0.003610	0	0
SAMD15	161394	broad.mit.edu	37	14	77845149	77845149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77845149G>A	uc001xtq.1	+	0	1388	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.G463E	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	463										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TACGCATTAGGATCTCTCAGA	0.363000														66			27		0	0	0.003954	0	0
PVR	5817	broad.mit.edu	37	19	45153184	45153184	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45153184C>T	uc002ozm.3	+	2	830	c.531C>T	c.(529-531)atC>atT	p.I177I	PVR_uc010ejs.3_Silent_p.I177I|PVR_uc010xxb.2_Silent_p.I177I|PVR_uc010xxc.2_Silent_p.I177I|PVR_uc002ozn.3_Silent_p.I122I	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	177	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CAGCCCAAATCACCTGGCACT	0.632000														226			94		0	0	0.003610	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249975	3249975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:3249975C>T	uc021qcj.1	-	0	52	c.52G>A	c.(52-54)Gag>Aag	p.E18K	MRGPRE_uc001lxq.4_Missense_Mutation_p.E18K	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCACATCCTCCTGGGCGCCG	0.672000														69			27		0	0	0.001512	0	0
TRPC6	7225	broad.mit.edu	37	11	101375483	101375483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:101375483G>A	uc001pgk.4	-	1	642	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	TRPC6_uc009ywy.3_Missense_Mutation_p.R73C|TRPC6_uc009ywz.1_Missense_Mutation_p.R73C	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	73					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCTTCTCACGGAGAACTGTC	0.468000														11			21		0	0	0.003954	0	0
CYTH4	27128	broad.mit.edu	37	22	37688702	37688702	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:37688702G>C	uc003arf.3	+	1	176	c.60G>C	c.(58-60)caG>caC	p.Q20H	CYTH4_uc003ard.4_Missense_Mutation_p.Q20H|CYTH4_uc003are.2_Missense_Mutation_p.Q20H|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	20					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AAGAGTTACAGAGGATCAAGT	0.602000														103			28		0	0	0.002836	0	0
ANO3	63982	broad.mit.edu	37	11	26663532	26663532	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:26663532A>T	uc001mqt.4	+	21	2376	c.2231A>T	c.(2230-2232)cAg>cTg	p.Q744L	ANO3_uc010rdr.2_Missense_Mutation_p.Q728L|ANO3_uc010rds.2_Missense_Mutation_p.Q583L|ANO3_uc010rdt.2_Missense_Mutation_p.Q598L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	744						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGAATCTGCAGCCCATGAAC	0.413000														23			10		0	0	0.001855	0	0
GABRB3	2562	broad.mit.edu	37	15	26828491	26828491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:26828491C>T	uc001zbb.3	-	5	803	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	GABRB3_uc021sgg.1_Missense_Mutation_p.E107K|GABRB3_uc021sgh.1_Missense_Mutation_p.E93K|GABRB3_uc001zaz.3_Missense_Mutation_p.E178K|GABRB3_uc001zba.3_Missense_Mutation_p.E178K	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	178					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.S234T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTTCAATTTCCAGAGTGCAG	0.428000														30			11		0	0	0.001368	0	0
FCHSD2	9873	broad.mit.edu	37	11	72598615	72598615	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:72598615A>C	uc009ytl.3	-	11	1267	c.1046T>G	c.(1045-1047)cTa>cGa	p.L349R	FCHSD2_uc010rrg.2_Missense_Mutation_p.L213R|FCHSD2_uc001oth.4_Missense_Mutation_p.L293R|FCHSD2_uc001oti.2_Missense_Mutation_p.L308R	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	349							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CAGATCATTTAGAACCTATTA	0.343000														349			154		0	0	0.003610	0	0
IDH3G	3421	broad.mit.edu	37	X	153055697	153055697	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153055697C>T	uc004fip.3	-	3	372	c.186G>A	c.(184-186)ggG>ggA	p.G62G	IDH3G_uc004fiq.3_Silent_p.G62G|IDH3G_uc004fit.1_Silent_p.G62G|IDH3G_uc004fiu.3_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	62					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CGATGCCATCCCCTGGGATCA	0.652000														66			31		0	0	0.002445	0	0
CACNB1	782	broad.mit.edu	37	17	37343112	37343112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:37343112G>A	uc002hrm.2	-	4	693	c.485C>T	c.(484-486)cCc>cTc	p.P162L	CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.3_Missense_Mutation_p.P162L|CACNB1_uc002hro.3_Missense_Mutation_p.P162L|CACNB1_uc002hrp.2_Missense_Mutation_p.P162L|CACNB1_uc010web.1_Missense_Mutation_p.P115L	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	162					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CAGTTTGACGGGGCTGGGAAT	0.597000														53			24		0	0	0.003330	0	0
B4GALT3	8703	broad.mit.edu	37	1	161145651	161145652	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:161145651_161145652CC>TA	uc001fys.2	-	2	855_856	c.199_200GG>TA	c.(199-201)ggt>TAt	p.G67Y	PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron|B4GALT3_uc001fyr.2_Missense_Mutation_p.G67Y|B4GALT3_uc001fyq.2_Missense_Mutation_p.G67Y|B4GALT3_uc001fyp.1_5'Flank|B4GALT3_uc009wud.2_Missense_Mutation_p.G67Y	NM_001199874	NP_001186803	O60512	B4GT3_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3), transcript variant 3, mRNA.	67					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGCTGGAGGACCCCCTGGGGCC	0.559000														157			32		0	0	0.004672	0	0
TNRC6A	27327	broad.mit.edu	37	16	24816999	24816999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:24816999C>T	uc002dmm.3	+	14	4310	c.4196C>T	c.(4195-4197)gCc>gTc	p.A1399V	TNRC6A_uc010bxs.3_Missense_Mutation_p.A1146V|TNRC6A_uc002dmn.3_Missense_Mutation_p.A1097V|TNRC6A_uc002dmo.3_Missense_Mutation_p.A1038V|TNRC6A_uc002dmp.3_5'UTR|TNRC6A_uc002dmq.3_Missense_Mutation_p.A66V	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1399					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAACAGGTAGCCATGCTGAAC	0.448000														52			37		0	0	0.005524	0	0
RSPO1	284654	broad.mit.edu	37	1	38078566	38078566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:38078566C>T	uc001cbl.2	-	7	1545	c.653G>A	c.(652-654)gGc>gAc	p.G218D	RSPO1_uc009vvf.2_Missense_Mutation_p.G191D|RSPO1_uc001cbm.2_Missense_Mutation_p.G218D|RSPO1_uc009vvg.2_Missense_Mutation_p.G155D	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	218					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.G218G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCCGCCGGCCCTGGCCTCC	0.612000														15			19		0	0	0.002299	0	0
FLJ43860	389690	broad.mit.edu	37	8	142446019	142446019	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142446019G>A	uc003ywi.2	-	26	3627	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1183							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGACCGTGGCGACAGCTGGGC	0.672000														62			12		0	0	0.001368	0	0
MRVI1	10335	broad.mit.edu	37	11	10649568	10649568	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:10649568C>T	uc010rcc.1	-	6	1043	c.657G>A	c.(655-657)ttG>ttA	p.L219L	MRVI1_uc010rcb.1_Silent_p.L210L|MRVI1_uc001miw.2_Silent_p.L210L|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Silent_p.L128L|MRVI1_uc010rcd.1_Silent_p.L219L|MRVI1_uc009ygd.1_Intron|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	209					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGCACACATCCAAACCTGGAA	0.622000														29			8		0	0	0.006214	0	0
CACNA1A	773	broad.mit.edu	37	19	13365996	13365996	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:13365996G>A	uc002mwy.3	-	28	4904	c.4668C>T	c.(4666-4668)taC>taT	p.Y1556Y	CACNA1A_uc002mwx.3_Silent_p.Y262Y|CACNA1A_uc010dzc.2_Silent_p.Y1082Y|CACNA1A_uc010xnd.2_Silent_p.Y1559Y|CACNA1A_uc021ups.1_Silent_p.Y1556Y|CACNA1A_uc010xne.2_Silent_p.Y1559Y|CACNA1A_uc010dze.2_Silent_p.Y1556Y|CACNA1A_uc021upt.1_Silent_p.Y1557Y|CACNA1A_uc002mwv.3_Silent_p.Y73Y	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1557					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCCACATGCGGTACTGGAAGC	0.582000														35			11		0	0	0.001368	0	0
FGFR2	2263	broad.mit.edu	37	10	123244938	123244938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:123244938C>T	uc021pzz.1	-	15	2813	c.2166G>A	c.(2164-2166)atG>atA	p.M722I	FGFR2_uc021pzv.1_Missense_Mutation_p.M610I|FGFR2_uc021pzw.1_Missense_Mutation_p.M607I|FGFR2_uc021pzx.1_Missense_Mutation_p.M633I|FGFR2_uc021pzy.1_Missense_Mutation_p.M723I|FGFR2_uc010qtl.2_Missense_Mutation_p.M606I|FGFR2_uc010qtm.2_Missense_Mutation_p.M605I|FGFR2_uc021qaa.1_Missense_Mutation_p.M723I|FGFR2_uc021qab.1_Missense_Mutation_p.M634I|FGFR2_uc021qac.1_Missense_Mutation_p.M651I|FGFR2_uc001lfg.4_Missense_Mutation_p.M330I|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	722	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGGCTTATCCATTCTGTGTC	0.527000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					30			20		0	0	0.001882	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70417114	70417114	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:70417114G>A	uc002eyw.2	-	3	2846	c.738C>T	c.(736-738)ttC>ttT	p.F246F	ST3GAL2_uc002eyx.2_Silent_p.F246F	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 2 (ST3GAL2), mRNA.	246					amino sugar metabolic process	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.S245A(1)|p.S245P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCACTCGAAGGAAGGACTTCA	0.527000														54			32		0	0	0.004878	0	0
FCAR	2204	broad.mit.edu	37	19	55385753	55385753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55385753C>T	uc002qhr.1	+	0	205	c.8C>T	c.(7-9)cCc>cTc	p.P3L	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.P3L|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_5'UTR|FCAR_uc002qhu.1_Missense_Mutation_p.P3L|FCAR_uc002qhv.1_Missense_Mutation_p.P3L|FCAR_uc002qhw.1_Missense_Mutation_p.P3L|FCAR_uc002qhx.1_Missense_Mutation_p.P3L|FCAR_uc002qhy.1_Missense_Mutation_p.P3L|FCAR_uc002qhz.1_Missense_Mutation_p.P3L|FCAR_uc002qia.1_Missense_Mutation_p.P3L	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	3					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ACGATGGACCCCAAACAGACC	0.478000														62			25		0	0	0.005443	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363408	4363408	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:4363408G>A	uc002maj.3	-	6	887	c.687C>T	c.(685-687)gcC>gcT	p.A229A	SH3GL1_uc002mak.3_Silent_p.A165A|SH3GL1_uc010xig.2_Silent_p.A181A	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	229	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GGATCTGCACGGCCTGCCGGT	0.667000			T	MLL	AL									17			11		0	0	0.001855	0	0
CEACAM16	388551	broad.mit.edu	37	19	45209008	45209008	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45209008C>T	uc010xxd.2	+	4	1016	c.810C>T	c.(808-810)gcC>gcT	p.A270A		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	270										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				ACGGGCAGGCCCTAAAGAACG	0.572000														359			139		0	0	0.003610	0	0
PSD2	84249	broad.mit.edu	37	5	139193050	139193050	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:139193050C>T	uc003leu.1	+	2	733	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	176					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTCAGCTTCGAGGCCCCCC	0.657000														36			18		0	0	0.006122	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955459	18955459	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:18955459G>A	uc001mpg.3	-	0	1091	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	291					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCCCTCTGGAGAACCAGCT	0.542000														85			24		0	0	0.003954	0	0
ANKRD29	147463	broad.mit.edu	37	18	21226157	21226157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:21226157C>T	uc002kun.3	-	2	382	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ANKRD29_uc002kuo.3_Missense_Mutation_p.R76K	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	76										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCTACCTCTCTCTGGAGATT	0.498000														55			14		0	0	0.003163	0	0
PCSK1	5122	broad.mit.edu	37	5	95735809	95735809	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:95735809C>T	uc003kls.2	-	9	1517	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*	PCSK1_uc010jbi.2_Nonsense_Mutation_p.W116*|PCSK1_uc021ybq.1_Nonsense_Mutation_p.W379*	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	426					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTCTTTTTCCATCCAGGGT	0.522000														69			24		0	0	0.005443	0	0
ZP4	57829	broad.mit.edu	37	1	238053477	238053477	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:238053477C>T	uc001hym.3	-	2	463	c.176_splice	c.e2-1	p.D59_splice	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	59					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCTTGGTTGTCTGGAGGGGTG	0.547000														28			17		0	0	0.003954	0	0
CCDC160	347475	broad.mit.edu	37	X	133378858	133378858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:133378858G>A	uc011mvj.2	+	1	349	c.28G>A	c.(28-30)Gag>Aag	p.E10K		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	Homo sapiens coiled-coil domain containing 160 (CCDC160), mRNA.	10										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						ACACTGGAAGGAGAATATGTT	0.388000														9			7		0	0	0.004482	0	0
PRB1	5542	broad.mit.edu	37	12	11506165	11506165	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:11506165T>C	uc001qzw.1	-	3	906	c.869A>G	c.(868-870)aAt>aGt	p.N290S	PRB1_uc001qzu.1_Missense_Mutation_p.N158S|PRB1_uc001qzv.1_Missense_Mutation_p.N138S	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	352	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTTGAGGATTGTTGCCTTC	0.632000														32			24		0	0	0.001786	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309716	153309716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153309716G>A	uc001fbo.3	-	7	949	c.884C>T	c.(883-885)tCc>tTc	p.S295F	PGLYRP4_uc001fbp.3_Missense_Mutation_p.S291F	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	295	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGTGGAGGAGCCTTGGAC	0.542000														11			9		0	0	0.004482	0	0
C12orf43	64897	broad.mit.edu	37	12	121454215	121454215	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:121454215C>T	uc009zxa.1	-	0	86	c.63G>A	c.(61-63)gaG>gaA	p.E21E	C12orf43_uc001tzh.1_Silent_p.E21E|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Silent_p.E21E|C12orf43_uc001tzi.1_Silent_p.E21E	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	21										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTCCAGCTCCTCCGCATCGC	0.622000														332			140		0	0	0.003610	0	0
SP6	80320	broad.mit.edu	37	17	45924778	45924778	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:45924778T>C	uc002imh.1	-	1	1296	c.1018A>G	c.(1018-1020)Aag>Gag	p.K340E	SP6_uc002img.1_Missense_Mutation_p.K340E|SP6_uc021tzc.1_Missense_Mutation_p.K340E	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GCCTCCTCCTTGGCGCCCTCG	0.706000														30			14		0	0	0.002450	0	0
CLIP4	79745	broad.mit.edu	37	2	29368224	29368224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:29368224C>T	uc002rmv.3	+	7	1251	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	CLIP4_uc002rmu.3_Missense_Mutation_p.P338S|CLIP4_uc010ezm.1_Missense_Mutation_p.P338S|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.P320S	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	338	CAP-Gly 1.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TAAATGTGCCCCCAAGTATGG	0.338000														6			3		0	0	0.004672	0	0
DGCR6L	85359	broad.mit.edu	37	22	20302981	20302981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:20302981G>A	uc010gsc.3	-	3	508	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	DGCR6L_uc002zrx.3_Missense_Mutation_p.R131C|DGCR6L_uc010gsb.3_Non-coding_Transcript			Q9BY27	DGC6L_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 6-like (DGCR6L), mRNA.	131						nucleus				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					TGCTCCTCACGGATCCGGTGT	0.677000														45			30		0	0	0.003271	0	0
WNT7A	7476	broad.mit.edu	37	3	13860547	13860547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:13860547G>A	uc003bye.1	-	3	1249	c.944C>T	c.(943-945)aCc>aTc	p.T315I		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	315					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GTACTGGTGGGTGTTGTAGCC	0.642000														19			23		0	0	0.003330	0	0
SPCS1	28972	broad.mit.edu	37	3	52741807	52741807	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52741807G>A	uc011bei.2	+	3	694	c.489G>A	c.(487-489)aaG>aaA	p.K163K	GLT8D1_uc003dfk.3_5'Flank|GLT8D1_uc003dfl.3_5'Flank|GLT8D1_uc003dfm.3_5'Flank|GLT8D1_uc003dfn.3_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	Homo sapiens signal peptidase complex subunit 1 homolog (S. cerevisiae) (SPCS1), mRNA.	163					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GAAAAATTAAGAGGCATGCTA	0.423000														95			46		0	0	0.003610	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604633	58604633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:58604633C>T	uc001nnd.4	-	4	462	c.331G>A	c.(331-333)Gat>Aat	p.D111N	GLYATL2_uc009ymq.3_Missense_Mutation_p.D111N	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	111						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ATTGCTTCATCCAAGCCCTCT	0.398000														46			12		0	0	0.001368	0	0
KIAA0195	9772	broad.mit.edu	37	17	73484956	73484956	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:73484956C>T	uc010wsa.2	+	5	951	c.759C>T	c.(757-759)ttC>ttT	p.F253F	KIAA0195_uc002jnz.4_Silent_p.F243F|KIAA0195_uc010wsb.2_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	243					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCGGCTTTTCCGTGTCCTTG	0.637000														44			48		0	0	0.003610	0	0
PSMD6	9861	broad.mit.edu	37	3	64004323	64004323	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:64004323G>A	uc003dmb.1	-	5	962	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	PSMD6_uc003dlz.1_Silent_p.L211L|PSMD6_uc003dma.1_Silent_p.L260L|PSMD6_uc003dmd.1_Silent_p.L222L	NM_014814	NP_055629	Q15008	PSMD6_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 (PSMD6), mRNA.	260	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		AGTGAAAACAGATACTGCCGA	0.348000														24			15		0	0	0.004007	0	0
GOLGA8C	729786	broad.mit.edu	37	15	20777948	20777948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:20777948C>T	uc010tzc.1	+	17	2204	c.1189C>T	c.(1189-1191)Cac>Tac	p.H397Y	DQ572979_uc001ytq.2_5'Flank					Homo sapiens golgin A8 family, member C (GOLGA8C), non-coding RNA.											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|ovary(1)|skin(1)	8						GGGTTCTCCCCACGACAAGCC	0.607000														97			23		0	0	0.002299	0	0
PRRC2B	84726	broad.mit.edu	37	9	134354000	134354000	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:134354000C>T	uc004can.4	+	16	4807	c.4752C>T	c.(4750-4752)gcC>gcT	p.A1584A	PRRC2B_uc004cao.4_Silent_p.A942A	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1584							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGAGCAGGCCGTGCAGGTGA	0.627000											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			46		0	0	0.002222	0	0
MLL3	58508	broad.mit.edu	37	7	151879490	151879490	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:151879490T>A	uc003wla.3	-	35	5674	c.5455A>T	c.(5455-5457)Atg>Ttg	p.M1819L	MLL3_uc003wkz.3_Missense_Mutation_p.M880L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1819					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCAGGAGACATATTTCCATTG	0.458000			N		medulloblastoma									117			41		0	0	0.002222	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089185	113089185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:113089185C>T	uc002thq.1	+	11	3084	c.2690C>T	c.(2689-2691)tCa>tTa	p.S897L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	897							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CCAGTGTCTTCAATCAATTTA	0.408000														23			12		0	0	0.000978	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027446	55027446	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:55027446C>T	uc002lgn.3	+	3	1438	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	361					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGCTGAGTTTCAGCTGCTGTA	0.488000														16			11		0	0	0.000978	0	0
MUC4	4585	broad.mit.edu	37	3	195517233	195517233	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:195517233G>C	uc021xjp.1	-	1	1374	c.1218C>G	c.(1216-1218)aaC>aaG	p.N406K	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.N288K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	411					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCCTCTGTGTTTCCAAGAG	0.458000														80			63		0	0	0.003610	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329892	8329892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8329892G>A	uc001qud.1	+	4	688	c.616G>A	c.(616-618)Gga>Aga	p.G206R	FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TCATCTATGTGGAAAAGCCTT	0.423000														96			16		0	0	0.001512	0	0
SLC6A14	11254	broad.mit.edu	37	X	115588829	115588829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:115588829C>T	uc004eqi.3	+	12	1800	c.1669C>T	c.(1669-1671)Cca>Tca	p.P557S		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	557					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGCGCAATTCCATACCCTGA	0.353000														109			44		0	0	0.002852	0	0
COL3A1	1281	broad.mit.edu	37	2	189858803	189858803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:189858803G>A	uc002uqj.1	+	16	1306	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	397	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTAAAGGCGAAATGGTAAG	0.373000														20			10		0	0	0.000673	0	0
C3	718	broad.mit.edu	37	19	6697542	6697542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6697542G>A	uc002mfm.3	-	20	2671	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	870					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCAGAAGGCTGGATTGTGGAG	0.597000														44			26		0	0	0.006320	0	0
CYBB	1536	broad.mit.edu	37	X	37641431	37641431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:37641431C>T	uc004ddr.2	+	1	197	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Intron|CYBB_uc011mkg.1_5'Flank	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	46					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AAGAAAACTTCTTGGGGTAAG	0.383000														8			4		0	0	0.000248	0	0
ACTR1B	10120	broad.mit.edu	37	2	98274437	98274437	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:98274437G>A	uc002syb.2	-	7	1102	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_005735	NP_005726	P42025	ACTY_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA.	298						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTGAGAGCACGATGTTGGCGA	0.597000														69			24		0	0	0.004656	0	0
ADRA2A	150	broad.mit.edu	37	10	112838505	112838505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:112838505C>T	uc001kzo.3	+	0	1716	c.751C>T	c.(751-753)Ccg>Tcg	p.P251S		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	236			N -> K (rare polymorphism; frequency in Caucasians 0.004 and in African-Americans 0.05; 40% increase in agonist-promoted Gi coupling; dbSNP:rs1800035).		Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CCGCCGGGGTCCGGACGCCGT	0.751000														1			9		0	0	0.006214	0	0
VPS13A	23230	broad.mit.edu	37	9	79936482	79936482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:79936482C>T	uc004akr.3	+	43	5910	c.5650C>T	c.(5650-5652)Ctt>Ttt	p.L1884F	VPS13A_uc004akp.4_Missense_Mutation_p.L1884F|VPS13A_uc004akq.4_Missense_Mutation_p.L1884F|VPS13A_uc004aks.3_Missense_Mutation_p.L1845F|VPS13A_uc004akt.3_Missense_Mutation_p.L224F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1884					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAAATTCCCTTGGACTTAC	0.338000														10			6		0	0	0.001168	0	0
FAM91A1	157769	broad.mit.edu	37	8	124811843	124811843	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:124811843C>T	uc003yqv.3	+	16	1705	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	FAM91A1_uc011lik.1_Silent_p.S548S|FAM91A1_uc011lil.2_Silent_p.S306S	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	548								p.P547A(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GACCACCATCCCTTTTATTGT	0.408000														29			25		0	0	0.006320	0	0
ZNF75D	7626	broad.mit.edu	37	X	134424998	134424998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:134424998G>A	uc022ceq.1	-	4	1150	c.760C>T	c.(760-762)Cct>Tct	p.P254S	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.P159S	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	254	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCTCAAGAGGATTCAATAAT	0.373000														99			41		0	0	0.002222	0	0
DNAH8	1769	broad.mit.edu	37	6	38843436	38843436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:38843436C>T	uc021yzh.1	+	52	7799	c.7690C>T	c.(7690-7692)Cat>Tat	p.H2564Y	DNAH8_uc003ooe.2_Missense_Mutation_p.H2347Y	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAACATCTTCATAAATTATT	0.378000														12			4		0	0	0.000602	0	0
PLSCR3	57048	broad.mit.edu	37	17	7296625	7296625	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:7296625G>A	uc002ggn.2	-	4	869	c.345C>T	c.(343-345)ccC>ccT	p.P115P	PLSCR3_uc002ggo.2_Silent_p.P115P|PLSCR3_uc002ggm.2_Silent_p.P115P|PLSCR3_uc002ggp.2_Intron|PLSCR3_uc002ggq.2_Intron|PLSCR3_uc010cmg.2_Silent_p.P115P|PLSCR3_uc002ggr.2_Silent_p.P115P	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	Homo sapiens phospholipid scramblase 3 (PLSCR3), transcript variant 1, mRNA.	115					phospholipid scrambling	integral to membrane|plasma membrane	SH3 domain binding|calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CCTGACCCAGGGGCTGCCCGG	0.721000														32			14		0	0	0.001855	0	0
MRPS34	65993	broad.mit.edu	37	16	1822335	1822335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1822335C>T	uc002cmo.3	-	2	564	c.544G>A	c.(544-546)Gga>Aga	p.G182R	NME3_uc002cmm.3_5'Flank|NME3_uc010brv.3_5'Flank|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	Homo sapiens mitochondrial ribosomal protein S34 (MRPS34), nuclear gene encoding mitochondrial protein, mRNA.	182						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						CTTGTGTCTCCATTTTTCTGT	0.597000														64			16		0	0	0.004007	0	0
CLGN	1047	broad.mit.edu	37	4	141331753	141331753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:141331753C>T	uc011chi.2	-	3	390	c.172G>A	c.(172-174)Gga>Aga	p.G58R	CLGN_uc003iii.3_Missense_Mutation_p.G58R	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	58					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TATACTTCTCCTATAGGTTGA	0.289000														43			30		0	0	0.002096	0	0
RUSC1	23623	broad.mit.edu	37	1	155292345	155292345	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:155292345A>G	uc001fkj.2	+	1	1010	c.781A>G	c.(781-783)Aat>Gat	p.N261D	RUSC1-AS1_uc001fkh.1_5'Flank|RUSC1-AS1_uc001fki.3_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.N261D|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	261						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AAACAACGGGAATGTTAACTC	0.383000														169			148		0	0	0.003610	0	0
GLI2	2736	broad.mit.edu	37	2	121747836	121747836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:121747836G>A	uc010flp.3	+	12	4376	c.4346G>A	c.(4345-4347)gGc>gAc	p.G1449D	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G1121D|GLI2_uc002tmu.4_Missense_Mutation_p.G1104D	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1449					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TACTACTACGGCCAGATCCAC	0.662000														54			34		0	0	0.005524	0	0
ERCC2	2068	broad.mit.edu	37	19	45867710	45867710	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45867710G>A	uc002pbj.2	-	7	737	c.690C>T	c.(688-690)gtC>gtT	p.V230V	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Silent_p.V152V|ERCC2_uc002pbk.2_Silent_p.V206V|ERCC2_uc002pbl.4_Silent_p.V206V|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	230	Helicase ATP-binding.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CGAAGACCACGACGGCCTTGC	0.632000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					26			11		0	0	0.000978	0	0
CXorf27	25763	broad.mit.edu	37	X	37850445	37850445	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:37850445G>A	uc004ddt.4	+	0	376	c.353G>A	c.(352-354)tGa>tAa	p.*118*		NM_012274	NP_036406	O75409	HYPM_HUMAN	Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.	0							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AAGAATGACTGAAGACTGGGT	0.502000														8			5		0	0	0.001168	0	0
MYF6	4618	broad.mit.edu	37	12	81101525	81101525	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:81101525C>T	uc001szf.2	+	0	118	c.27C>T	c.(25-27)ggC>ggT	p.G9G		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	9					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTGAAACTGGCTCCTATTTCT	0.488000														105			31		0	0	0.005524	0	0
OR4L1	122742	broad.mit.edu	37	14	20528749	20528749	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20528749C>T	uc001vwn.1	+	0	546	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGATCTTCCCCTTGTGATCA	0.403000														12			8		0	0	0.003080	0	0
ENOX1	55068	broad.mit.edu	37	13	43918819	43918819	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:43918819C>T	uc001uza.4	-	8	1191	c.891G>A	c.(889-891)cgG>cgA	p.R297R	ENOX1_uc001uzc.4_Silent_p.R297R|ENOX1_uc001uzb.4_Silent_p.R297R|ENOX1_uc010tfm.1_Silent_p.R110R	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	297					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTGCAGAGCGCCGATTCACTT	0.493000														50			28		0	0	0.002096	0	0
CACNA1F	778	broad.mit.edu	37	X	49075368	49075368	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49075368G>A	uc004dnb.3	-	21	2801	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	CACNA1F_uc010nip.3_Silent_p.S902S	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	913					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CAGTGAAAATGGAGGTGAAGG	0.542000														27			12		0	0	0.004007	0	0
HUWE1	10075	broad.mit.edu	37	X	53654436	53654436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53654436G>A	uc004dsp.3	-	16	1816	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	472					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCACAAACGGACATTCTTTT	0.318000														116			66		0	0	0.003610	0	0
CDH7	1005	broad.mit.edu	37	18	63527017	63527017	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:63527017C>A	uc002lkb.3	+	9	1994	c.1568C>A	c.(1567-1569)aCg>aAg	p.T523K	CDH7_uc002ljz.3_Missense_Mutation_p.T523K|CDH7_uc002lka.3_Missense_Mutation_p.T523K	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	523	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T523T(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTAACAACGGATGCAACA	0.363000														15			5		0.000602214	0.00113852	0.000602	1	0
SLIT3	6586	broad.mit.edu	37	5	168233482	168233482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:168233482G>A	uc010jjg.3	-	8	1324	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SLIT3_uc003mab.3_Missense_Mutation_p.P302S|SLIT3_uc010jji.2_Missense_Mutation_p.P302S|SLIT3_uc003mac.1_Missense_Mutation_p.P99S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	302	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTTGGCAGGAATCTCCATC	0.577000														28			9		0	0	0.000978	0	0
FAT4	79633	broad.mit.edu	37	4	126242647	126242647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:126242647C>T	uc003ifj.4	+	0	5081	c.5081C>T	c.(5080-5082)gCc>gTc	p.A1694V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1694	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGACCGCAGCCATTCTGGAC	0.443000														34			29		0	0	0.001786	0	0
ANO1	55107	broad.mit.edu	37	11	69978078	69978078	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:69978078A>T	uc001opj.3	+	10	1456	c.1151A>T	c.(1150-1152)aAg>aTg	p.K384M	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.K356M|ANO1_uc010rqk.2_Missense_Mutation_p.K119M	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	384					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTTTGCGACAAGACCTGCAGC	0.597000														11			16		0	0	0.006122	0	0
CECR2	27443	broad.mit.edu	37	22	17983973	17983973	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:17983973C>T	uc010gqw.1	+	5	669	c.669C>T	c.(667-669)tcC>tcT	p.S223S	CECR2_uc010gqv.1_Silent_p.S102S|CECR2_uc002zml.2_Silent_p.S102S|CECR2_uc002zmm.1_Silent_p.S102S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	265					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAGGACCTCCCTTCGAGAAC	0.577000														76			30		0	0	0.006320	0	0
CIRH1A	84916	broad.mit.edu	37	16	69177168	69177168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:69177168C>T	uc002ews.4	+	5	710	c.614C>T	c.(613-615)tCc>tTc	p.S205F	CIRH1A_uc002ewr.2_Missense_Mutation_p.S205F|CIRH1A_uc002ewt.4_Missense_Mutation_p.S122F|CIRH1A_uc010cfi.3_Missense_Mutation_p.S122F|CIRH1A_uc010cfj.1_Missense_Mutation_p.S24F	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	205						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCTTCTTGTCCGATGGCACT	0.522000														81			45		0	0	0.003610	0	0
PTPN13	5783	broad.mit.edu	37	4	87671906	87671906	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:87671906C>T	uc003hpz.3	+	17	3414	c.2934C>T	c.(2932-2934)ctC>ctT	p.L978L	PTPN13_uc003hpy.3_Silent_p.L978L|PTPN13_uc003hqa.3_Silent_p.L978L|PTPN13_uc003hqb.3_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	978						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGCCTCTCTCTATCCACATC	0.433000														3			6		0	0	0.003080	0	0
SCAF1	58506	broad.mit.edu	37	19	50150029	50150029	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50150029C>T	uc002poq.3	+	5	544	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	140					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGATCCCATCCCTCTGCCTG	0.662000														9			22		0	0	0.005443	0	0
C15orf2	23742	broad.mit.edu	37	15	24923830	24923830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:24923830G>A	uc001ywo.3	+	0	3290	c.2816G>A	c.(2815-2817)aGc>aAc	p.S939N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	939					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTGAGTGGCAGCATAATTCCA	0.488000														103			36		0	0	0.006230	0	0
DDX10	1662	broad.mit.edu	37	11	108547830	108547830	+	Missense_Mutation	SNP	C	T	T	rs147675016		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:108547830C>T	uc001pkm.3	+	3	462	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	DDX10_uc001pkl.1_Missense_Mutation_p.R133C	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	133	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGCCTTATATCGTCTGCAATG	0.448000			T	NUP98	AML*									35			61		0	0	0.003610	0	0
MLXIP	22877	broad.mit.edu	37	12	122611883	122611883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:122611883C>T	uc001ubq.3	+	1	602	c.494C>T	c.(493-495)gCc>gTc	p.A165V	MLXIP_uc001ubr.3_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	165	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTCAATAATGCCATCTGGCGG	0.587000														25			10		0	0	0.006214	0	0
GTF3C2	2976	broad.mit.edu	37	2	27559164	27559164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27559164G>A	uc002rju.1	-	7	1686	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rjv.1_Missense_Mutation_p.S419F|GTF3C2_uc002rjw.1_Missense_Mutation_p.S419F|GTF3C2_uc010eyz.2_Missense_Mutation_p.S419F|LOC100505624_uc002rjy.2_Non-coding_Transcript	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	419						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGGGCTGGAGAAAAGAGC	0.617000														80			34		0	0	0.003755	0	0
ADH1A	124	broad.mit.edu	37	4	100208064	100208064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:100208064G>A	uc003hur.2	-	2	316	c.202C>T	c.(202-204)Cat>Tat	p.H68Y	LOC100507053_uc003hum.2_Non-coding_Transcript|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.H68Y	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	68					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GCTGCCTCATGGCCTAAAATC	0.502000														70			41		0	0	0.003610	0	0
RAB37	326624	broad.mit.edu	37	17	72739288	72739288	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72739288G>A	uc010wrc.2	+	3	472	c.282G>A	c.(280-282)caG>caA	p.Q94Q	RAB37_uc002jlc.2_Silent_p.Q82Q|RAB37_uc002jld.2_Silent_p.Q82Q|RAB37_uc010dfu.3_Silent_p.Q82Q|RAB37_uc010wrb.2_Silent_p.Q57Q|RAB37_uc002jlk.3_Silent_p.Q89Q|RAB37_uc010wre.2_Silent_p.Q52Q	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	89					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CCGCTGGGCAGGAACGGTTCC	0.592000														88			43		0	0	0.003610	0	0
LDHC	3948	broad.mit.edu	37	11	18451302	18451302	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:18451302A>G	uc001mon.4	+	3	375	c.263A>G	c.(262-264)aAc>aGc	p.N88S	LDHC_uc001mom.4_Missense_Mutation_p.N88S|LDHC_uc009yhp.3_Missense_Mutation_p.N88S|LDHC_uc001moo.4_5'UTR|LDHC_uc009yhq.3_Intron|LDHC_uc009yhr.3_5'UTR	NM_017448	NP_059144	P07864	LDHC_HUMAN	Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA.	88					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	GTATCTGCAAACTCCAGAATA	0.388000														12			28		0	0	0.002096	0	0
DNAH17	8632	broad.mit.edu	37	17	76565274	76565274	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:76565274A>G	uc010dhp.2	-	8	1383	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	DNAH17_uc002jvv.2_Missense_Mutation_p.F122L	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCTGGAAGAAGGAATTTATC	0.507000														8			8		0	0	0.004482	0	0
NLRP2	55655	broad.mit.edu	37	19	55512131	55512131	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55512131G>A	uc021vbq.1	+	12	3165	c.3054G>A	c.(3052-3054)ttG>ttA	p.L1018L	NLRP2_uc010yfp.2_Silent_p.L995L|NLRP2_uc002qij.3_Silent_p.L1018L|NLRP2_uc010esp.3_Silent_p.L996L|NLRP2_uc010esn.3_Silent_p.L994L|NLRP2_uc010eso.3_Silent_p.L1015L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	1018					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCCCAGGTTGAAAATCGATG	0.403000														62			20		0	0	0.002299	0	0
C19orf29	58509	broad.mit.edu	37	19	3620798	3620798	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3620798G>A	uc002lyh.3	-	2	698	c.645C>T	c.(643-645)gcC>gcT	p.A215A	C19orf29_uc010xho.2_5'Flank|C19orf29_uc010dtn.3_Silent_p.A63A|C19orf29_uc002lyi.4_Silent_p.A215A|C19orf29_uc010dto.3_Non-coding_Transcript|C19orf29_uc010xhp.1_5'Flank	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	215						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCTCCAGGGCCTGGAAGC	0.622000														36			16		0	0	0.004990	0	0
ZFP64	55734	broad.mit.edu	37	20	50769128	50769128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:50769128G>A	uc002xwl.3	-	5	1952	c.1603C>T	c.(1603-1605)Cca>Tca	p.P535S	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.P533S|ZFP64_uc002xwn.3_Missense_Mutation_p.P481S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGTTCCCTGGGAGTTCCTCT	0.687000														46			7		0	0	0.003080	0	0
DNAH3	55567	broad.mit.edu	37	16	21123095	21123095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:21123095C>T	uc010vbe.2	-	13	1951	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	DNAH3_uc002die.2_Missense_Mutation_p.E591K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	651	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATGCAATTTCATTTCTCCGT	0.468000														11			4		0	0	0.000248	0	0
NOX1	27035	broad.mit.edu	37	X	100104886	100104886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:100104886C>T	uc004egj.3	-	9	1377	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	NOX1_uc004egl.4_Missense_Mutation_p.D391N|NOX1_uc010nne.3_Missense_Mutation_p.D354N	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	391	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGGAAAACATCCTCACTGGCT	0.502000														19			4		0	0	0.000248	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129042	248129042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248129042C>T	uc010pzd.2	+	0	409	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCTTATGATCGCTATGTAGC	0.438000														72			55		0	0	0.003610	0	0
PELP1	27043	broad.mit.edu	37	17	4576309	4576309	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:4576309G>A	uc002fyi.4	-	15	2203	c.1977C>T	c.(1975-1977)ccC>ccT	p.P659P	PELP1_uc010vsf.2_Silent_p.P512P	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	659	Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGGCCCTGAAGGGCGATGGGG	0.706000														67			26		0	0	0.007291	0	0
COL4A4	1286	broad.mit.edu	37	2	227917034	227917034	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:227917034G>A	uc021vxr.1	-	30	3056	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F	COL4A4_uc021vxs.1_Silent_p.F985F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	985	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTCTCCTGGGAATCCATCAT	0.428000														38			21		0	0	0.002780	0	0
POTEH	23784	broad.mit.edu	37	22	16279245	16279245	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:16279245T>A	uc010gqp.2	-	3	1030	c.978A>T	c.(976-978)aaA>aaT	p.K326N	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.K45N|POTEH_uc002zlj.1_Missense_Mutation_p.K161N	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	326										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGATTAAAAATTTCACCACTT	0.333000														542			23		0	0	0.003330	0	0
TRPC3	7222	broad.mit.edu	37	4	122853824	122853824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:122853824G>A	uc003ieg.2	-	1	663	c.589C>T	c.(589-591)Cac>Tac	p.H197Y	TRPC3_uc010inr.2_Missense_Mutation_p.H124Y|TRPC3_uc003ief.2_Missense_Mutation_p.H124Y|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	112					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGCCAGGGTGGTTGAGGATG	0.637000														19			16		0	0	0.004990	0	0
ADAD2	161931	broad.mit.edu	37	16	84229035	84229035	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84229035C>T	uc002fhq.2	+	5	1227	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	ADAD2_uc002fhr.2_Silent_p.A289A|AK123582_uc002fhs.1_5'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	289	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGGTCATCGCCCGCAGGGCCC	0.667000														10			8		0	0	0.004482	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428878	120428878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:120428878G>A	uc003vjk.3	-	7	1060	c.686C>T	c.(685-687)tCc>tTc	p.S229F	TSPAN12_uc010lkj.3_Missense_Mutation_p.S102F	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	229					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CACCCCAATGGAGATTCCCAG	0.453000														17			9		0	0	0.006214	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48839663	48839663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48839663G>A	uc004dly.1	-	15	1497	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C	GRIPAP1_uc004dlz.3_Missense_Mutation_p.R378C|GRIPAP1_uc004dma.3_Missense_Mutation_p.R435C	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	488						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATCTGCCCACGGAGCTCCTCC	0.597000														32			22		0	0	0.003330	0	0
MUSK	4593	broad.mit.edu	37	9	113445080	113445080	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:113445080A>G	uc022blv.1	+	2	340	c.206_splice	c.e2+1	p.K69_splice	MUSK_uc022blt.1_Splice_Site_p.K69_splice|MUSK_uc004bez.2_Splice_Site_p.K69_splice|MUSK_uc022blu.1_Splice_Site_p.K69_splice	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	69	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATTCTCATTAAGTAAGTATTC	0.328000														21			15		0	0	0.002450	0	0
FAT1	2195	broad.mit.edu	37	4	187549424	187549424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:187549424G>A	uc003izf.3	-	8	4882	c.4694C>T	c.(4693-4695)tCc>tTc	p.S1565F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1565	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTGTAGGAGGAAGCGGTGAA	0.512000										HNSCC(5;0.00058)				6			7		0	0	0.003080	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154672	37154672	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:37154672C>T	uc002xiw.3	+	12	2294	c.2037C>T	c.(2035-2037)acC>acT	p.T679T	RALGAPB_uc002xix.3_Silent_p.T679T|RALGAPB_uc002xiy.1_Silent_p.T679T|RALGAPB_uc002xiz.3_Silent_p.T457T|RALGAPB_uc002xja.1_Silent_p.T406T	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	679					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCAACAACACCCAAATGATAT	0.418000														45			23		0	0	0.006320	0	0
ADAM9	8754	broad.mit.edu	37	8	38880705	38880705	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:38880705C>T	uc003xmr.3	+	8	853	c.775C>T	c.(775-777)Cta>Tta	p.L259L	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	259	Peptidase M12B.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TCGAATTGTGCTAGTTGGACT	0.373000														68			20		0	0	0.001523	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882679	143882679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143882679C>T	uc010lpc.3	+	0	2132	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	695	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						TGGCCTTATTCCTCCACCTCT	0.498000														340			15		0	0	0.003610	0	0
GNA11	2767	broad.mit.edu	37	19	3121077	3121077	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3121077A>G	uc002lxd.3	+	6	1222	c.980A>G	c.(979-981)cAc>cGc	p.H327R	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	327					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ATCTACTCACACTTCACGTGT	0.607000			Mis		uveal melanoma									57			11		0	0	0.000978	0	0
DLG3	1741	broad.mit.edu	37	X	69719101	69719101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:69719101C>T	uc004dyi.2	+	14	2293	c.1946C>T	c.(1945-1947)cCa>cTa	p.P649L	DLG3_uc004dyj.2_Missense_Mutation_p.P344L|DLG3_uc011mpn.2_Missense_Mutation_p.P198L	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	649	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCCGAATTTCCACATAAATTT	0.493000														12			4		0	0	0.001168	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994736	45994736	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:45994736C>T	uc002zfk.1	+	0	1131	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	367	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCTGCCGCCCCGTGTGCAGGC	0.687000														122			28		0	0	0.007291	0	0
UPF3B	65109	broad.mit.edu	37	X	118986781	118986781	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:118986781T>A	uc004erz.2	-	0	211	c.111A>T	c.(109-111)gaA>gaT	p.E37D	UPF3B_uc004esa.2_Missense_Mutation_p.E37D	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	37	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCTGCTTATCTTCCCCCTTGG	0.662000														170			67		0	0	0.003610	0	0
NME8	51314	broad.mit.edu	37	7	37890317	37890317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:37890317G>A	uc003tfn.3	+	4	550	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	60	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAACGAAGACGAAATTCTGCA	0.323000														19			7		0	0	0.001984	0	0
ZNF527	84503	broad.mit.edu	37	19	37870059	37870059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:37870059C>T	uc010efk.1	+	2	182	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ZNF527_uc002ogf.3_Missense_Mutation_p.S24F|ZNF527_uc010xtq.1_Non-coding_Transcript|ZNF527_uc002oge.3_Missense_Mutation_p.S24F	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTAGACTTTTCCCAAGAAGAG	0.438000														49			17		0	0	0.007413	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103478478	103478478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:103478478C>T	uc001ymi.1	-	1	455	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	75					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D75E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATTTCAAAGTCTTCTCGATGA	0.328000														86			25		0	0	0.002096	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33954734	33954734	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:33954734C>T	uc001bxj.4	+	3	791	c.624C>T	c.(622-624)gtC>gtT	p.V208V	ZSCAN20_uc001bxk.2_Intron|ZSCAN20_uc009vui.3_Silent_p.V208V	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	208					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCCCCGAGTCCCTACTCTCC	0.498000														0			11		0	0	0.000978	0	0
ALS2CL	259173	broad.mit.edu	37	3	46712537	46712537	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:46712537G>A	uc003cqa.2	-	25	2992	c.2799C>T	c.(2797-2799)atC>atT	p.I933I	ALS2CL_uc003cpx.2_Silent_p.I280I|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.I448I|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.I933I	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	933	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTTCTTTCTGGATGTGCTCGT	0.577000														95			48		0	0	0.003610	0	0
GPR149	344758	broad.mit.edu	37	3	154056018	154056019	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:154056018_154056019CC>TT	uc003faa.3	-	3	1765_1766	c.1665_1666GG>AA	c.(1663-1668)cagggg>caAAgg	p.G556R		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	556						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q555K(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GACACAGTCCCCTGGAATGCAC	0.446000														33			18		0	0	0.004672	0	0
XIST	7503	broad.mit.edu	37	X	73053138	73053138	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73053138G>A	uc004ebm.1	-	2		c.11508C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GATTCTCAAAGGGAAAGATAT	0.433000														15			4		0	0	0.000248	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581199	24581199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:24581199C>T	uc011djo.2	-	6	1734	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	KIAA0319_uc011djp.2_Missense_Mutation_p.E367K|KIAA0319_uc003neh.1_Missense_Mutation_p.E412K|KIAA0319_uc011djq.1_Missense_Mutation_p.E403K|KIAA0319_uc011djr.1_Missense_Mutation_p.E412K|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	412	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAGGCGTTTTCACTAGAAACA	0.408000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			11		0	0	0.002450	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674495	71674495	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71674495G>A	uc002fau.3	+	2	861	c.798G>A	c.(796-798)ctG>ctA	p.L266L	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	269	MARVEL.					integral to membrane		p.L266M(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCTCGCCCCTGATATACGGTG	0.577000														18			13		0	0	0.001855	0	0
CALD1	800	broad.mit.edu	37	7	134644731	134644731	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:134644731A>G	uc003vrz.3	+	11	2534	c.2068A>G	c.(2068-2070)Aaa>Gaa	p.K690E	CALD1_uc003vry.3_Missense_Mutation_p.K435E|CALD1_uc003vsb.3_Missense_Mutation_p.K435E|CALD1_uc011kpt.2_Missense_Mutation_p.K209E|CALD1_uc010lmm.3_Missense_Mutation_p.K460E|CALD1_uc003vsc.3_Missense_Mutation_p.K455E|CALD1_uc003vsd.3_Missense_Mutation_p.K429E|CALD1_uc011kpu.2_Missense_Mutation_p.K440E|CALD1_uc011kpv.2_Missense_Mutation_p.K299E|CALD1_uc003vse.3_Missense_Mutation_p.K553E|CALD1_uc010lmn.3_Non-coding_Transcript	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	690					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TCAGGGAACAAAAAGCGCAAA	0.403000														14			21		0	0	0.002299	0	0
FLNB	2317	broad.mit.edu	37	3	58095019	58095019	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:58095019A>G	uc003djj.2	+	13	2334	c.2169A>G	c.(2167-2169)ggA>ggG	p.G723G	FLNB_uc010hne.2_Silent_p.G723G|FLNB_uc003djk.2_Silent_p.G723G|FLNB_uc010hnf.2_Silent_p.G723G|FLNB_uc003djl.2_Silent_p.G554G|FLNB_uc003djm.2_Silent_p.G554G	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	723					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTCTGGGGAGGCGTGAACA	0.542000														19			4		0	0	0.000248	0	0
PTOV1	53635	broad.mit.edu	37	19	50357780	50357780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50357780G>A	uc002pqf.1	+	1	459	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	LOC100506033_uc002ppy.4_5'Flank|PTOV1_uc010ybf.2_Missense_Mutation_p.G65S|PTOV1_uc002pqb.4_Missense_Mutation_p.G65S|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript|MIR4749_uc021uxw.1_5'Flank	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGCTTGGAGCGGCGTCCTCGA	0.687000														27			41		0	0	0.002222	0	0
VAT1L	57687	broad.mit.edu	37	16	77859274	77859274	+	Silent	SNP	C	T	T	rs149678482	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:77859274C>T	uc002ffg.1	+	2	592	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	165							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCATGAACTTCGTCACAGCCT	0.552000														35			6		0	0	0.001984	0	0
E2F7	144455	broad.mit.edu	37	12	77449680	77449680	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:77449680G>A	uc001sym.4	-	2	560	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	108					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAATGGGTCGGAATAGTCCCT	0.443000														42			29		0	0	0.002096	0	0
ZNF500	26048	broad.mit.edu	37	16	4815779	4815779	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4815779G>A	uc002cxp.1	-	1	448	c.201C>T	c.(199-201)gcC>gcT	p.A67A	ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Silent_p.A67A	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGCGGCTCAGGGCCTCCCGGG	0.682000														17			13		0	0	0.001368	0	0
DMXL2	23312	broad.mit.edu	37	15	51742477	51742477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:51742477G>A	uc010ufy.2	-	41	8978	c.8753C>T	c.(8752-8754)tCg>tTg	p.S2918L	DMXL2_uc002abd.3_Missense_Mutation_p.S1009L|DMXL2_uc002abf.3_Missense_Mutation_p.S2917L|DMXL2_uc010bfa.3_Missense_Mutation_p.S2281L|DMXL2_uc002abc.3_Non-coding_Transcript	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2917						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCTACCCCCCGAGATTAGGAG	0.488000														51			46		0	0	0.003610	0	0
CDC27	996	broad.mit.edu	37	17	45234304	45234304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:45234304C>T	uc002ile.4	-	6	944	c.817G>A	c.(817-819)Gca>Aca	p.A273T	CDC27_uc002ild.4_Missense_Mutation_p.A273T|CDC27_uc002ilf.4_Missense_Mutation_p.A273T|CDC27_uc010wkp.2_Missense_Mutation_p.A212T|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTAAGAGCTGCTGGTCCTCCT	0.358000														70			8		0	0	0.003080	0	0
UBR4	23352	broad.mit.edu	37	1	19439233	19439233	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:19439233C>T	uc001bbi.3	-	77	11590	c.11586G>A	c.(11584-11586)ctG>ctA	p.L3862L	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3862					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCCACAGCCCAGGACGGATA	0.582000														64			49		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179633410	179633410	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179633410A>G	uc021vsy.1	-	37	9378	c.9153T>C	c.(9151-9153)ctT>ctC	p.L3051L	TTN_uc021vsz.1_Silent_p.L3005L|TTN_uc021vta.1_Silent_p.L3005L|TTN_uc021vtb.1_Silent_p.L3005L|TTN_uc002unb.2_Silent_p.L3051L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3051							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACATAAAGTGTGGCTG	0.353000														11			12		0	0	0.001855	0	0
FLT1	2321	broad.mit.edu	37	13	28877372	28877372	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:28877372T>G	uc001usb.3	-	29	4234	c.3949A>C	c.(3949-3951)Aaa>Caa	p.K1317Q	FLT1_uc010aap.2_Missense_Mutation_p.K322Q|FLT1_uc010aaq.2_Missense_Mutation_p.K442Q|FLT1_uc001usa.3_Missense_Mutation_p.K535Q	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1317					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CACGCGATTTTCCTTTCCAGC	0.572000														40			19		0	0	0.001216	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142599	3142599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3142599C>T	uc002ctv.1	-	0	263	c.175G>A	c.(175-177)Gag>Aag	p.E59K	ZSCAN10_uc002cty.1_Intron|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G66E|ZSCAN10_uc002ctx.1_5'UTR	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	59	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGCACCACCTCCTCCCCATCC	0.697000														8			13		0	0	0.001855	0	0
PRODH2	58510	broad.mit.edu	37	19	36304130	36304130	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:36304130C>T	uc002obx.1	-	0	72	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	18					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			cgtttgtaatcccaacacttt	0.408000														8			17		0	0	0.004007	0	0
NEUROG2	63973	broad.mit.edu	37	4	113435904	113435904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:113435904G>A	uc003ias.3	-	1	1055	c.728C>T	c.(727-729)cCg>cTg	p.P243L	NEUROG2_uc021xqu.1_Missense_Mutation_p.P243L	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	243	Ser-rich.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGACCCGGCCGGGCTGGCGGG	0.637000														22			8		0	0	0.003080	0	0
NPVF	64111	broad.mit.edu	37	7	25266258	25266258	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:25266258G>T	uc003sxo.3	-	1	573	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	176					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GACTGTTTTTGATCGGGATTC	0.403000														69			58		3.13296e-38	6.02212e-38	0.003610	1	0
PTH2R	5746	broad.mit.edu	37	2	209309571	209309571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:209309571C>T	uc010zjb.2	+	6	1131	c.845C>T	c.(844-846)tCg>tTg	p.S282L	PTH2R_uc002vdb.3_Missense_Mutation_p.S271L	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	271						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GCTTTCTTTTCGGACACCAAA	0.398000														102			30		0	0	0.002836	0	0
GGN	199720	broad.mit.edu	37	19	38877615	38877615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38877615G>A	uc002oij.1	-	2	422	c.287C>T	c.(286-288)cCa>cTa	p.P96L	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P13L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	96	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCGGGGGTGGTGCAGAGAC	0.726000														10			5		0	0	0.001984	0	0
CEP112	201134	broad.mit.edu	37	17	64024479	64024479	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:64024479T>G	uc002jfl.3	-	14	1767	c.1548A>C	c.(1546-1548)ttA>ttC	p.L516F	CEP112_uc010deo.3_Missense_Mutation_p.L258F|CEP112_uc002jfm.3_Missense_Mutation_p.L516F|CEP112_uc010dep.2_Missense_Mutation_p.L474F	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	516						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ACTGCTGTTTTAATTGACAGA	0.323000														23			13		0	0	0.004990	0	0
PRSS54	221191	broad.mit.edu	37	16	58314308	58314308	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:58314308C>T	uc002enf.3	-	6	1403	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	PRSS54_uc002eng.3_Silent_p.R336R|PRSS54_uc010vie.2_Silent_p.R237R|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	336					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATCCTTCTCCCTAACATCTA	0.473000														46			11		0	0	0.000978	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453536	143453536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143453536C>T	uc003wdk.4	-	0	1308	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	406						integral to membrane											CGGTAATTTTCCTCCACTGTT	0.368000														226			31		0	0	0.001512	0	0
NEU2	4759	broad.mit.edu	37	2	233898884	233898884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:233898884C>T	uc010zmn.2	+	1	260	c.260C>T	c.(259-261)cCa>cTa	p.P87L		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	87							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TCCATGAACCCATGCCCCTTG	0.602000														142			38		0	0	0.003214	0	0
SOGA1	140710	broad.mit.edu	37	20	35444583	35444583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:35444583G>A	uc021wcx.1	-	4	1602	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	SOGA1_uc002xgd.1_Missense_Mutation_p.S183L	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	183								p.S421S(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCCATAGAGCGAGCGGTACTT	0.597000														94			29		0	0	0.001512	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805845	44805845	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44805845C>T	uc003tlr.3	+	16	2448	c.2325C>T	c.(2323-2325)acC>acT	p.T775T	ZMIZ2_uc003tlq.3_Silent_p.T717T|ZMIZ2_uc003tls.3_Silent_p.T749T|ZMIZ2_uc003tlt.3_Silent_p.T398T|ZMIZ2_uc010kyj.3_Silent_p.T297T|ZMIZ2_uc003tlu.3_Silent_p.T56T|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	775	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGAGTTCACCCCGGGACCAC	0.622000														58			20		0	0	0.001523	0	0
KRT15	3866	broad.mit.edu	37	17	39673111	39673111	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39673111C>T	uc002hwy.3	-	2	878	c.687G>A	c.(685-687)caG>caA	p.Q229Q	KRT15_uc002hwz.3_Silent_p.Q131Q|KRT15_uc002hxa.3_Silent_p.Q64Q|KRT15_uc002hxb.1_Silent_p.Q64Q	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	229	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGCCCTCGATCTGCATCTCCA	0.612000														65			25		0	0	0.005443	0	0
FAM86FP	653113	broad.mit.edu	37	12	8385149	8385149	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8385149G>A	uc010sgk.2	-	4		c.639C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CTCTCCGTAGGGAAACAGTTT	0.512000														179			47		0	0	0.003610	0	0
SPON1	10418	broad.mit.edu	37	11	14101552	14101552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:14101552C>T	uc001mle.3	+	5	926	c.658C>T	c.(658-660)Cca>Tca	p.P220S		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	221	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.H219N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAAGACACACCCAAAGGATTA	0.483000														21			16		0	0	0.001523	0	0
RNF152	220441	broad.mit.edu	37	18	59483682	59483682	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:59483682G>A	uc002lih.1	-	1	427	c.15C>T	c.(13-15)tcC>tcT	p.S5S	RNF152_uc021ula.1_Silent_p.S5S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	5					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GAGAGTCCTGGGACAGCGTCT	0.592000														129			39		0	0	0.002522	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399102	90399102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:90399102C>T	uc021opq.1	+	0	475	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S	LRRC8D_uc001dnm.3_Missense_Mutation_p.P159S|LRRC8D_uc001dnn.3_Missense_Mutation_p.P159S	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	159						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCTGGCCCTTCCGTGGTATTC	0.358000														16			6		0	0	0.001984	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217025	40217025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:40217025C>T	uc003ayg.3	-	4	1056	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	269										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CAAACTTCTTCTGCTTCTGAC	0.408000														26			4		0	0	0.000248	0	0
NR5A2	2494	broad.mit.edu	37	1	200017310	200017310	+	Silent	SNP	C	T	T	rs151039307		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200017310C>T	uc001gvb.3	+	4	680	c.474C>T	c.(472-474)gcC>gcT	p.A158A	NR5A2_uc001gvc.3_Silent_p.A112A|NR5A2_uc009wzh.3_Silent_p.A118A|NR5A2_uc010pph.2_Silent_p.A86A	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	158					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTGTAAGGGCCGACCGAATGC	0.463000														60			7		0	0	0.003080	0	0
C3orf72	401089	broad.mit.edu	37	3	138669176	138669176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:138669176G>A	uc003esx.1	+	2	421	c.290G>A	c.(289-291)gGg>gAg	p.G97E	AK304483_uc011bmr.2_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	97										large_intestine(1)|lung(3)	4						GCTCTACTAGGGAAGCGTCGC	0.687000														38			20		0	0	0.001523	0	0
C7orf58	79974	broad.mit.edu	37	7	120781060	120781060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:120781060G>A	uc003vjq.4	+	14	2326	c.1879G>A	c.(1879-1881)Ggg>Agg	p.G627R	C7orf58_uc003vjs.4_Missense_Mutation_p.G627R|C7orf58_uc003vjt.4_Missense_Mutation_p.G407R	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	627						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CGAGCAGGCAGGGCCAAGGTA	0.443000														3			3		0	0	0.000248	0	0
TTC22	55001	broad.mit.edu	37	1	55266487	55266488	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:55266487_55266488TC>AT	uc009vzt.1	-	0	454_455	c.349_350GA>AT	c.(349-351)gaa>ATa	p.E117I	TTC22_uc001cxz.4_Missense_Mutation_p.E117I	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	117							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CTCCTCCTCTTCTTCCTGGCCC	0.733000														4			7		0	0	0.004672	0	0
FAT1	2195	broad.mit.edu	37	4	187539951	187539951	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:187539951G>A	uc003izf.3	-	9	7977	c.7789C>T	c.(7789-7791)Cga>Tga	p.R2597*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2597	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R2597L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGTTGCTCGAAATTGTGGT	0.463000										HNSCC(5;0.00058)				11			13		0	0	0.001855	0	0
YBEY	54059	broad.mit.edu	37	21	47716086	47716087	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47716086_47716087CC>TT	uc002ziv.3	+	3	779_780	c.350_351CC>TT	c.(349-351)acc>aTT	p.T117I	YBEY_uc010gqh.3_Missense_Mutation_p.T29I|YBEY_uc002ziw.3_Missense_Mutation_p.T72I|YBEY_uc002zix.3_Missense_Mutation_p.T117I|YBEY_uc002ziy.3_Missense_Mutation_p.T74I	NM_058181	NP_478061	P58557	YBEY_HUMAN	Homo sapiens ybeY metallopeptidase (putative) (YBEY), transcript variant 1, mRNA.	117							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GTGACGGCCACCCACGGACTCT	0.619000														86			51		0	0	0.004672	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112666	148112666	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:148112666C>T	uc003weu.2	+	23	4470	c.3954C>T	c.(3952-3954)ttC>ttT	p.F1318F	CNTNAP2_uc003wev.2_Silent_p.F95F	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1318					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCCCAACTTCACAGAGACCA	0.542000										HNSCC(39;0.1)				38			33		0	0	0.006230	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964527	88964527	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:88964527A>T	uc011khi.2	+	3	2769	c.2231A>T	c.(2230-2232)aAa>aTa	p.K744I		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	744						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCTTCCATAAAAGAGAACAC	0.408000										HNSCC(36;0.09)				28			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179426177	179426177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179426177G>A	uc021vsy.1	-	274	77203	c.76978C>T	c.(76978-76980)Cgt>Tgt	p.R25660C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R19355C|TTN_uc021vta.1_Missense_Mutation_p.R19288C|TTN_uc021vtb.1_Missense_Mutation_p.R19163C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26587	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATATACACGATACTCATAC	0.408000														15			4		0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9066420	9066420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9066420G>A	uc002mkp.3	-	2	21230	c.21026C>T	c.(21025-21027)tCc>tTc	p.S7009F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7011	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTCTTGTGGATATTTCTGG	0.517000														86			22		0	0	0.004656	0	0
SNTG2	54221	broad.mit.edu	37	2	1168823	1168823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:1168823C>T	uc002qwq.3	+	7	674	c.545C>T	c.(544-546)cCc>cTc	p.P182L	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	182					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCCTCCTCTCCCCTCTTTGAC	0.478000														120			65		0	0	0.003610	0	0
DNMT1	1786	broad.mit.edu	37	19	10270523	10270523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10270523C>T	uc002mng.3	-	14	1297	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	DNMT1_uc010xlc.2_Missense_Mutation_p.D389N|DNMT1_uc002mnh.3_Missense_Mutation_p.D268N|DNMT1_uc010xld.2_Missense_Mutation_p.D373N	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	373	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CGTACCGCGTCTGGTGGGTGC	0.597000														155			128		0	0	0.003610	0	0
FLJ00322	0	broad.mit.edu	37	16	15023257	15023257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:15023257G>A	uc010uzk.2	+	5	1102	c.826G>A	c.(826-828)Gag>Aag	p.E276K	NPIP_uc002dcx.4_Non-coding_Transcript					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGTGCTCAACGAGGAGCCCCT	0.706000														19			12		0	0	0.003163	0	0
SLC35A5	55032	broad.mit.edu	37	3	112289432	112289432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:112289432C>T	uc003dze.3	+	3	520	c.275C>T	c.(274-276)tCt>tTt	p.S92F		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	92						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						AAGGAATTCTCTGATTTCATG	0.358000														69			29		0	0	0.005443	0	0
CEP350	9857	broad.mit.edu	37	1	180056805	180056805	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:180056805C>T	uc001gnt.3	+	31	6761	c.6378C>T	c.(6376-6378)tcC>tcT	p.S2126S	CEP350_uc009wxl.2_Silent_p.S2125S|CEP350_uc001gnv.3_Silent_p.S261S|CEP350_uc001gnw.1_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2126						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAACGCTCTCCTCAGCTTCTG	0.378000														8			14		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179640501	179640501	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179640501G>A	uc021vsy.1	-	27	6315	c.6090C>T	c.(6088-6090)ctC>ctT	p.L2030L	TTN_uc021vsz.1_Silent_p.L1984L|TTN_uc021vta.1_Silent_p.L1984L|TTN_uc021vtb.1_Silent_p.L1984L|TTN_uc002unb.2_Silent_p.L2030L|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2030							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCCTGAGGAGTTCCTCAT	0.443000														25			13		0	0	0.001368	0	0
NLRP10	338322	broad.mit.edu	37	11	7981462	7981462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:7981462G>A	uc001mfv.1	-	1	1714	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	566							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCATACAGGGAGAATTCCAA	0.363000														45			21		0	0	0.002780	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134765	119134765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:119134765C>T	uc003ecj.4	+	11	4521	c.3989C>T	c.(3988-3990)tCt>tTt	p.S1330F		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	1330					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.S1330F(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGCGACCATCTGGGGGTTCT	0.522000														37			12		0	0	0.001855	0	0
ABCC1	4363	broad.mit.edu	37	16	16138457	16138457	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:16138457C>T	uc010bvi.3	+	7	1135	c.960C>T	c.(958-960)acC>acT	p.T320T	ABCC1_uc010bvj.3_Silent_p.T320T|ABCC1_uc010bvk.3_Silent_p.T320T|ABCC1_uc010bvl.3_Silent_p.T320T|ABCC1_uc010bvm.3_Silent_p.T320T|ABCC1_uc002del.4_Silent_p.T204T|ABCC1_uc010bvn.3_Silent_p.T183T	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	320					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TATACAAGACCTTTGGGCCCT	0.512000														24			14		0	0	0.002450	0	0
ZNF700	90592	broad.mit.edu	37	19	12059149	12059149	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:12059149T>G	uc010xme.2	+	4	555	c.364T>G	c.(364-366)Ttt>Gtt	p.F122V	ZNF700_uc002msu.3_Missense_Mutation_p.F104V|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGGAGAAACTTTTACCCAGGT	0.393000														111			24		0	0	0.002299	0	0
TMEM80	283232	broad.mit.edu	37	11	700156	700156	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:700156C>T	uc010qwi.1	+	2	266	c.129C>T	c.(127-129)ccC>ccT	p.P43P	TMEM80_uc001lqr.3_Silent_p.P43P|TMEM80_uc001lqs.3_Silent_p.P35P	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN	Homo sapiens transmembrane protein 80 (TMEM80), transcript variant 2, mRNA.	43						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCAGTTCCCCTTCAAATGC	0.527000														82			46		0	0	0.003610	0	0
SPAG4	6676	broad.mit.edu	37	20	34208851	34208851	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:34208851G>A	uc002xdb.1	+	11	1338	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*	SPAG4_uc010zvi.1_Nonsense_Mutation_p.W330*	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	407	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TAAGCAACTGGGGCCACCCCC	0.592000														103			26		0	0	0.004656	0	0
ZNF587	84914	broad.mit.edu	37	19	58370674	58370674	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:58370674T>G	uc002qql.3	+	2	1120	c.894T>G	c.(892-894)tgT>tgG	p.C298W	ZNF587_uc002qqb.2_Missense_Mutation_p.C255W|ZNF587_uc002qqi.2_Missense_Mutation_p.C255W|ZNF587_uc010yhh.2_Missense_Mutation_p.C255W|ZNF587_uc021vco.1_Missense_Mutation_p.C298W|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Missense_Mutation_p.C297W|ZNF587_uc021vcq.1_5'Flank	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CTTATCCCTGTGAGGAGTGCG	0.463000														15			36		0	0	0.005524	0	0
ZNF708	7562	broad.mit.edu	37	19	21476172	21476172	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:21476172G>A	uc002npq.1	-	3	1794	c.1596C>T	c.(1594-1596)taC>taT	p.Y532Y	ZNF708_uc002npr.1_Silent_p.Y468Y|ZNF708_uc010ecs.1_Silent_p.Y468Y	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CTTCACATTTGTAGGGTTTCT	0.368000														21			11		0	0	0.000978	0	0
HMHA1	23526	broad.mit.edu	37	19	1079801	1079801	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1079801C>T	uc002lqz.1	+	11	1705	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	HMHA1_uc010xgd.1_Nonsense_Mutation_p.Q508*|HMHA1_uc010xge.1_Nonsense_Mutation_p.Q332*|HMHA1_uc002lra.1_Nonsense_Mutation_p.Q332*|HMHA1_uc002lrb.1_Nonsense_Mutation_p.Q375*|HMHA1_uc002lrc.1_Nonsense_Mutation_p.Q127*	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	492					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGATCCAGGAGGTCAT	0.692000														69			20		0	0	0.001882	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904075	56904075	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:56904075C>T	uc002ekd.4	+	4	698	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLC12A3_uc010ccm.3_Silent_p.F223F|SLC12A3_uc010ccn.3_Silent_p.F222F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	223					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCTCATTTTCGCTTTCGCCA	0.642000														68			16		0	0	0.004007	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255718	140255718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140255718G>A	uc003lic.2	+	0	788	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.E221K	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	236	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTAAACCAGAACTAACAGG	0.408000														83			41		0	0	0.007835	0	0
RELN	5649	broad.mit.edu	37	7	103214626	103214626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:103214626C>T	uc022ajr.1	-	29	4584	c.4424G>A	c.(4423-4425)gGa>gAa	p.G1475E	RELN_uc022ajq.1_Missense_Mutation_p.G1475E|RELN_uc010liz.3_Missense_Mutation_p.G1475E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1475					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTAAGTGTTCCACAGCCAGT	0.493000														61			16		0	0	0.006122	0	0
MUSK	4593	broad.mit.edu	37	9	113563219	113563219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:113563219G>A	uc022blv.1	+	14	2695	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R765Q|MUSK_uc022blu.1_Missense_Mutation_p.R755Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	854	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGTATTCACCGAATTCTGGAA	0.507000														17			12		0	0	0.001855	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957389	35957389	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:35957389C>A	uc003jjv.2	-	4	1169	c.976G>T	c.(976-978)Gga>Tga	p.G326*	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Nonsense_Mutation_p.G326*|UGT3A1_uc011cor.2_Nonsense_Mutation_p.G292*	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	326						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATCACTCCTTGAGGGAGG	0.507000														20			10		3.86212e-05	7.3094e-05	0.000673	1	0
SH3BGRL2	83699	broad.mit.edu	37	6	80406229	80406229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:80406229G>A	uc003piz.1	+	2	438	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like 2 (SH3BGRL2), mRNA.	87						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TGAATCCAAGGAAAGCAACAC	0.313000														17			9		0	0	0.000978	0	0
XIRP1	165904	broad.mit.edu	37	3	39229088	39229088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:39229088G>A	uc003cjk.2	-	1	2078	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S	XIRP1_uc003cji.3_Missense_Mutation_p.P617S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P617S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	617	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTGGCTGTGGGATCTGTGACC	0.602000														76			21		0	0	0.001882	0	0
C15orf63	25764	broad.mit.edu	37	15	44092774	44092774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:44092774G>A	uc001ztb.3	+	2	599	c.116G>A	c.(115-117)gGa>gAa	p.G39E	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_5'UTR|C15orf63_uc021skf.1_5'UTR|C15orf63_uc001ztg.1_5'UTR	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(1)|ovary(1)	3						TCAGTTGCCGGAAGTCGGCGT	0.627000														24			10		0	0	0.006214	0	0
ABI3BP	25890	broad.mit.edu	37	3	100469349	100469349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:100469349C>T	uc003dun.3	-	34	3303	c.3218G>A	c.(3217-3219)gGa>gAa	p.G1073E	ABI3BP_uc003duj.3_Missense_Mutation_p.G653E|ABI3BP_uc003duk.3_Missense_Mutation_p.G782E|ABI3BP_uc003dul.3_Missense_Mutation_p.G903E|ABI3BP_uc011bhd.2_Missense_Mutation_p.G1027E|ABI3BP_uc003dum.3_Missense_Mutation_p.G484E	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	1073						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTACCATTTTCCAGGAATTGT	0.378000														24			7		0	0	0.001984	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81051954	81051954	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:81051954C>T	uc001kaf.2	+	10	1370	c.798C>T	c.(796-798)atC>atT	p.I266I	ZMIZ1_uc001kag.2_Silent_p.I142I|ZMIZ1_uc001kah.1_Silent_p.I142I	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	266					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCATGGGCATCCCTCCGCACA	0.662000														10			85		0	0	0.003610	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387965	157387965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:157387965C>T	uc003wno.3	-	16	2582	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	PTPRN2_uc003wnp.3_Missense_Mutation_p.G804R|PTPRN2_uc003wnq.3_Missense_Mutation_p.G792R|PTPRN2_uc003wnr.3_Missense_Mutation_p.G783R|PTPRN2_uc011kwa.2_Missense_Mutation_p.G844R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	821	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCAGCGGTCCCTGGGTGGCG	0.517000														148			24		0	0	0.005443	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458880	45458880	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:45458880C>T	uc001rol.3	-	0		c.315G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CTCAGCTCTCCGTTTGGATGT	0.458000														3			4		0	0	0.000248	0	0
GPR63	81491	broad.mit.edu	37	6	97246840	97246840	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:97246840C>T	uc010kcl.3	-	2	1246	c.768G>A	c.(766-768)ctG>ctA	p.L256L	GPR63_uc003pou.3_Silent_p.L256L|GPR63_uc021zcy.1_Silent_p.L256L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	256						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACAGTATTACCAGGAAGGGTA	0.478000														3			28		0	0	0.001512	0	0
CHD8	57680	broad.mit.edu	37	14	21870196	21870196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:21870196C>T	uc001war.2	-	18	4047	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	CHD8_uc001was.2_Missense_Mutation_p.E1049K|CHD8_uc001wav.1_Missense_Mutation_p.E491K	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1328					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCAATGTCCTCTTCACAAAAC	0.418000														70			20		0	0	0.001882	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823675	45823675	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:45823675C>T	uc011bai.2	-	1	286	c.162G>A	c.(160-162)gaG>gaA	p.E54E	SLC6A20_uc011baj.2_Silent_p.E54E	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	54					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCGGCATTCCCTCCACGATAA	0.597000														28			16		0	0	0.006122	0	0
STK31	56164	broad.mit.edu	37	7	23809272	23809272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:23809272C>T	uc003sws.4	+	12	1677	c.1610C>T	c.(1609-1611)tCt>tTt	p.S537F	STK31_uc003swt.4_Missense_Mutation_p.S514F|STK31_uc011jze.2_Missense_Mutation_p.S537F|STK31_uc010kuq.3_Missense_Mutation_p.S514F	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	537							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGACCTATCTGTGGAAGGA	0.373000														38			12		0	0	0.003163	0	0
PPP6R3	55291	broad.mit.edu	37	11	68367958	68367958	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:68367958C>T	uc001onv.3	+	19	2455	c.2188C>T	c.(2188-2190)Ctg>Ttg	p.L730L	PPP6R3_uc001onw.3_Silent_p.L730L|PPP6R3_uc001ony.4_Silent_p.L701L|PPP6R3_uc001onx.3_Silent_p.L724L|PPP6R3_uc009ysh.3_Silent_p.L650L|PPP6R3_uc001onu.3_Silent_p.L650L|PPP6R3_uc010rqc.2_Silent_p.L498L|PPP6R3_uc010rqd.2_Silent_p.L413L|PPP6R3_uc001onz.3_Silent_p.L58L|PPP6R3_uc001ooa.3_Silent_p.L180L	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	730					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACGTCTTCCCTGAGGTGAGC	0.522000														24			9		0	0	0.004482	0	0
NR3C2	4306	broad.mit.edu	37	4	149357209	149357209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:149357209C>T	uc003ilj.4	-	1	1167	c.804G>A	c.(802-804)atG>atA	p.M268I	NR3C2_uc003ilk.4_Missense_Mutation_p.M268I|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	268	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTGAGGATTTCATGCTACTTA	0.498000														34			20		0	0	0.001523	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187640	6187640	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6187640C>T	uc002mef.1	+	12	1938	c.1711C>T	c.(1711-1713)Ctg>Ttg	p.L571L	ACSBG2_uc002mee.1_Silent_p.L384L|ACSBG2_uc002meg.1_Silent_p.L571L|ACSBG2_uc002meh.1_Silent_p.L571L|ACSBG2_uc002mei.1_Silent_p.L521L|ACSBG2_uc010xiz.1_Intron	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	571					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGAGAACCTCTGGACAAGCT	0.587000														25			9		0	0	0.004482	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994676	144994676	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:144994676T>C	uc021ouh.1	-	0	358	c.56A>G	c.(55-57)aAc>aGc	p.N19S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Missense_Mutation_p.N19S|PDE4DIP_uc001ell.2_Missense_Mutation_p.N22S|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Missense_Mutation_p.N85S|PDE4DIP_uc001elo.3_Missense_Mutation_p.N156S|PDE4DIP_uc001elw.4_Missense_Mutation_p.N19S|PDE4DIP_uc001elx.4_Missense_Mutation_p.N85S|PDE4DIP_uc001emd.2_Missense_Mutation_p.N19S|PDE4DIP_uc001emc.2_Missense_Mutation_p.N19S|PDE4DIP_uc001emg.2_Missense_Mutation_p.N19S|PDE4DIP_uc021oui.1_Missense_Mutation_p.N22S|PDE4DIP_uc021ouj.1_5'UTR|PDE4DIP_uc001emh.3_Missense_Mutation_p.N156S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	19					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGCTGAAGTTCTCCTTCTT	0.577000			T	PDGFRB	MPD									124			17		0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11648239	11648239	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11648239C>T	uc002gne.3	+	30	6305	c.6237C>T	c.(6235-6237)atC>atT	p.I2079I	DNAH9_uc010coo.3_Silent_p.I1373I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2079					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)		ATTTCAACATCCCCAAGATTG	0.597000														11			4		0	0	0.000248	0	0
KCNT2	343450	broad.mit.edu	37	1	196205198	196205198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:196205198C>T	uc001gtd.1	-	26	3274	c.3214G>A	c.(3214-3216)Gaa>Aaa	p.E1072K	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E1005K|KCNT2_uc001gtf.1_Missense_Mutation_p.E1048K|KCNT2_uc001gtg.1_Non-coding_Transcript	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1072						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCATTCATTTCATCTAGAAGA	0.333000														95			80		0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56481919	56481919	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:56481919C>T	uc002qmh.3	+	5	2462	c.2391C>T	c.(2389-2391)gaC>gaT	p.D797D	NLRP8_uc010etg.3_Silent_p.D797D	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	797						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGTTGGAAGACTGCTTGGCCA	0.463000														64			23		0	0	0.002780	0	0
NCALD	83988	broad.mit.edu	37	8	102705022	102705022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:102705022C>T	uc003yke.3	-	2	850	c.481G>A	c.(481-483)Gac>Aac	p.D161N	NCALD_uc003ykf.3_Missense_Mutation_p.D161N|NCALD_uc003ykg.3_Missense_Mutation_p.D161N|NCALD_uc003ykh.3_Missense_Mutation_p.D161N|NCALD_uc003yki.3_Missense_Mutation_p.D161N|NCALD_uc003ykj.3_Missense_Mutation_p.D161N|NCALD_uc003ykk.3_Missense_Mutation_p.D161N|NCALD_uc003ykl.3_Missense_Mutation_p.D161N	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	161	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTCCTACCGTCTCTATTGGTG	0.507000														68			13		0	0	0.002450	0	0
SCN10A	6336	broad.mit.edu	37	3	38770273	38770273	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38770273G>A	uc003ciq.3	-	14	2400	c.2400C>T	c.(2398-2400)gtC>gtT	p.V800V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	800					sensory perception	voltage-gated sodium channel complex		p.F799L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAGCAAAGACAAAGACAA	0.532000														52			16		0	0	0.001882	0	0
ZNF831	128611	broad.mit.edu	37	20	57766181	57766181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:57766181C>T	uc002yan.3	+	0	107	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	36	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCACCTGACCCTGGGCCCT	0.711000														38			37		0	0	0.004878	0	0
DTX1	1840	broad.mit.edu	37	12	113533184	113533184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:113533184C>T	uc001tuk.1	+	7	1939	c.1603C>T	c.(1603-1605)Cac>Tac	p.H535Y		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	535					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.R534H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATTCCCTCGCCACTGCTATCT	0.607000														58			18		0	0	0.001523	0	0
OR10G7	390265	broad.mit.edu	37	11	123909348	123909348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:123909348G>A	uc001pzq.1	-	0	361	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCAGGTAGCGATCATAGGAC	0.572000														25			14		0	0	0.003163	0	0
ABCG1	9619	broad.mit.edu	37	21	43708164	43708164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:43708164G>A	uc011aev.2	+	8	1246	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	ABCG1_uc002zam.3_Intron|ABCG1_uc002zan.3_Intron|ABCG1_uc002zao.3_Intron|ABCG1_uc002zap.3_Intron|ABCG1_uc002zaq.3_Missense_Mutation_p.R380Q|ABCG1_uc002zar.3_Intron|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	380					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CAGACAAAACGATTAAAGGGG	0.557000														138			38		0	0	0.006999	0	0
EDA	1896	broad.mit.edu	37	X	68836180	68836180	+	Missense_Mutation	SNP	G	A	A	rs41539891		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:68836180G>A	uc004dxs.3	+	0	270	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	EDA_uc011mpj.2_Missense_Mutation_p.E10K|EDA_uc004dxr.3_Missense_Mutation_p.E10K|EDA_uc004dxm.1_Missense_Mutation_p.E10K|EDA_uc004dxn.1_Missense_Mutation_p.E10K|EDA_uc004dxp.1_Missense_Mutation_p.E10K|EDA_uc004dxq.1_Missense_Mutation_p.E10K	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	10					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GGAGCGCAGGGAACTCCTGCC	0.721000														24			6		0	0	0.001168	0	0
ACSM1	116285	broad.mit.edu	37	16	20638577	20638577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20638577C>T	uc002dhm.1	-	9	1429	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	ACSM1_uc002dhn.1_Splice_Site|ACSM1_uc010bwg.1_Missense_Mutation_p.G454D	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	454					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATCCATCTTACCTCTGTCCCC	0.498000														146			37		0	0	0.006230	0	0
WDR64	128025	broad.mit.edu	37	1	241901671	241901671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:241901671C>T	uc001hzg.2	+	9	1378	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	WDR64_uc021plh.1_Missense_Mutation_p.R185W|WDR64_uc021pli.1_Missense_Mutation_p.R111W	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	391										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCAGGTTTTCCGGGTGTGGGA	0.388000														14			6		0	0	0.004482	0	0
ABCA4	24	broad.mit.edu	37	1	94481381	94481381	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:94481381C>T	uc001dqh.3	-	36	5330	c.5226G>A	c.(5224-5226)gtG>gtA	p.V1742V	ABCA4_uc009wdp.1_Silent_p.V10V	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1742					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGATGCCCACCACCAGCCCAG	0.522000														14			7		0	0	0.003080	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106109168	106109168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:106109168C>T	uc004emo.3	+	15	2732	c.2567C>T	c.(2566-2568)tCt>tTt	p.S856F	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	856						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGGCTCATTCTGCAAATAAA	0.408000														73			60		0	0	0.003610	0	0
APEH	327	broad.mit.edu	37	3	49714101	49714101	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49714101C>T	uc010hkw.1	+	7	1204	c.804C>T	c.(802-804)ttC>ttT	p.F268F	APEH_uc003cxf.3_Silent_p.F268F	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	268					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGAGCCCTTCCGGTTGGGCA	0.597000														39			20		0	0	0.001882	0	0
OR4D5	219875	broad.mit.edu	37	11	123810559	123810559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:123810559C>T	uc001pzk.1	+	0	236	c.236C>T	c.(235-237)cCt>cTt	p.P79L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATCACAGCACCTAGGATGCTG	0.483000														33			14		0	0	0.002450	0	0
SNTG2	54221	broad.mit.edu	37	2	1161305	1161305	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:1161305T>C	uc002qwq.3	+	6	612	c.483T>C	c.(481-483)ttT>ttC	p.F161F	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	161					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGCCGGCATTTCTGAAGCTCC	0.453000														64			35		0	0	0.007835	0	0
CRX	1406	broad.mit.edu	37	19	48342956	48342956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:48342956C>T	uc002phq.4	+	3	836	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	211					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P211L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TATGGGTCTCCGAGCTCCTAT	0.677000														96			34		0	0	0.004289	0	0
GBA3	57733	broad.mit.edu	37	4	22749400	22749400	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:22749400A>T	uc003gqp.4	+	2	859	c.768A>T	c.(766-768)aaA>aaT	p.K256N	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.K257N	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	256					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TATTTGCTAAACCCATATTCA	0.448000														14			12		0	0	0.000978	0	0
DLEC1	9940	broad.mit.edu	37	3	38163998	38163998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38163998G>A	uc003chp.1	+	35	5260	c.5239G>A	c.(5239-5241)Ggg>Agg	p.G1747R	DLEC1_uc003cho.1_3'UTR|DLEC1_uc010hgv.1_3'UTR|DLEC1_uc003chr.1_3'UTR|DLEC1_uc003chs.1_Missense_Mutation_p.G304R	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	0					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CACAGACTTGGGGACCTGGGG	0.577000														26			12		0	0	0.001855	0	0
KANK2	25959	broad.mit.edu	37	19	11289126	11289126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11289126G>A	uc002mqm.3	-	3	1518	c.1439C>T	c.(1438-1440)cCa>cTa	p.P480L	KANK2_uc021upe.1_Intron|KANK2_uc002mqo.4_Intron|KANK2_uc002mqp.1_Intron	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	472										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGCCCGCCTGGAGGGGAGGA	0.672000														36			30		0	0	0.002096	0	0
C19orf21	126353	broad.mit.edu	37	19	761645	761645	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:761645G>A	uc002lpo.3	+	3	2015	c.1932G>A	c.(1930-1932)tcG>tcA	p.S644S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	644										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		TCAACCCCTCGGACGGTATCA	0.612000														72			23		0	0	0.002096	0	0
CLU	1191	broad.mit.edu	37	8	27456144	27456144	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:27456144G>A	uc003xfy.2	-	7	1353	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	CLU_uc003xfw.2_Silent_p.S391S|CLU_uc003xfx.2_Silent_p.S391S|CLU_uc003xfz.2_Silent_p.S391S	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	391					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CAGAAGTGTGGGAAGCCACCT	0.502000														87			29		0	0	0.001786	0	0
RP1	6101	broad.mit.edu	37	8	55537640	55537640	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55537640C>T	uc003xsd.1	+	3	1346	c.1198C>T	c.(1198-1200)Caa>Taa	p.Q400*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	400					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)			AAGCAGTAATCAAGAGGGCAG	0.443000														68			17		0	0	0.004990	0	0
MTTP	4547	broad.mit.edu	37	4	100540131	100540131	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:100540131G>A	uc011cej.2	+	16	2312	c.2299_splice	c.e16-1	p.E767_splice	MTTP_uc003hvc.4_Splice_Site_p.E740_splice	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	740					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTTCTTCTAGGAACTTCAGTT	0.363000														12			14		0	0	0.002450	0	0
RFX2	5990	broad.mit.edu	37	19	6016274	6016274	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6016274C>T	uc002meb.3	-	6	875	c.606G>A	c.(604-606)tgG>tgA	p.W202*	RFX2_uc002mec.3_Nonsense_Mutation_p.W177*	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TATCCAACAGCCACTGGAGCT	0.488000														45			33		0	0	0.006230	0	0
MST1P9	11223	broad.mit.edu	37	1	17085051	17085051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17085051C>T	uc010ock.2	-	10	1424	c.1424G>A	c.(1423-1425)aGg>aAg	p.R475K	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R49K					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCGATCCACCCTCTTGCCACA	0.602000														53			9		0	0	0.002450	0	0
C9orf106	414318	broad.mit.edu	37	9	132084151	132084151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:132084151C>T	uc004bxs.2	+	1	112	c.59C>T	c.(58-60)gCc>gTc	p.A20V		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	Homo sapiens chromosome 9 open reading frame 106 (C9orf106), mRNA.	20										large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				GGCGAGGAAGcctgcagctcc	0.632000														22			7		0	0	0.001984	0	0
OPN1LW	5956	broad.mit.edu	37	X	153420166	153420166	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153420166C>T	uc004fjz.4	+	3	729	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	232					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCATCCCACTCGCTATCATCA	0.602000														238			81		0	0	0.003610	0	0
RASSF6	166824	broad.mit.edu	37	4	74477518	74477518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74477518C>T	uc003hhd.1	-	1	214	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	31					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCATCTTTTCCTCCTTTTTG	0.333000														30			25		0	0	0.007291	0	0
MCCC2	64087	broad.mit.edu	37	5	70942103	70942103	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:70942103T>A	uc003kbs.4	+	13	1354	c.1216_splice	c.e13+1	p.G406_splice	MCCC2_uc003kbt.4_Splice_Site	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	406	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AAAACATTACTGGTAAGAAAA	0.368000														8			15		0	0	0.004990	0	0
C1orf51	148523	broad.mit.edu	37	1	150258849	150258849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150258849C>T	uc001euj.3	+	4	1090	c.641C>T	c.(640-642)cCa>cTa	p.P214L	C1orf51_uc001euh.3_Missense_Mutation_p.P214L|C1orf51_uc001eui.3_Missense_Mutation_p.P126L	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	214										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGCATTTTCCAAGCCACCAC	0.448000														128			17		0	0	0.007413	0	0
OR2T33	391195	broad.mit.edu	37	1	248436624	248436624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248436624G>A	uc010pzi.2	-	0	493	c.493C>T	c.(493-495)Cca>Tca	p.P165S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P165Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACAATATGGGAAGCTCAGG	0.562000														60			12		0	0	0.001855	0	0
PRKAR1B	5575	broad.mit.edu	37	7	750993	750993	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:750993G>A	uc003siu.2	-	1	283	c.150C>T	c.(148-150)ctC>ctT	p.L50L	PRKAR1B_uc021zyi.1_Silent_p.L50L|PRKAR1B_uc003siv.3_Silent_p.L50L|PRKAR1B_uc021zyj.1_Silent_p.L50L|PRKAR1B_uc021zyk.1_Silent_p.L50L|PRKAR1B_uc003siw.2_Silent_p.L50L	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	50	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGTGCTCCCGGAGGAACTTCA	0.642000														112			36		0	0	0.005524	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870877	12870877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:12870877C>T	uc001rat.2	+	0	576	c.104C>T	c.(103-105)cCg>cTg	p.P35L		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	35					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CTCTTCGGCCCGGTGGACCAC	0.592000														41			85		0	0	0.003610	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:52603882C>T	uc001jjj.3	-	4	288	c.100_splice	c.e4-1	p.E34_splice	A1CF_uc010qho.2_Splice_Site_p.E42_splice|A1CF_uc010qhn.2_Splice_Site_p.E42_splice|A1CF_uc009xov.3_Splice_Site_p.E34_splice|A1CF_uc001jji.3_Splice_Site_p.E34_splice|A1CF_uc001jjh.3_Splice_Site_p.E42_splice|A1CF_uc001jjk.1_Splice_Site_p.E34_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000														1			13		0	0	0.003163	0	0
BEX1	55859	broad.mit.edu	37	X	102318093	102318094	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:102318093_102318094GG>TT	uc022cbj.1	-	0	109_110	c.109_110CC>AA	c.(109-111)cct>AAt	p.P37N	BEX1_uc004ejt.1_Missense_Mutation_p.P37N	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	37					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						AGCATCCAAAGGGAGGGCCAAG	0.480000														334			10		0	0	0.004672	0	0
SPEG	10290	broad.mit.edu	37	2	220352923	220352924	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220352923_220352924CC>TT	uc010fwg.3	+	31	7749_7750	c.7749_7750CC>TT	c.(7747-7752)ccccca>ccTTca	p.P2584S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2584	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGACTTCCCCCCAGTCTTCCA	0.614000														104			42		0	0	0.004672	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454144	84454144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:84454144C>T	uc001vlk.3	-	0	2385	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	500						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTGTGCAGGCTGAGTTTAGA	0.547000														13			29		0	0	0.002096	0	0
GPR112	139378	broad.mit.edu	37	X	135482077	135482077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135482077G>A	uc004ezu.1	+	20	8668	c.8377G>A	c.(8377-8379)Gta>Ata	p.V2793I	GPR112_uc010nsb.1_Missense_Mutation_p.V2588I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2793					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTAAACCTGGTATTTTTGAT	0.378000														51			19		0	0	0.001216	0	0
LRRC4	64101	broad.mit.edu	37	7	127669172	127669172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:127669172C>T	uc003vmk.3	-	1	1659	c.1522G>A	c.(1522-1524)Gcg>Acg	p.A508T	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.A508T	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	508	Thr-rich.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GTGTCTGTCGCGGGTACTGCC	0.557000														35			46		0	0	0.003610	0	0
CHST4	10164	broad.mit.edu	37	16	71571108	71571108	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71571108C>T	uc021tkt.1	+	0	528	c.528C>T	c.(526-528)ctC>ctT	p.L176L	CHST4_uc002fan.3_Silent_p.L176L|CHST4_uc002fao.3_Silent_p.L176L	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	176					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACGTGGTGCTCAAGGAGGTGC	0.622000														19			6		0	0	0.003080	0	0
DCN	1634	broad.mit.edu	37	12	91546958	91546958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:91546958G>A	uc001tbt.3	-	5	915	c.661C>T	c.(661-663)Cct>Tct	p.P221S	DCN_uc001tbo.3_Missense_Mutation_p.P112S|DCN_uc001tbp.3_Missense_Mutation_p.P74S|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.P221S	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	221					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTAAGGGAAGGAGGAAGACCT	0.343000														42			13		0	0	0.002450	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472495	47472495	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:47472495G>A	uc001rpm.3	-	2	946	c.291C>T	c.(289-291)acC>acT	p.T97T	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.T97T|AMIGO2_uc001rpl.3_Silent_p.T97T|AMIGO2_uc021qxg.1_Silent_p.T97T	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	97					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GAAGAATTAGGGTGTTCAGCT	0.418000														97			43		0	0	0.003610	0	0
PHKA1	5255	broad.mit.edu	37	X	71825148	71825148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:71825148C>T	uc004eax.4	-	24	3089	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	PHKA1_uc004eay.4_Missense_Mutation_p.E930K|PHKA1_uc011mqi.2_Missense_Mutation_p.E871K	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	930					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGGGCCAGTTCTGTTGCCATA	0.393000														6			6		0	0	0.001168	0	0
CD84	8832	broad.mit.edu	37	1	160535278	160535278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:160535278C>T	uc001fwh.4	-	1	383	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CD84_uc001fwf.4_Missense_Mutation_p.E102K|CD84_uc009wtn.3_Missense_Mutation_p.E102K|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.E102K|CD84_uc001fwj.3_Missense_Mutation_p.E102K|CD84_uc001fwk.3_Missense_Mutation_p.E102K	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	102					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.M101_E102>I*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCGTCTTCCATCCTCAGA	0.458000														25			21		0	0	0.002780	0	0
PLCE1	51196	broad.mit.edu	37	10	96058176	96058176	+	Silent	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:96058176T>G	uc001kjk.3	+	23	5842	c.5208T>G	c.(5206-5208)tcT>tcG	p.S1736S	PLCE1_uc010qnx.2_Silent_p.S1720S|PLCE1_uc001kjm.3_Silent_p.S1428S|PLCE1_uc001kjp.3_Silent_p.S94S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1736	PI-PLC Y-box.|Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGGAATCTTCTTCCCCTCTCA	0.443000														9			9		0	0	0.000978	0	0
MAD1L1	8379	broad.mit.edu	37	7	2054255	2054255	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:2054255A>G	uc003slh.1	-	12	1507	c.1241T>C	c.(1240-1242)aTc>aCc	p.I414T	MAD1L1_uc003sle.1_Missense_Mutation_p.I143T|MAD1L1_uc003slf.1_Missense_Mutation_p.I414T|MAD1L1_uc003slg.1_Missense_Mutation_p.I414T|MAD1L1_uc010ksh.1_Missense_Mutation_p.I414T|MAD1L1_uc003sli.1_Missense_Mutation_p.I322T|MAD1L1_uc010ksi.1_Missense_Mutation_p.I367T|MAD1L1_uc010ksj.3_Missense_Mutation_p.I414T	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	414	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GGACCCCAGGATGGCCCGCAT	0.662000														21			18		0	0	0.001216	0	0
LLGL2	3993	broad.mit.edu	37	17	73565333	73565333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:73565333C>T	uc002joh.3	+	13	1662	c.1508C>T	c.(1507-1509)cCc>cTc	p.P503L	LLGL2_uc002joi.3_Missense_Mutation_p.P503L|LLGL2_uc010dgg.2_Missense_Mutation_p.P503L|LLGL2_uc002joj.3_Missense_Mutation_p.P492L|LLGL2_uc010wsd.2_Missense_Mutation_p.P130L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	503					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.D502N(1)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTGATGACCCCCGGCTGGGC	0.672000														67			38		0	0	0.002522	0	0
FNDC1	84624	broad.mit.edu	37	6	159655317	159655317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:159655317C>T	uc010kjv.3	+	10	3973	c.3773C>T	c.(3772-3774)cCt>cTt	p.P1258L	FNDC1_uc010kjw.1_Missense_Mutation_p.P1143L	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1258						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCACGTCCCTTCCCGACTG	0.741000														4			7		0	0	0.001984	0	0
UROC1	131669	broad.mit.edu	37	3	126216955	126216955	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:126216955C>T	uc010hsi.2	-	14	1611	c.1557G>A	c.(1555-1557)caG>caA	p.Q519Q	UROC1_uc003eiz.2_Silent_p.Q459Q	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	459					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCGCCAGGTCCTGGGGGTCCC	0.637000														90			120		0	0	0.003610	0	0
KLK15	55554	broad.mit.edu	37	19	51329071	51329071	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51329071T>C	uc002ptl.3	-	4	783	c.752A>G	c.(751-753)gAa>gGa	p.E251G	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Missense_Mutation_p.E166G|KLK15_uc002ptn.3_3'UTR|KLK15_uc002pto.3_Missense_Mutation_p.E250G|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_3'UTR|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	251	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)		CTTCATGGTTTCCCTGATCCA	0.557000														54			25		0	0	0.001512	0	0
CYFIP1	23191	broad.mit.edu	37	15	22928507	22928507	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:22928507C>T	uc001yus.3	+	4	488	c.384C>T	c.(382-384)ttC>ttT	p.F128F	CYFIP1_uc001yut.3_Silent_p.F128F|CYFIP1_uc010aya.1_Silent_p.F156F	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	128					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCATGTACTTCCAGGTAAAAT	0.493000														130			34		0	0	0.002445	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20586035	20586035	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:20586035G>A	uc002wrz.3	-	14	1965	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	RALGAPA2_uc002wry.3_Nonsense_Mutation_p.R223*|RALGAPA2_uc010zsg.2_Nonsense_Mutation_p.R9*	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	608					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGGTTTGCTCGGATCCAAGCT	0.423000														5			8		0	0	0.003080	0	0
IRAK3	11213	broad.mit.edu	37	12	66597523	66597523	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:66597523C>G	uc001sth.3	+	1	268	c.166C>G	c.(166-168)Cgt>Ggt	p.R56G	IRAK3_uc010ssy.2_Intron	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	56	Death.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTGGATGTTCGTCATATTGA	0.368000														17			3		0	0	0.004672	0	0
SYT1	6857	broad.mit.edu	37	12	79693302	79693302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:79693302C>T	uc001sys.3	+	8	1452	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	SYT1_uc001syt.3_Missense_Mutation_p.R261C|SYT1_uc001syu.3_Missense_Mutation_p.R258C|SYT1_uc001syv.3_Missense_Mutation_p.R261C	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	261	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAGGAATGGCGTGACCTGCA	0.403000														40			14		0	0	0.003163	0	0
PEG3	5178	broad.mit.edu	37	19	57327766	57327766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57327766C>T	uc002qnu.2	-	6	2395	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E653K|PEG3_uc002qnv.2_Missense_Mutation_p.E682K|PEG3_uc002qnw.2_Missense_Mutation_p.E558K|PEG3_uc002qnx.2_Missense_Mutation_p.E556K|PEG3_uc010etr.2_Missense_Mutation_p.E682K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	682					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGAGCTTCTCCTTATTGTAA	0.438000														33			7		0	0	0.001984	0	0
UTP20	27340	broad.mit.edu	37	12	101759317	101759317	+	Silent	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:101759317A>C	uc001tia.1	+	45	6195	c.6039A>C	c.(6037-6039)gtA>gtC	p.V2013V		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2013					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GATTAATTGTAAATCAGGAAA	0.358000														5			27		0	0	0.004656	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:4491791C>T	uc002mao.3	+	5	730	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HDGFRP2_uc002map.3_Missense_Mutation_p.R213W|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGCAGCGGTCCGGGCGCCACG	0.627000														93			79		0	0	0.003610	0	0
C9orf152	401546	broad.mit.edu	37	9	112969850	112969850	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:112969850A>G	uc011lwk.2	-	0	564	c.10T>C	c.(10-12)Ttg>Ctg	p.L4L		NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	4										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGGCAGGGCAACCCCTCCATC	0.647000														11			7		0	0	0.001984	0	0
CT47B1	643311	broad.mit.edu	37	X	120009405	120009405	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:120009405G>A	uc011muc.2	-	0	375	c.120C>T	c.(118-120)ccC>ccT	p.P40P		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	40										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGCTGCTGTCGGGGCCGGAGT	0.741000														104			49		0	0	0.003610	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882720	143882720	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143882720G>A	uc010lpc.3	+	0	2173	c.2124G>A	c.(2122-2124)gtG>gtA	p.V708V		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	708	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						TGTTTCCAGTGGATACAAGGG	0.512000														563			37		0	0	0.003610	0	0
OR8H3	390152	broad.mit.edu	37	11	55890508	55890508	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55890508C>T	uc001nii.1	+	0	660	c.660C>T	c.(658-660)tcC>tcT	p.S220S		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V219V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CCTATGTGTCCATTCTCTCTA	0.433000														15			20		0	0	0.002780	0	0
TLE2	7089	broad.mit.edu	37	19	3011136	3011136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3011136G>A	uc010dth.3	-	11	1162	c.899C>T	c.(898-900)cCt>cTt	p.P300L	TLE2_uc010xhb.2_Silent_p.L8L|TLE2_uc002lww.3_Missense_Mutation_p.P299L|TLE2_uc010xhc.2_Missense_Mutation_p.P177L|TLE2_uc010dti.3_Missense_Mutation_p.P313L|TLE2_uc010xhd.1_Missense_Mutation_p.P207L	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	299	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TTTGGAGGCAGGAGTGCTGGC	0.632000														45			5		0	0	0.003080	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121779	38121779	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:38121779G>A	uc003atr.3	+	6	3487	c.3216G>A	c.(3214-3216)cgG>cgA	p.R1072R	TRIOBP_uc003atu.3_Silent_p.R900R|TRIOBP_uc003atq.1_Silent_p.R1072R|TRIOBP_uc003ats.1_Silent_p.R900R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1072					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATGCCCCCCGGGCGTCCTCGC	0.652000														10			59		0	0	0.003610	0	0
LNX1	84708	broad.mit.edu	37	4	54347998	54347998	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:54347998G>A	uc003hag.4	-	6	1630	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Silent_p.L362L|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	458	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGGACACGACGAGGTGAACAC	0.577000														18			12		0	0	0.003163	0	0
VSIG2	23584	broad.mit.edu	37	11	124619677	124619677	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124619677C>T	uc001qas.3	-	3	589	c.513G>A	c.(511-513)ggG>ggA	p.G171G	VSIG2_uc001qat.3_Silent_p.G171G	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	171	Ig-like C2-type.					integral to plasma membrane|membrane fraction		p.E170K(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCTTAGGAGCCCCCTCGGAAG	0.527000														73			33		0	0	0.003755	0	0
VPS13C	54832	broad.mit.edu	37	15	62228916	62228916	+	Missense_Mutation	SNP	T	A	A	rs35069516		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:62228916T>A	uc002agz.3	-	47	5726	c.5635A>T	c.(5635-5637)Atg>Ttg	p.M1879L	VPS13C_uc002aha.3_Missense_Mutation_p.M1836L|VPS13C_uc002ahb.2_Missense_Mutation_p.M1879L|VPS13C_uc002ahc.2_Missense_Mutation_p.M1836L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1879					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAATTTTCATTAAAACTGTC	0.348000														33			19		0	0	0.007413	0	0
ARSF	416	broad.mit.edu	37	X	3007547	3007547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:3007547G>A	uc022brz.1	+	6	977	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ARSF_uc004cre.2_Missense_Mutation_p.E281K|ARSF_uc004crf.2_Missense_Mutation_p.E281K	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	281						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACAGTAAGGAAACTTTCCT	0.428000														56			23		0	0	0.004656	0	0
FLCN	201163	broad.mit.edu	37	17	17122419	17122419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17122419G>A	uc002gra.4	-	8	1480	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	PLD6_uc010cpn.3_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	326					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACTCTGCCGGGCCCTGGGTC	0.622000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					82			115		0	0	0.003610	0	0
IFT140	9742	broad.mit.edu	37	16	1633346	1633346	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1633346G>A	uc002cmb.3	-	11	1763	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	IFT140_uc002clz.3_Silent_p.F118F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	467										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGAAAGCTCGAAGATCGCCA	0.552000														40			29		0	0	0.004878	0	0
MSLN	10232	broad.mit.edu	37	16	812709	812709	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:812709T>C	uc002cjw.2	+	1	140	c.29T>C	c.(28-30)tTg>tCg	p.L10S	MSLN_uc002cju.1_Missense_Mutation_p.L10S|MSLN_uc002cjt.1_Missense_Mutation_p.L10S|MSLN_uc010brd.1_Missense_Mutation_p.L10S	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	10				PTARPLLG -> QRLDPCW (in Ref. 2; AAC50348).	cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CGACCCCTGTTGGGGTCCTGT	0.682000														89			56		0	0	0.003610	0	0
HSPG2	3339	broad.mit.edu	37	1	22175269	22175269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:22175269G>A	uc009vqd.3	-	58	7647	c.7607C>T	c.(7606-7608)cCc>cTc	p.P2536L	HSPG2_uc001bfj.3_Missense_Mutation_p.P2535L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2535	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GATGCGGACGGGGTACGCCAC	0.642000														31			19		0	0	0.001882	0	0
JUP	3728	broad.mit.edu	37	17	39923829	39923829	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39923829G>A	uc002hxq.2	-	4	988	c.711C>T	c.(709-711)tcC>tcT	p.S237S	JUP_uc010wfs.2_Silent_p.S237S|JUP_uc002hxr.2_Silent_p.S237S|JUP_uc002hxs.2_Silent_p.S237S	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	237					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACTCCACAGGGGAGCTGGGGG	0.667000														26			10		0	0	0.000673	0	0
RIC3	79608	broad.mit.edu	37	11	8159883	8159883	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:8159883C>T	uc010rbm.1	-	2	417	c.363G>A	c.(361-363)ggG>ggA	p.G121G	RIC3_uc001mgb.2_5'UTR|RIC3_uc010rbl.1_Silent_p.G71G|RIC3_uc001mgd.2_Silent_p.G121G|RIC3_uc001mgc.2_Silent_p.G121G|RIC3_uc009yfm.2_Silent_p.G121G|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	121						Golgi membrane|endoplasmic reticulum membrane|integral to membrane		p.K120N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTTGTTTTCCCCTTTGAGA	0.438000														60			68		0	0	0.003610	0	0
CKAP5	9793	broad.mit.edu	37	11	46772099	46772099	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:46772099G>A	uc001ndi.2	-	40	5649	c.5523C>T	c.(5521-5523)ggC>ggT	p.G1841G	CKAP5_uc009ylg.1_Silent_p.G1734G|CKAP5_uc001ndj.2_Silent_p.G1781G|CKAP5_uc001ndh.1_Silent_p.G770G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1841					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTTCTTTAGAGCCAATCTTCT	0.383000														10			5		0	0	0.001984	0	0
TNNI2	7136	broad.mit.edu	37	11	1862079	1862079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1862079G>A	uc021qbv.1	+	4	239	c.217G>A	c.(217-219)Gat>Aat	p.D73N	TNNI2_uc021qbt.1_Missense_Mutation_p.D52N|TNNI2_uc021qbu.1_Missense_Mutation_p.D52N|TNNI2_uc010qxe.1_Missense_Mutation_p.D73N	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	73					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGCCAAGATCGATGCGGCTGA	0.672000														33			13		0	0	0.001855	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080932	148080932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:148080932C>T	uc003weu.2	+	21	4183	c.3667C>T	c.(3667-3669)Ccc>Tcc	p.P1223S	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1223					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACCCTCTCCCCCATGTCGTC	0.602000										HNSCC(39;0.1)				37			10		0	0	0.002450	0	0
OPRK1	4986	broad.mit.edu	37	8	54142015	54142015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:54142015G>A	uc003xrh.1	-	2	1360	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	OPRK1_uc022aup.1_Missense_Mutation_p.L209F|OPRK1_uc003xri.1_Missense_Mutation_p.L329F|OPRK1_uc010lyc.1_Missense_Mutation_p.L240F	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	329					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AAGGCGTAGAGAATGGGATTC	0.527000														22			5		0	0	0.001168	0	0
EGFR	1956	broad.mit.edu	37	7	55211105	55211105	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:55211105C>T	uc003tqk.3	+	2	594	c.348C>T	c.(346-348)tcC>tcT	p.S116S	EGFR_uc003tqh.3_Silent_p.S116S|EGFR_uc003tqi.3_Silent_p.S116S|EGFR_uc003tqj.3_Silent_p.S116S|EGFR_uc022adm.1_Silent_p.S116S|EGFR_uc010kzg.2_Silent_p.S116S|EGFR_uc022adn.1_Silent_p.S116S|EGFR_uc011kco.2_Silent_p.S63S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	116					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACGAAAATTCCTATGCCTTAG	0.458000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				117			27		0	0	0.003954	0	0
PRRG3	79057	broad.mit.edu	37	X	150868529	150868529	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:150868529C>T	uc022cgt.1	+	2	118	c.69C>T	c.(67-69)ttC>ttT	p.F23F	PRRG3_uc004few.2_Silent_p.F23F	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	23	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATGAGTTCCTGGAGGAGC	0.557000														71			29		0	0	0.002836	0	0
LCK	3932	broad.mit.edu	37	1	32742380	32742380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32742380G>A	uc001bux.3	+	8	1095	c.957G>A	c.(955-957)atG>atA	p.M319I	LCK_uc001buy.3_Missense_Mutation_p.M319I|LCK_uc001buz.3_Missense_Mutation_p.M319I|LCK_uc010ohc.1_Missense_Mutation_p.M363I|LCK_uc001bva.3_Missense_Mutation_p.M326I	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	319	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTGAATACATGGAGAATGGTG	0.577000			T	TRB@	T-ALL									0			14		0	0	0.002450	0	0
C17orf103	256302	broad.mit.edu	37	17	21147522	21147522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:21147522G>A	uc010vzx.2	-	2	121	c.119C>T	c.(118-120)gCc>gTc	p.A40V		NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN	Homo sapiens chromosome 17 open reading frame 103 (C17orf103), mRNA.	41										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GAGCAGGACGGCCCGGTCATG	0.622000														21			6		0	0	0.001168	0	0
OMD	4958	broad.mit.edu	37	9	95179324	95179324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:95179324C>T	uc004asd.4	-	1	886	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	Homo sapiens osteomodulin (OMD), mRNA.	173					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TTGGAGATTTCATTGTAACCA	0.353000			T	USP6	aneurysmal bone cysts									11			9		0	0	0.006214	0	0
CDH11	1009	broad.mit.edu	37	16	64981872	64981872	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:64981872G>A	uc002eoi.3	-	12	2459	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Silent_p.A549A	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	675					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAATATCAAAGGCTTCTGTGT	0.458000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				57			67		0	0	0.003610	0	0
MAGT1	84061	broad.mit.edu	37	X	77112285	77112285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77112285C>T	uc004fof.3	-	4	775	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MAGT1_uc004fog.4_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	206					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ATTACTTCTTCGAAGATACAC	0.358000														72			34		0	0	0.003271	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433159	72433159	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:72433159A>T	uc004ebi.3	-	0	1552	c.1170T>A	c.(1168-1170)ttT>ttA	p.F390L		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	390					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GACCAAGTAAAAAATCATCAT	0.373000														26			38		0	0	0.004289	0	0
CCNJL	79616	broad.mit.edu	37	5	159686764	159686764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:159686764G>A	uc003lyb.1	-	4	691	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CCNJL_uc011dee.1_Missense_Mutation_p.R99W|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Missense_Mutation_p.R99W	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	147	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTCTTCCCGATCCTCGAAC	0.557000														56			34		0	0	0.007835	0	0
MRPL27	51264	broad.mit.edu	37	17	48447414	48447414	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48447414G>A	uc002iqq.3	-	2	250	c.219C>T	c.(217-219)ttC>ttT	p.F73F	MRPL27_uc002iqr.2_Silent_p.F73F	NM_016504	NP_057588	Q9P0M9	RM27_HUMAN	Homo sapiens mitochondrial ribosomal protein L27 (MRPL27), nuclear gene encoding mitochondrial protein, mRNA.	73					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			GGTGCCAGCGGAAATGGCGCT	0.502000														42			20		0	0	0.001523	0	0
DOCK5	80005	broad.mit.edu	37	8	26221326	26221326	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:26221326C>T	uc003xeu.3	+	7	1221	c.892C>T	c.(892-894)Cga>Tga	p.R298*	DOCK5_uc003xek.3_Nonsense_Mutation_p.R299*|DOCK5_uc011laf.2_Nonsense_Mutation_p.R308*	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	714						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCATAGTGGTCGATATATGAT	0.353000														31			35		0	0	0.006230	0	0
DNAH2	146754	broad.mit.edu	37	17	7630551	7630551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:7630551C>T	uc002giu.1	+	2	354	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	DNAH2_uc002git.3_Missense_Mutation_p.L114F|DNAH2_uc010vuk.2_Missense_Mutation_p.L114F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	114	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAATCCATCCTCACCATCTT	0.542000														35			55		0	0	0.003610	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871792	8871792	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:8871792G>A	uc002qzc.2	-	29	4556	c.4374C>T	c.(4372-4374)atC>atT	p.I1458I	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.I1359I|KIDINS220_uc002qzb.2_Silent_p.I312I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1458					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGAATAATCGATAACATCTC	0.453000														37			86		0	0	0.003610	0	0
RAD18	56852	broad.mit.edu	37	3	8983456	8983456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:8983456G>A	uc003brd.3	-	4	389	c.299C>T	c.(298-300)cCa>cTa	p.P100L		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	100					DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		AGATTTGGCTGGTGACTCTAA	0.393000								Rad6 pathway						9			32		0	0	0.002445	0	0
THBS1	7057	broad.mit.edu	37	15	39886554	39886554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:39886554G>A	uc001zkh.3	+	20	3597	c.3418G>A	c.(3418-3420)Gat>Aat	p.D1140N	THBS1_uc010bbi.3_Missense_Mutation_p.D612N	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1140	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACCCATCTATGATAAAACCTA	0.388000														70			17		0	0	0.006122	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32096682	32096682	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:32096682T>C	uc001ivz.1	-	19	2715	c.2445A>G	c.(2443-2445)ccA>ccG	p.P815P	ARHGAP12_uc001ivy.1_Silent_p.P761P|ARHGAP12_uc009xls.2_Silent_p.P766P|ARHGAP12_uc001iwb.1_Silent_p.P808P|ARHGAP12_uc001iwc.1_Silent_p.P783P|ARHGAP12_uc009xlq.1_Silent_p.P736P|ARHGAP12_uc001ivw.1_Non-coding_Transcript|ARHGAP12_uc001ivx.1_Silent_p.P114P	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	815	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCTCTTTTTCTGGTTTTAATA	0.353000														12			12		0	0	0.002450	0	0
FAM73A	374986	broad.mit.edu	37	1	78324729	78324729	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:78324729C>A	uc010ork.2	+	8	1135	c.1103C>A	c.(1102-1104)tCc>tAc	p.S368Y	FAM73A_uc001dhx.3_Missense_Mutation_p.S368Y|FAM73A_uc010orl.2_Missense_Mutation_p.S330Y|FAM73A_uc001dhy.1_Missense_Mutation_p.S157Y	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	368						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AAAATTTACTCCAGAGTACTG	0.373000														20			11		4.3838e-07	8.32056e-07	0.001855	1	0
FLJ43860	389690	broad.mit.edu	37	8	142500263	142500263	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142500263G>A	uc003ywi.2	-	4	732	c.651C>T	c.(649-651)ttC>ttT	p.F217F	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	217							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTCTGTGTGGGAAGACGCCCG	0.642000														24			27		0	0	0.001512	0	0
OR6B2	389090	broad.mit.edu	37	2	240969589	240969589	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:240969589G>A	uc010zoc.2	-	0	258	c.258C>T	c.(256-258)ctC>ctT	p.L86L	OR6B2_uc002vyr.3_Silent_p.L86L	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCTGCTGGAGGAGGAAGCCCT	0.567000														73			18		0	0	0.003954	0	0
POLK	51426	broad.mit.edu	37	5	74865163	74865163	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:74865163A>G	uc003kdw.3	+	4	352	c.256_splice	c.e4-2	p.V86_splice	POLK_uc003kdx.3_Splice_Site|POLK_uc003kdy.3_Splice_Site|POLK_uc003kdz.2_Splice_Site_p.V86_splice|POLK_uc003kea.3_Splice_Site_p.V86_splice|POLK_uc003keb.3_Splice_Site_p.V86_splice|POLK_uc010izq.3_Splice_Site_p.V86_splice|POLK_uc003kec.3_Splice_Site|POLK_uc010izr.3_Splice_Site|POLK_uc010izs.3_Splice_Site|POLK_uc003ked.3_Splice_Site|POLK_uc003kee.3_Splice_Site_p.V86_splice	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	86					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAAAAAATTAAGGTTGACAGA	0.313000								DNA polymerases (catalytic subunits)						2			4		0	0	0.000248	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160728972	160728972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:160728972C>T	uc002ubb.4	-	12	2181	c.2107G>A	c.(2107-2109)Gac>Aac	p.D703N	LY75-CD302_uc010fos.3_Missense_Mutation_p.D703N|LY75-CD302_uc002ubc.4_Missense_Mutation_p.D703N|LY75-CD302_uc010fot.2_Missense_Mutation_p.D703N	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	703	C-type lectin 4.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CTGAACTGGTCCGTTAAAAAG	0.398000														16			4		0	0	0.000248	0	0
YIPF7	285525	broad.mit.edu	37	4	44652016	44652016	+	Silent	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:44652016A>T	uc021xnx.1	-	1	191	c.174T>A	c.(172-174)ctT>ctA	p.L58L	YIPF7_uc010ify.2_Silent_p.L58L	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	58						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TAGATCCATAAAGATTTCCAT	0.303000														2			6		0	0	0.003080	0	0
TGM4	7047	broad.mit.edu	37	3	44951708	44951708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:44951708G>A	uc003coc.4	+	10	1527	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	485					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GTGCTGCTGGGAAACTCTGTT	0.458000														88			35		0	0	0.002836	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798468	69798468	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:69798468T>A	uc003hef.2	-	2	905	c.874A>T	c.(874-876)Aat>Tat	p.N292Y	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	292						integral to membrane	glucuronosyltransferase activity	p.E291K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGACAAAATTTTCCATTTCC	0.318000														4			9		0	0	0.006214	0	0
MICALCL	84953	broad.mit.edu	37	11	12315568	12315568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:12315568C>T	uc001mkg.1	+	2	881	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	197					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGGAATGACTCCATCCCTGAG	0.532000														42			62		0	0	0.003610	0	0
RIN3	79890	broad.mit.edu	37	14	93142946	93142946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:93142946G>A	uc001yap.3	+	7	2614	c.2462G>A	c.(2461-2463)gGg>gAg	p.G821E	RIN3_uc010auk.3_Missense_Mutation_p.G483E|RIN3_uc001yaq.3_Missense_Mutation_p.G746E|RIN3_uc001yas.1_Missense_Mutation_p.G483E	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	821	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTGCAGCTGGGGGAGGGTGAG	0.617000														22			16		0	0	0.006122	0	0
AMELX	265	broad.mit.edu	37	X	11317009	11317009	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:11317009C>T	uc004cus.3	+	5	596	c.528C>T	c.(526-528)ttC>ttT	p.F176F	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Silent_p.F162F|AMELX_uc004cuu.3_Silent_p.F146F	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	162					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CTCCGATGTTCCCCATGCAGC	0.607000														9			31		0	0	0.003755	0	0
INSR	3643	broad.mit.edu	37	19	7132257	7132257	+	Silent	SNP	C	T	T	rs148994508		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:7132257C>T	uc002mgd.1	-	13	2863	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P	INSR_uc002mge.1_Silent_p.P906P	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	918	Fibronectin type-III 3.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTAGTTCCCCGGTGACAGCC	0.607000														195			154		0	0	0.003610	0	0
ENPP7	339221	broad.mit.edu	37	17	77708958	77708958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:77708958G>A	uc002jxa.3	+	2	536	c.516G>A	c.(514-516)tgG>tgA	p.W172*		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	172					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGACGGAGTGGAGAGCGAACA	0.592000														44			22		0	0	0.002299	0	0
PLCB3	5331	broad.mit.edu	37	11	64029442	64029442	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64029442C>T	uc009ypi.3	+	16	2059	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	PLCB3_uc009ypg.2_Silent_p.L644L|PLCB3_uc009yph.2_Silent_p.L577L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	644	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGCAGCAGCTCAGCCGCATCT	0.622000														67			21		0	0	0.001882	0	0
PRDM14	63978	broad.mit.edu	37	8	70982036	70982036	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:70982036C>T	uc003xym.3	-	1	262	c.60G>A	c.(58-60)gaG>gaA	p.E20E		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCGGGCTGCTCTCCGGCGGGT	0.647000														33			8		0	0	0.000978	0	0
POU5F2	134187	broad.mit.edu	37	5	93076968	93076968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:93076968G>A	uc003kkl.1	-	0	342	c.302C>T	c.(301-303)cCg>cTg	p.P101L	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GTAGGGCCCCGGGAGGGCGCC	0.637000														12			24		0	0	0.002299	0	0
RPRD2	23248	broad.mit.edu	37	1	150444238	150444238	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150444238C>T	uc009wlr.3	+	10	3015	c.2814C>T	c.(2812-2814)ttC>ttT	p.F938F	RPRD2_uc010pcc.1_Intron|RPRD2_uc001eup.4_Silent_p.F912F	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	938	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATTCATTTTTCACCCCTGACT	0.512000														201			164		0	0	0.003610	0	0
KDM5A	5927	broad.mit.edu	37	12	394648	394648	+	Missense_Mutation	SNP	T	C	C	rs150903623	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:394648T>C	uc001qif.1	-	27	5410	c.5047A>G	c.(5047-5049)Atg>Gtg	p.M1683V	KDM5A_uc021qsr.1_3'UTR	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1683	Interaction with LMO2.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGATCCTCCATTGGTAGTTTG	0.453000			T	NUP98	AML									5			8		0	0	0.004482	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255380	50255380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:50255380C>T	uc003cyn.4	+	10	1025	c.884C>T	c.(883-885)gCc>gTc	p.A295V	SLC38A3_uc011bdl.2_Missense_Mutation_p.A271V|SLC38A3_uc011bdm.2_Missense_Mutation_p.A227V	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	296					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	ATGGCCTTCGCCTTCGTCTGC	0.622000														31			22		0	0	0.002780	0	0
OR51B6	390058	broad.mit.edu	37	11	5372760	5372760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5372760C>T	uc010qzb.2	+	0	23	c.23C>T	c.(22-24)tCc>tTc	p.S8F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTCTGCTTCCACCTTCCAG	0.448000														9			4		0	0	0.000602	0	0
GPC3	2719	broad.mit.edu	37	X	132730486	132730486	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:132730486G>A	uc010nrn.2	-	7	1821	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	GPC3_uc004exe.2_Nonsense_Mutation_p.Q519*|GPC3_uc011mvh.2_Nonsense_Mutation_p.Q503*|GPC3_uc010nro.2_Nonsense_Mutation_p.Q465*	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	519						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AAGCGGAGCTGATTCTTCACT	0.423000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					35			18		0	0	0.002780	0	0
UNC79	57578	broad.mit.edu	37	14	93954030	93954030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:93954030G>A	uc001ybv.1	+	1	193	c.110G>A	c.(109-111)gGt>gAt	p.G37D	UNC79_uc001ybs.1_Missense_Mutation_p.G37D|UNC79_uc001ybu.1_Missense_Mutation_p.G37D	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	214						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGGAGAGAAGGTGTACCTGCC	0.408000														57			55		0	0	0.003610	0	0
ZNF233	353355	broad.mit.edu	37	19	44778448	44778448	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:44778448T>G	uc021uvi.1	+	4	1741	c.1635T>G	c.(1633-1635)ttT>ttG	p.F545L	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.F360L|ZNF233_uc002oyz.2_Missense_Mutation_p.F545L	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGAAGGGCTTTAGTCAGAGTT	0.473000														26			8		0	0	0.004482	0	0
GNAZ	2781	broad.mit.edu	37	22	23437907	23437907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:23437907G>A	uc002zwu.1	+	1	562	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	9						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AAGCTCAGAGGAAAAAGAAGC	0.642000														52			20		0	0	0.001216	0	0
CDHR2	54825	broad.mit.edu	37	5	176001113	176001113	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:176001113C>T	uc021yie.1	+	6	709	c.435C>T	c.(433-435)tcC>tcT	p.S145S	CDHR2_uc003mem.2_Silent_p.S145S|CDHR2_uc003men.1_Silent_p.S145S	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	145	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGTGTTCTCCGTGCTGGCCG	0.612000											OREG0017077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			19		0	0	0.001523	0	0
ZNF582	147948	broad.mit.edu	37	19	56896041	56896041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:56896041G>A	uc002qmy.3	-	4	1131	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	ZNF582_uc002qmz.1_Missense_Mutation_p.H249Y	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TCACCAGTATGAACTCTCTGA	0.388000														23			33		0	0	0.002836	0	0
NBEA	26960	broad.mit.edu	37	13	36129146	36129146	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:36129146C>T	uc021rid.1	+	43	7363	c.6829C>T	c.(6829-6831)Cga>Tga	p.R2277*	NBEA_uc021ric.1_Nonsense_Mutation_p.R2274*|NBEA_uc010abi.3_Nonsense_Mutation_p.R933*|NBEA_uc010tee.1_Nonsense_Mutation_p.R70*|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Nonsense_Mutation_p.R70*|NBEA_uc010teg.1_Nonsense_Mutation_p.R70*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2277	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGCCACTCCTCGACAGCTTTA	0.323000														14			10		0	0	0.000673	0	0
C15orf2	23742	broad.mit.edu	37	15	24923207	24923207	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:24923207G>A	uc001ywo.3	+	0	2667	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	731					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTGGTTCTGGGAACACACAAC	0.537000														125			34		0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179666956	179666956	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179666956G>A	uc021vsy.1	-	2	429	c.204C>T	c.(202-204)ccC>ccT	p.P68P	TTN_uc021vsz.1_Silent_p.P68P|TTN_uc021vta.1_Silent_p.P68P|TTN_uc021vtb.1_Silent_p.P68P|TTN_uc002unb.2_Silent_p.P68P|TTN_uc002und.3_Silent_p.P68P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	68	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I67M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTCACGGCGGGGATCGTCA	0.552000														42			18		0	0	0.001523	0	0
COL9A2	1298	broad.mit.edu	37	1	40767049	40767049	+	Silent	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:40767049G>T	uc001cfh.1	-	31	1987	c.1875C>A	c.(1873-1875)ctC>ctA	p.L625L	COL9A2_uc001cfi.1_Silent_p.L444L	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	625	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GCCGGCCAGGGAGTCCTGTGA	0.592000														25			18		6.49762e-13	1.2386e-12	0.006122	1	0
CDS2	8760	broad.mit.edu	37	20	5157321	5157321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:5157321C>T	uc002wls.3	+	3	651	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	CDS2_uc002wlr.2_Missense_Mutation_p.H29Y|CDS2_uc002wlw.3_Intron|CDS2_uc002wlv.3_Missense_Mutation_p.H9Y|CDS2_uc010zqv.2_5'Flank	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	107					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TAAGTGTTTCCATGAGATAAT	0.463000														76			23		0	0	0.004656	0	0
MYOM1	8736	broad.mit.edu	37	18	3134808	3134808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:3134808G>A	uc002klp.3	-	15	2558	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S	MYOM1_uc002klq.3_Missense_Mutation_p.P742S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	742	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTTTGCCAGGAGCCTTGGGG	0.443000														45			20		0	0	0.001216	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183203	200183203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200183203C>T	uc009wzi.1	+	0	548	c.512C>T	c.(511-513)gCc>gTc	p.A171V		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	171					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						ACCCCCGTTGCCGTCACTGCC	0.632000														52			16		0	0	0.004007	0	0
ZIM3	114026	broad.mit.edu	37	19	57646552	57646552	+	Missense_Mutation	SNP	G	A	A	rs150510557		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57646552G>A	uc002qnz.1	-	4	1539	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H385Y(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAGTATGGATTTTTTTA	0.393000														88			42		0	0	0.002222	0	0
HECTD1	25831	broad.mit.edu	37	14	31597181	31597182	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:31597181_31597182AG>CA	uc001wrc.1	-	25	5279_5280	c.4790_4791CT>TG	c.(4789-4791)cct>cTG	p.P1597L	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.P1065L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1597	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGTCAAATTAGGGAAACTCTG	0.391000														28			5		0	0	0.004672	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758593	121758593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:121758593C>T	uc003ksw.1	+	3	367	c.161C>T	c.(160-162)tCa>tTa	p.S54L	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S54L|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S101L|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.S54L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	54					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGTGGCATCTCAACTCTTATT	0.423000														14			4		0	0	0.000602	0	0
NCLN	56926	broad.mit.edu	37	19	3198862	3198862	+	Silent	SNP	C	T	T	rs150799648		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3198862C>T	uc002lxi.3	+	4	817	c.663C>T	c.(661-663)atC>atT	p.I221I	NCLN_uc002lxh.1_Non-coding_Transcript|NCLN_uc002lxj.1_Non-coding_Transcript	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	221					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATCGTCATCGTGGCCCACT	0.657000														124			50		0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486364	37486364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:37486364C>T	uc021ppc.1	+	28	2603	c.2504C>T	c.(2503-2505)cCa>cTa	p.P835L	ANKRD30A_uc001iza.1_Missense_Mutation_p.P835L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	891						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGTCTGTTCCAAATAAAGCC	0.308000														8			50		0	0	0.003610	0	0
WASF3	10810	broad.mit.edu	37	13	27255242	27255242	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:27255242T>A	uc001uqv.3	+	7	993	c.768T>A	c.(766-768)caT>caA	p.H256Q	WASF3_uc001uqw.3_Missense_Mutation_p.H253Q	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	256					actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.N255S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCCCAACCATTCTCTGCACC	0.527000														145			51		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10399789	10399789	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10399789C>T	uc002gmo.3	-	33	4828	c.4734G>A	c.(4732-4734)agG>agA	p.R1578R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1578						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1578R(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCAATTTTCCTATCAACCT	0.448000														126			68		0	0	0.003610	0	0
SLC9A4	389015	broad.mit.edu	37	2	103125368	103125368	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:103125368C>T	uc002tbz.4	+	5	1921	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	488					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AAAAAGAATCCATCAATGAAG	0.358000														26			27		0	0	0.001786	0	0
CSMD1	64478	broad.mit.edu	37	8	3046464	3046464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:3046464C>T	uc022aqr.1	-	34	5858	c.5468G>A	c.(5467-5469)gGa>gAa	p.G1823E	CSMD1_uc011kwj.2_Missense_Mutation_p.G1216E|CSMD1_uc003wqe.3_Missense_Mutation_p.G980E|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1824	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAGTTGTTTCCGTATGGCTC	0.478000														16			11		0	0	0.001855	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579239	35579239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:35579239G>A	uc001bym.3	+	9	1954	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q	ZMYM1_uc001byn.3_Missense_Mutation_p.R603Q|ZMYM1_uc010ohu.2_Missense_Mutation_p.R584Q|ZMYM1_uc001byo.3_Missense_Mutation_p.R243Q|ZMYM1_uc009vut.3_Missense_Mutation_p.R528Q	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	603						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	p.R603Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAACATTTCGACTTATGAAT	0.318000														28			29		0	0	0.006320	0	0
MDC1	9656	broad.mit.edu	37	6	30680309	30680309	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:30680309G>A	uc003nrg.4	-	4	1850	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V	MDC1_uc003nrf.4_Silent_p.V124V|MDC1_uc011dmp.1_Silent_p.V342V|MDC1_uc003nrh.1_Silent_p.V342V|MDC1_uc003nri.2_Silent_p.V470V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	470	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GATCCTTGAGGACAGCTTCTC	0.493000								Other conserved DNA damage response genes						54			92		0	0	0.003610	0	0
MYO10	4651	broad.mit.edu	37	5	16670646	16670646	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:16670646A>T	uc003jft.4	-	38	6340	c.5872T>A	c.(5872-5874)Ttt>Att	p.F1958I	MYO10_uc011cnb.2_Missense_Mutation_p.F587I|MYO10_uc011cnc.2_Missense_Mutation_p.F837I|MYO10_uc011cnd.2_Missense_Mutation_p.F1315I|MYO10_uc011cne.2_Missense_Mutation_p.F1315I|MYO10_uc010itx.3_Missense_Mutation_p.F1580I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1958	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCACATCAAACAGCGTCGAG	0.537000														14			21		0	0	0.002780	0	0
DCAF11	80344	broad.mit.edu	37	14	24588383	24588383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:24588383C>T	uc001wlv.3	+	8	1089	c.809C>T	c.(808-810)tCc>tTc	p.S270F	DCAF11_uc001wlw.3_Missense_Mutation_p.S270F|DCAF11_uc001wlz.3_Missense_Mutation_p.S170F|DCAF11_uc001wly.3_Missense_Mutation_p.S226F|DCAF11_uc010tny.2_Missense_Mutation_p.S137F|DCAF11_uc001wmc.3_Missense_Mutation_p.S170F|DCAF11_uc001wmb.4_Missense_Mutation_p.S244F|DCAF11_uc001wma.4_Missense_Mutation_p.S270F	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	270						CUL4 RING ubiquitin ligase complex	protein binding										GCTGTCTTCTCCATTGCTGTC	0.463000														214			84		0	0	0.003610	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059036	79059036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:79059036G>A	uc002bej.4	-	18	3428	c.3217C>T	c.(3217-3219)Cac>Tac	p.H1073Y	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1073					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGATCCTCGTGGAAATTGATG	0.617000														89			26		0	0	0.005443	0	0
NARF	26502	broad.mit.edu	37	17	80436782	80436782	+	Silent	SNP	C	T	T	rs138767616		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:80436782C>T	uc010dit.3	+	5	767	c.627C>T	c.(625-627)ttC>ttT	p.F209F	NARF_uc002kff.4_Silent_p.F150F|NARF_uc010wvo.1_Silent_p.F164F|NARF_uc010wvp.1_Silent_p.F81F|NARF_uc002kfg.4_Silent_p.F209F|NARF_uc002kfj.4_Silent_p.F161F	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	Homo sapiens nuclear prelamin A recognition factor (NARF), transcript variant 2, mRNA.	209						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGATTATTTCGCCAGACAGC	0.637000														10			22		0	0	0.003954	0	0
HDX	139324	broad.mit.edu	37	X	83724271	83724271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:83724271G>A	uc011mqv.2	-	3	707	c.460C>T	c.(460-462)Cct>Tct	p.P154S	HDX_uc004eel.2_Missense_Mutation_p.P96S|HDX_uc004eek.2_Missense_Mutation_p.P154S	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P154S(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTTGGACAGGAATGTGTAAC	0.358000														33			70		0	0	0.003610	0	0
LBP	3929	broad.mit.edu	37	20	36993293	36993293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:36993293C>T	uc002xic.1	+	7	843	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	270				VMSLP -> A (in Ref. 1; AAA59493).	Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CATGAGCCTTCCTGAGGAACA	0.458000														185			73		0	0	0.003610	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347163	95347163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:95347163G>A	uc010qnt.2	+	3	987	c.931G>A	c.(931-933)Gac>Aac	p.D311N	O3FAR1_uc010qnu.2_Missense_Mutation_p.D295N	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	311					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						CTTCAAGCAAGACCTGGTCAT	0.522000														13			130		0	0	0.003610	0	0
TYR	7299	broad.mit.edu	37	11	88911329	88911329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:88911329C>T	uc001pcs.3	+	0	290	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	70					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GCCTCAATTTCCCTTCACAGG	0.547000														29			12		0	0	0.001368	0	0
PCSK6	5046	broad.mit.edu	37	15	101858555	101858555	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:101858555C>T	uc002bxa.2	-	19	2849	c.2535G>A	c.(2533-2535)ggG>ggA	p.G845G	PCSK6_uc010bpd.3_Silent_p.G642G|PCSK6_uc002bwy.3_Silent_p.G845G|PCSK6_uc010bpe.3_Silent_p.G829G|PCSK6_uc002bxb.2_Silent_p.G832G	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	846	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATGGCATTCCCCACATCTGA	0.587000														2			7		0	0	0.004482	0	0
MYO1B	4430	broad.mit.edu	37	2	192251958	192251958	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:192251958C>T	uc010fsg.2	+	16	1818	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y	MYO1B_uc002usq.2_Silent_p.Y521Y|MYO1B_uc002usr.2_Silent_p.Y521Y|MYO1B_uc002ust.1_Silent_p.Y159Y	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	521	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGGTGCTGTACCAGGTGGAAG	0.433000														33			14		0	0	0.004007	0	0
RBM46	166863	broad.mit.edu	37	4	155719262	155719262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:155719262G>A	uc003ioo.3	+	2	624	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	RBM46_uc011cim.1_Missense_Mutation_p.E151K|RBM46_uc003iop.1_Missense_Mutation_p.E151K	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	151	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TATTCCCAAGGAAAAGAAGAA	0.328000														21			16		0	0	0.004990	0	0
PAK7	57144	broad.mit.edu	37	20	9543669	9543669	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9543669G>A	uc002wnl.2	-	6	2030	c.1485C>T	c.(1483-1485)gtC>gtT	p.V495V	PAK7_uc002wnk.2_Silent_p.V495V|PAK7_uc002wnj.2_Silent_p.V495V|PAK7_uc010gby.1_Silent_p.V495V	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	495	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCATGATCACGACCTGGGGAA	0.453000														101			29		0	0	0.003755	0	0
EXPH5	23086	broad.mit.edu	37	11	108381695	108381695	+	Silent	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:108381695T>A	uc001pkk.3	-	5	4650	c.4539A>T	c.(4537-4539)gcA>gcT	p.A1513A	EXPH5_uc010rvz.2_Silent_p.A1357A|EXPH5_uc010rvy.2_Silent_p.A1325A	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1513					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTTTATGCAATGCTGGAGTAA	0.448000														51			20		0	0	0.002780	0	0
ZNF616	90317	broad.mit.edu	37	19	52619838	52619838	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:52619838G>A	uc002pym.3	-	3	862	c.579C>T	c.(577-579)gcC>gcT	p.A193A	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACGCTTTAAAGGCTTTGCCAC	0.383000														16			14		0	0	0.001855	0	0
GDPD1	284161	broad.mit.edu	37	17	57350190	57350190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:57350190G>A	uc002ixk.2	+	8	958	c.815G>A	c.(814-816)gGc>gAc	p.G272D	GDPD1_uc002ixj.3_Missense_Mutation_p.G272D|GDPD1_uc021uas.1_Intron	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA.	272	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACTGCTCGAGGCATTCAAGTA	0.358000														75			32		0	0	0.001951	0	0
MYH8	4626	broad.mit.edu	37	17	10300222	10300222	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10300222C>T	uc002gmm.2	-	30	4355	c.4260G>A	c.(4258-4260)acG>acA	p.T1420T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1420					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCGCTGCTTCGTCTTCTCAA	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					66			21		0	0	0.002299	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868025	31868025	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31868025C>A	uc003nyd.1	-	1	1234	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.R353L|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GTGCTGCGCCCGCATGTGGAA	0.567000														306			9		0.00448238	0.00844099	0.004482	1	0
CES1	1066	broad.mit.edu	37	16	55853480	55853480	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:55853480C>T	uc002eim.3	-	6	978	c.870G>A	c.(868-870)acG>acA	p.T290T	CES1_uc002eil.3_Silent_p.T291T|CES1_uc002ein.3_Silent_p.T290T	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	290					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GCTCCTCTTCCGTCTTCTGTC	0.498000														68			19		0	0	0.003330	0	0
POTEC	388468	broad.mit.edu	37	18	14542941	14542941	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:14542941A>T	uc010dln.3	-	0	659	c.205T>A	c.(205-207)Ttc>Atc	p.F69I	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	69										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGCAGGGGAAGCAGTGGTGG	0.572000														252			43		0	0	0.003610	0	0
NOS3	4846	broad.mit.edu	37	7	150707276	150707276	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:150707276C>T	uc003wif.3	+	20	2882	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	NOS3_uc011kuy.2_Silent_p.F656F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	862	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCACCTTCTTCCTGGACATCA	0.692000														78			62		0	0	0.003610	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460927	70460927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:70460927C>T	uc011caq.2	-	4	1651	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	UGT2A1_uc010ihu.3_Missense_Mutation_p.G346E|UGT2A1_uc003hem.4_Missense_Mutation_p.G346E|UGT2A1_uc010ihs.3_Missense_Mutation_p.G355E|UGT2A1_uc021xox.1_Missense_Mutation_p.G311E|UGT2A1_uc010iht.3_Missense_Mutation_p.G302E	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	346					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTATTGTTTCCTAATGTGGC	0.383000														5			5		0	0	0.001984	0	0
MUC6	4588	broad.mit.edu	37	11	1017368	1017368	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1017368G>A	uc001lsw.2	-	30	5484	c.5433C>T	c.(5431-5433)tcC>tcT	p.S1811S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1811	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGACCTGTGGAAGAGATGG	0.587000														739			69		0	0	0.003610	0	0
CCDC116	164592	broad.mit.edu	37	22	21990776	21990776	+	Missense_Mutation	SNP	C	T	T	rs138868031		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21990776C>T	uc002zve.3	+	4	1352	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	420										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TCCATCTCGTCGAAGTCCAGC	0.597000														49			15		0	0	0.006122	0	0
RGNEF	64283	broad.mit.edu	37	5	73168939	73168939	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:73168939C>T	uc010izf.3	+	21	2858	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	RGNEF_uc011csq.2_Silent_p.F894F|RGNEF_uc021yam.1_Silent_p.F894F|RGNEF_uc011csr.2_Silent_p.F581F	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	894	DH.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ATAAAATTTTCCCCTGTTTAG	0.468000														12			13		0	0	0.002450	0	0
SYN2	6854	broad.mit.edu	37	3	12211320	12211320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:12211320G>A	uc003bwm.3	+	12	1374	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	SYN2_uc003bwl.1_Missense_Mutation_p.E404K|SYN2_uc003bwn.3_Missense_Mutation_p.E82K	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	408					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACTCATCACCGAACTAGTCAT	0.557000														65			100		0	0	0.003610	0	0
GALNT7	51809	broad.mit.edu	37	4	174216643	174216643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:174216643G>A	uc003isz.4	+	3	934	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	GALNT7_uc011ckb.2_Missense_Mutation_p.R61Q	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	284	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ATTCAAGCACGAAGTATTGGT	0.353000														28			33		0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9077424	9077424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9077424C>T	uc002mkp.3	-	2	10226	c.10022G>A	c.(10021-10023)gGa>gAa	p.G3341E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3342	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G3341*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTCCATTCCAGTTGTCTT	0.502000														27			19		0	0	0.007413	0	0
HSPA4	3308	broad.mit.edu	37	5	132412462	132412462	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:132412462C>T	uc003kyj.3	+	6	1061	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	260					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCCAAAATCCGTGCATTAT	0.368000														18			25		0	0	0.007291	0	0
GPC6	10082	broad.mit.edu	37	13	94958287	94958287	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:94958287C>T	uc001vlt.3	+	5	1694	c.1062C>T	c.(1060-1062)cgC>cgT	p.R354R	GPC6_uc010tig.1_Silent_p.R354R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	354						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATCTGCCCGCTCAGCTCCTG	0.478000														111			44		0	0	0.002852	0	0
FAM47A	158724	broad.mit.edu	37	X	34148572	34148572	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:34148572G>A	uc004ddg.3	-	0	1876	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	608										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						AGAATTCACGGAGTTTTTCCG	0.448000														36			58		0	0	0.003610	0	0
STK24	8428	broad.mit.edu	37	13	99115960	99115960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:99115960G>A	uc001vnm.1	-	6	1185	c.950C>T	c.(949-951)tCc>tTc	p.S317F	STK24_uc001vnn.1_Missense_Mutation_p.S305F|STK24_uc010tim.1_Missense_Mutation_p.S286F	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	317					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGAATCCTCGGAGCTCGAGTC	0.522000														11			31		0	0	0.001786	0	0
EML1	2009	broad.mit.edu	37	14	100363618	100363618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:100363618G>A	uc001ygr.3	+	7	940	c.871G>A	c.(871-873)Gat>Aat	p.D291N	EML1_uc010avt.1_Missense_Mutation_p.D259N|EML1_uc010tww.2_Missense_Mutation_p.D260N|EML1_uc001ygq.3_Missense_Mutation_p.D291N|EML1_uc001ygs.3_Missense_Mutation_p.D272N	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	272						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGCCACAACGATGACGTGAA	0.552000														51			17		0	0	0.001882	0	0
SPEG	10290	broad.mit.edu	37	2	220350099	220350099	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220350099G>A	uc010fwg.3	+	30	7641	c.7641G>A	c.(7639-7641)tgG>tgA	p.W2547*		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2547					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCTCCGCTGGGGCTTCTCTC	0.612000														91			46		0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197390900	197390900	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:197390900A>G	uc001gtz.3	+	5	2151	c.1942A>G	c.(1942-1944)Att>Gtt	p.I648V	CRB1_uc010poz.2_Missense_Mutation_p.I579V|CRB1_uc009wza.3_Missense_Mutation_p.I536V|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.I648V|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.I129V|CRB1_uc001gub.1_Missense_Mutation_p.I297V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	648	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGACATTAAAATTGATTGGAA	0.438000														50			39		0	0	0.006999	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745008	23745008	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23745008G>C	uc001wja.2	-	1	1577	c.1429C>G	c.(1429-1431)Cgg>Ggg	p.R477G	HOMEZ_uc001wjb.2_Missense_Mutation_p.R479G	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	477						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCAGTTTCCCGTAGCTGTTGG	0.557000														45			14		0	0	0.002450	0	0
RAPH1	65059	broad.mit.edu	37	2	204305456	204305456	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:204305456G>T	uc002vad.3	-	13	2682	c.2457C>A	c.(2455-2457)ttC>ttA	p.F819L		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	819					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGAAGCAGGGAAAGCTGGCT	0.577000														13			7		1.26484e-09	2.40416e-09	0.003080	1	0
RHBG	57127	broad.mit.edu	37	1	156351898	156351898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:156351898G>A	uc010pho.2	+	6	1056	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	RHBG_uc010phm.1_Silent_p.V172V|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.G271R|RHBG_uc009wrz.3_Missense_Mutation_p.G308R|RHBG_uc001for.3_Missense_Mutation_p.G310R	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	340					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AGACACATGTGGAGTCCACAA	0.577000														168			59		0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10998289	10998289	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:10998289C>T	uc002yis.1	-	10		c.1964G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCTTCCCGCTCAGGACTAG	0.378000														102			18		0	0	0.006122	0	0
MMP1	4312	broad.mit.edu	37	11	102662173	102662173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:102662173C>T	uc001phi.2	-	7	1230	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.D297N	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	363	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CTGTAGATGTCCTTGGGGTAT	0.433000														73			28		0	0	0.003755	0	0
METTL18	92342	broad.mit.edu	37	1	169762312	169762312	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:169762312G>A	uc001ggn.3	-	1	803	c.525C>T	c.(523-525)ctC>ctT	p.L175L	C1orf112_uc001ggj.3_Intron|METTL18_uc021pen.1_Silent_p.L175L|C1orf112_uc001ggo.3_5'Flank|C1orf112_uc010plt.1_5'Flank|C1orf112_uc001ggp.3_5'Flank|C1orf112_uc001ggq.3_5'Flank|C1orf112_uc009wvt.3_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	Homo sapiens methyltransferase like 18 (METTL18), mRNA.	175						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						AATAAGCCAGGAGGTCAAAGG	0.398000														34			33		0	0	0.002096	0	0
PKD1L2	114780	broad.mit.edu	37	16	81241152	81241152	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:81241152G>A	uc002fgh.1	-	4	849	c.849C>T	c.(847-849)aaC>aaT	p.N283N	PKD1L2_uc002fgj.3_Silent_p.N283N	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	283					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TACAGGACAGGTTTCCTATGT	0.483000														120			38		0	0	0.007835	0	0
PADI4	23569	broad.mit.edu	37	1	17664611	17664611	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17664611G>T	uc001baj.2	+	4	515	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	PADI4_uc009vpc.2_Missense_Mutation_p.A163S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	163					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CGAATCTTCTGCCATGGACTG	0.527000														34			37		4.62619e-21	8.85695e-21	0.004289	1	0
MUC7	4589	broad.mit.edu	37	4	71347351	71347351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:71347351C>T	uc011cat.2	+	3	1178	c.890C>T	c.(889-891)tCc>tTc	p.S297F	MUC7_uc011cau.2_Missense_Mutation_p.S297F|MUC7_uc003hfj.3_Missense_Mutation_p.S297F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	297	Thr-rich.					extracellular region	protein binding	p.S297Y(2)		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)			CCACCGTCTTCCCCAGCTCCA	0.557000														12			9		0	0	0.000978	0	0
ZNF329	79673	broad.mit.edu	37	19	58640350	58640350	+	Missense_Mutation	SNP	G	A	A	rs147789299		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:58640350G>A	uc002qrn.3	-	3	758	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.S174L	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S174S(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ACCTTCATACGATTTCTTGCC	0.363000														49			24		0	0	0.002780	0	0
FCGBP	8857	broad.mit.edu	37	19	40424273	40424273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40424273C>T	uc002omp.4	-	3	1938	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	644	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TAGTCCCCATCATCCAGCTTC	0.602000														214			96		0	0	0.003610	0	0
SLC12A2	6558	broad.mit.edu	37	5	127471439	127471439	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:127471439C>T	uc003kus.3	+	6	1511	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.F449F	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	449					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.F449F(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGGTGATTTCGTCATAGGAA	0.308000														86			23		0	0	0.005443	0	0
CCDC132	55610	broad.mit.edu	37	7	92978093	92978093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:92978093C>T	uc003umo.3	+	23	2406	c.2278C>T	c.(2278-2280)Ccc>Tcc	p.P760S	CCDC132_uc003ump.3_Missense_Mutation_p.P730S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.P480S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	760										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTCAAAAAGCCCTTTCTTCA	0.403000														24			29		0	0	0.007291	0	0
GLDN	342035	broad.mit.edu	37	15	51696916	51696916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:51696916C>T	uc002aba.3	+	9	1790	c.1621C>T	c.(1621-1623)Cct>Tct	p.P541S	GLDN_uc002abb.3_Missense_Mutation_p.P417S	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	541	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AATGCTTTATCCTGTGCAGTT	0.423000														74			64		0	0	0.003610	0	0
STRC	161497	broad.mit.edu	37	15	43893739	43893739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43893739G>A	uc001zsf.3	-	23	4634	c.4556C>T	c.(4555-4557)cCc>cTc	p.P1519L	STRC_uc010bdl.3_Missense_Mutation_p.P746L|STRC_uc001zse.3_Missense_Mutation_p.P37L	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1519					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCCCCGGGGGGGACCCCACAA	0.527000														27			15		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9091402	9091402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9091402C>T	uc002mkp.3	-	0	617	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	138	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G138G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTAAAATTTCCTTCTGTGGA	0.493000														31			13		0	0	0.001855	0	0
SYT1	6857	broad.mit.edu	37	12	79693274	79693274	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:79693274G>A	uc001sys.3	+	8	1424	c.753G>A	c.(751-753)gtG>gtA	p.V251V	SYT1_uc001syt.3_Silent_p.V251V|SYT1_uc001syu.3_Silent_p.V248V|SYT1_uc001syv.3_Silent_p.V251V	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	251	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAACACAGTGGATTTTGGCC	0.428000														43			15		0	0	0.002450	0	0
ZNF99	7652	broad.mit.edu	37	19	22940838	22940838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:22940838C>T	uc021urt.1	-	3	2028	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.378000														7			8		0	0	0.004482	0	0
ASXL2	55252	broad.mit.edu	37	2	25966040	25966040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:25966040C>T	uc002rgs.2	-	11	3387	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1056					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTAGTCCTTCGTGGTATTGG	0.507000														15			38		0	0	0.005524	0	0
FAM83D	81610	broad.mit.edu	37	20	37570694	37570694	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:37570694C>T	uc002xjg.3	+	1	707	c.666C>T	c.(664-666)atC>atT	p.I222I	FAM83D_uc002xjf.3_Silent_p.I222I	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	192					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTGTATATCCTTCTGGACC	0.448000														41			30		0	0	0.002836	0	0
CDH18	1016	broad.mit.edu	37	5	19591301	19591301	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:19591301C>T	uc003jgd.3	-	6	1398	c.864G>A	c.(862-864)ggG>ggA	p.G288G	CDH18_uc011cnm.2_Silent_p.G288G|CDH18_uc003jgc.3_Silent_p.G288G|CDH18_uc021xwu.1_Silent_p.G288G	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	288	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTGATTTTCCCAACAGCTG	0.383000														10			5		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179575987	179575987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179575987C>T	uc021vsy.1	-	93	24469	c.24244G>A	c.(24244-24246)Gga>Aga	p.G8082R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4743R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9009	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCTGATCCACTTATGGCA	0.403000														62			17		0	0	0.004990	0	0
SSPO	23145	broad.mit.edu	37	7	149477972	149477972	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:149477972C>T	uc010lpk.3	+	12	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	581	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTACTCCTTCTGGGGTG	0.677000														60			24		0	0	0.003330	0	0
OCRL	4952	broad.mit.edu	37	X	128691376	128691376	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:128691376T>C	uc004euq.3	+	4	478	c.313T>C	c.(313-315)Ttg>Ctg	p.L105L	OCRL_uc004eur.3_Silent_p.L105L	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	105					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGAACACTGTTTGAAGTTCCT	0.443000														42			20		0	0	0.001882	0	0
abParts	0	broad.mit.edu	37	2	90199187	90199187	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:90199187C>T	uc010yts.2	+	35		c.4581C>T								Parts of antibodies, mostly variable regions.																		CTAACAGTTTCCCTCCCACAG	0.532000														19			9		0	0	0.001855	0	0
C4orf40	401137	broad.mit.edu	37	4	71024217	71024217	+	Missense_Mutation	SNP	G	A	A	rs149016682	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:71024217G>A	uc003hfa.4	+	3	321	c.248G>A	c.(247-249)gGa>gAa	p.G83E	C4orf40_uc003hfb.4_Missense_Mutation_p.G83E	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	83						extracellular region		p.G83V(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGATTCCCCTAT	0.488000														72			55		0	0	0.003610	0	0
ARPP21	10777	broad.mit.edu	37	3	35833903	35833904	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:35833903_35833904GG>AA	uc011axy.2	+	17	2277_2278	c.2065_2066GG>AA	c.(2065-2067)gga>AAa	p.G689K	ARPP21_uc003cga.3_Missense_Mutation_p.G669K|ARPP21_uc003cgb.3_Missense_Mutation_p.G688K|ARPP21_uc003cgf.3_Missense_Mutation_p.G524K|ARPP21_uc003cgg.3_Missense_Mutation_p.G211K	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	688	Gln-rich.					cytoplasm	nucleic acid binding	p.F689F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGGTCAACAGGGATTCCAAGGC	0.465000														43			23		0	0	0.004672	0	0
METTL7B	196410	broad.mit.edu	37	12	56077725	56077725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:56077725G>A	uc010spr.2	+	1	836	c.627G>A	c.(625-627)tgG>tgA	p.W209*		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	209							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						GAGAGACCTGGAAGGATCTTG	0.557000														89			23		0	0	0.003954	0	0
DMD	1756	broad.mit.edu	37	X	32867892	32867892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:32867892C>T	uc004dda.1	-	2	383	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.G43R|DMD_uc004ddb.1_Missense_Mutation_p.G39R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.G39R|DMD_uc010ngq.1_Non-coding_Transcript|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	47	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGCGCCTCCCATCCTGTAGG	0.383000														27			29		0	0	0.004878	0	0
ALPPL2	251	broad.mit.edu	37	2	233272555	233272555	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:233272555G>A	uc002vss.4	+	5	529	c.476_splice	c.e5-1	p.G159_splice		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	159					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCACCCTCAGGAAAGTCAGTG	0.617000														34			46		0	0	0.003610	0	0
MYH3	4621	broad.mit.edu	37	17	10543976	10543976	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10543976G>A	uc002gmq.2	-	19	2281	c.2193C>T	c.(2191-2193)atC>atT	p.I731I		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	731	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTCCCTCAGGGattgcactgg	0.438000														15			38		0	0	0.004878	0	0
CES5A	221223	broad.mit.edu	37	16	55893498	55893498	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:55893498G>A	uc021tir.1	-	8	1250	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	CES5A_uc002eip.2_Silent_p.I339I|CES5A_uc002eio.2_Silent_p.I339I|CES5A_uc002eiq.2_Silent_p.I100I|CES5A_uc002eir.2_Silent_p.I233I	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	339						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.I339I(1)|p.I368I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TATTGACTCCGATGATGGAAG	0.448000														9			11		0	0	0.000978	0	0
C2orf15	150590	broad.mit.edu	37	2	99767019	99767019	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:99767019C>T	uc002szk.3	+	3	499	c.100C>T	c.(100-102)Cta>Tta	p.L34L	TSGA10_uc002szi.4_Intron|MRPL30_uc002szl.1_Intron	NM_144706	NP_653307	Q8WU43	CB015_HUMAN	Homo sapiens chromosome 2 open reading frame 15 (C2orf15), mRNA.	34										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						TTCAGCTATCCTAATGGGATT	0.328000														82			25		0	0	0.005443	0	0
VTN	7448	broad.mit.edu	37	17	26695044	26695044	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:26695044C>T	uc002hbc.3	-	6	1165	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	TMEM199_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	339					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CACACCGTGCCAGTCCCGGCT	0.622000														9			4		0	0	0.000248	0	0
NR0B2	8431	broad.mit.edu	37	1	27239939	27239939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:27239939C>T	uc001bnf.3	-	0	629	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	165	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGCATATTCCTTGGGGCTA	0.632000														4			56		0	0	0.003610	0	0
APPBP2	10513	broad.mit.edu	37	17	58531794	58531794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:58531794G>A	uc002iys.1	-	10	1495	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F	APPBP2_uc010ddl.1_Missense_Mutation_p.L332F	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	403					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GCTTCTTGAAGCAGCCTCTGT	0.363000														59			27		0	0	0.007291	0	0
ZNF696	79943	broad.mit.edu	37	8	144378029	144378029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:144378029G>A	uc003yxy.4	+	2	593	c.184G>A	c.(184-186)Ggg>Agg	p.G62R		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGGCCACAGAGGGGGGCCTCC	0.697000														16			8		0	0	0.003080	0	0
IQSEC2	23096	broad.mit.edu	37	X	53265598	53265598	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53265598C>T	uc004dsd.3	-	12	3558	c.3357G>A	c.(3355-3357)acG>acA	p.T1119T	IQSEC2_uc004dsc.3_Silent_p.T914T	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	1109					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGCGGGCCATCGTCCCATTCA	0.627000														15			8		0	0	0.006214	0	0
COL4A4	1286	broad.mit.edu	37	2	227915728	227915728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:227915728C>T	uc021vxr.1	-	31	3216	c.3115G>A	c.(3115-3117)Ggg>Agg	p.G1039R	COL4A4_uc021vxs.1_Missense_Mutation_p.G1039R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1039	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAATGAACCCTCTTAGACCA	0.532000														42			14		0	0	0.001216	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764434	109764434	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:109764434G>A	uc004eos.1	+	0		c.895G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		TTTGAACTGGGATTAGTTGCC	0.502000														9			7		0	0	0.003080	0	0
OVOS2	0	broad.mit.edu	37	12	31311939	31311939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:31311939C>T	uc010sjy.1	-	4	491	c.491G>A	c.(490-492)cGa>cAa	p.R164Q						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTAATATTTCGGAAAGAAGT	0.333000														49			88		0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31605326	31605326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31605326G>A	uc003nvb.4	+	30	6686	c.6437G>A	c.(6436-6438)cGa>cAa	p.R2146Q	PRRC2A_uc003nvc.4_Missense_Mutation_p.R2146Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	2146						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGGTCCCGAGGGGACAAG	0.632000														44			23		0	0	0.002780	0	0
MRAP2	112609	broad.mit.edu	37	6	84798837	84798837	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:84798837C>T	uc003pkg.4	+	3	445	c.255C>T	c.(253-255)ttC>ttT	p.F85F	MRAP2_uc010kbo.3_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	85					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGAAGAGATTCAGAATGAACA	0.433000														1			31		0	0	0.001786	0	0
IKZF4	64375	broad.mit.edu	37	12	56427098	56427098	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:56427098G>A	uc001sjb.1	+	7	1149	c.990G>A	c.(988-990)aaG>aaA	p.K330K	IKZF4_uc010sqa.1_Silent_p.K283K|IKZF4_uc001sjc.1_Silent_p.K330K|IKZF4_uc001sjd.1_Silent_p.K228K|IKZF4_uc009zoi.1_Silent_p.K285K|IKZF4_uc001sje.1_Silent_p.K289K	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	330					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CACCCCAGAAGTTTGTAGGTA	0.493000														111			54		0	0	0.003610	0	0
BMP5	653	broad.mit.edu	37	6	55739516	55739516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:55739516C>T	uc003pcq.3	-	0	860	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	BMP5_uc011dxf.2_Missense_Mutation_p.E50K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	50					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R49P(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTGTATTTCCCGTCTTTCG	0.453000														4			3		0	0	0.004672	0	0
MED12L	116931	broad.mit.edu	37	3	151093962	151093962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151093962G>A	uc003eyp.3	+	25	4037	c.3908G>A	c.(3907-3909)gGg>gAg	p.G1303E	MED12L_uc011bnz.2_Missense_Mutation_p.G1163E|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.G466E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1303					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTACCGAGGGGGACAATCTG	0.368000														10			3		0	0	0.000248	0	0
CREBRF	153222	broad.mit.edu	37	5	172517806	172517806	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:172517806T>C	uc003mch.3	+	3	943	c.624T>C	c.(622-624)acT>acC	p.T208T	CREBRF_uc003mcf.3_Silent_p.T208T|CREBRF_uc003mcg.3_Silent_p.T208T|CREBRF_uc011dfd.1_Silent_p.T208T	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	208							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GTAAACCCACTTCAAGCACAC	0.403000														18			9		0	0	0.000673	0	0
LTN1	26046	broad.mit.edu	37	21	30318520	30318520	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:30318520T>C	uc002ymr.2	-	19	3728	c.3715A>G	c.(3715-3717)Ata>Gta	p.I1239V		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1193							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAGGATATTATGATTTTTAAT	0.308000														3			28		0	0	0.007291	0	0
APOA5	116519	broad.mit.edu	37	11	116661393	116661393	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:116661393G>A	uc009yzg.3	-	1	1062	c.630C>T	c.(628-630)acC>acT	p.T210T	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Silent_p.T184T|APOA5_uc009yzf.3_Silent_p.T184T			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	184					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.T184T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGAAGCGGCCGGTGTGGTGCA	0.687000														194			84		0	0	0.003610	0	0
OCRL	4952	broad.mit.edu	37	X	128709929	128709929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:128709929G>A	uc004euq.3	+	16	1934	c.1769G>A	c.(1768-1770)aGc>aAc	p.S590N	OCRL_uc004eur.3_Missense_Mutation_p.S590N	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCCAGATCAGCAACAATGGA	0.448000														56			20		0	0	0.001882	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995048	140995048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:140995048G>A	uc004fbt.3	+	3	2182	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E279K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	620							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGGGAGGAATTCCAGTC	0.562000										HNSCC(15;0.026)				137			78		0	0	0.003610	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181806	57181806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:57181806C>T	uc003hbk.2	+	7	2529	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L	KIAA1211_uc010iha.2_Missense_Mutation_p.P706L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P623L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P599L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	713										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGGAAGACTCCGCCAGTCAAT	0.582000														38			36		0	0	0.003755	0	0
SPTA1	6708	broad.mit.edu	37	1	158632681	158632681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158632681G>A	uc001fst.1	-	16	2474	c.2275C>T	c.(2275-2277)Cct>Tct	p.P759S		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	759					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.H758N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTAGAATCAGGATGGCCTATT	0.438000														49			29		0	0	0.007291	0	0
OBSCN	84033	broad.mit.edu	37	1	228466522	228466522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:228466522C>T	uc009xez.1	+	25	7036	c.6992C>T	c.(6991-6993)cCc>cTc	p.P2331L	OBSCN_uc001hsn.3_Missense_Mutation_p.P2331L|OBSCN_uc001hsp.1_Missense_Mutation_p.P30L|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2331	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCTGCAGCCCGGGCCCAAG	0.627000														37			12		0	0	0.002450	0	0
PRR4	11272	broad.mit.edu	37	12	10999742	10999742	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:10999742A>G	uc001qyz.4	-	2	364	c.325T>C	c.(325-327)Tct>Cct	p.S109P	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Non-coding_Transcript|PRR4_uc001qza.4_Intron	NM_007244	NP_009175	Q16378	PROL4_HUMAN	Homo sapiens proline rich 4 (lacrimal) (PRR4), transcript variant 2, mRNA.	109					visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AGGCTGACAGAAGGAAATCGG	0.547000														42			27		0	0	0.004656	0	0
TPTE2	93492	broad.mit.edu	37	13	20048178	20048178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:20048178G>A	uc001umd.3	-	6	479	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Missense_Mutation_p.L53F|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	90						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCAAGGAGGAGAGTGACATCC	0.303000														26			12		0	0	0.001368	0	0
DHX40	79665	broad.mit.edu	37	17	57676800	57676800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:57676800C>T	uc002ixn.2	+	13	1909	c.1762C>T	c.(1762-1764)Cgt>Tgt	p.R588C	DHX40_uc010woe.2_Missense_Mutation_p.R511C|DHX40_uc010wof.2_Missense_Mutation_p.R103C	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	588							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCTGCATTTCGTGTGGAAGC	0.368000														61			24		0	0	0.006999	0	0
MYH6	4624	broad.mit.edu	37	14	23858907	23858907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23858907G>A	uc001wjv.3	-	26	3825	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1252					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCAGCGTCCGAGACACTTTC	0.582000														66			48		0	0	0.003610	0	0
TRPM4	54795	broad.mit.edu	37	19	49674906	49674906	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:49674906C>T	uc002pmw.3	+	7	1038	c.930C>T	c.(928-930)tgC>tgT	p.C310C	TRPM4_uc010emu.3_Silent_p.C310C|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Silent_p.C136C|TRPM4_uc010emv.3_Silent_p.C195C|TRPM4_uc010yal.2_Silent_p.C27C	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	310					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGCGGACTGCCTGGCGGAGA	0.602000														53			23		0	0	0.003954	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912861	77912861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77912861C>T	uc022bzi.1	-	0	1057	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	ZCCHC5_uc004edc.1_Missense_Mutation_p.D353N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	353							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GTGCTTTCATCCCAGTTCAGC	0.473000														9			18		0	0	0.004990	0	0
ZNF546	339327	broad.mit.edu	37	19	40520495	40520495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:40520495C>T	uc002oms.2	+	6	1574	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	ZNF546_uc002omt.2_Missense_Mutation_p.P414S	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTGAGAAACCCTATGAATG	0.398000														16			16		0	0	0.004007	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280058	32280058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32280058C>T	uc001bts.1	-	1	935	c.877G>A	c.(877-879)Gat>Aat	p.D293N	SPOCD1_uc001btu.3_Missense_Mutation_p.D293N|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	293					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGGGCCCATCCCCTGTAGCG	0.632000														12			9		0	0	0.006214	0	0
FNDC5	252995	broad.mit.edu	37	1	33333902	33333902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:33333902C>T	uc001bwg.3	-	2	288	c.73G>A	c.(73-75)Gag>Aag	p.E25K	FNDC5_uc021okv.1_Missense_Mutation_p.E25K|FNDC5_uc001bwf.2_Missense_Mutation_p.E25K	NM_001171941	NP_001165412	Q8NAU1	FNDC5_HUMAN	Homo sapiens fibronectin type III domain containing 5 (FNDC5), transcript variant 1, mRNA.	84	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTATGTACTCCGTATCCTCC	0.607000														3			44		0	0	0.002852	0	0
C17orf76-AS1	125144	broad.mit.edu	37	17	16342727	16342728	+	Splice_Site	DNP	GG	AA	AA	rs11540320		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:16342727_16342728GG>AA	uc021tqz.1	+	1	428	c.273_splice	c.e1+1	p.W91_splice	C17orf76-AS1_uc021tqt.1_Splice_Site_p.W91_splice|C17orf76-AS1_uc021tqu.1_Splice_Site|C17orf76-AS1_uc010vwf.2_Splice_Site|C17orf76-AS1_uc021tqv.1_Splice_Site|C17orf76-AS1_uc021tqw.1_Splice_Site|C17orf76-AS1_uc002gqb.4_Splice_Site|C17orf76-AS1_uc010vwk.2_Splice_Site|C17orf76-AS1_uc010vwh.2_Splice_Site|C17orf76-AS1_uc021tqx.1_Intron|C17orf76-AS1_uc010vwi.2_Splice_Site|C17orf76-AS1_uc010cpd.3_Splice_Site|C17orf76-AS1_uc021tqy.1_Splice_Site|C17orf76-AS1_uc002gqc.3_Splice_Site_p.W91_splice|C17orf76-AS1_uc010vwg.2_Splice_Site|C17orf76-AS1_uc010vwj.2_Splice_Site|C17orf76-AS1_uc002gqa.4_Splice_Site|C17orf76-AS1_uc010vwo.1_Splice_Site|C17orf76-AS1_uc010vwp.1_Splice_Site|C17orf76-AS1_uc010vwl.1_Splice_Site|C17orf76-AS1_uc010vwm.1_Splice_Site|C17orf76-AS1_uc010vwn.1_Splice_Site|C17orf76-AS1_uc021tra.1_Splice_Site|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Splice_Site|C17orf76-AS1_uc010cpe.2_Splice_Site|SNORD49B_uc010cpf.3_5'Flank|SNORD49A_uc010cpg.1_5'Flank|SNORD65_uc002gqf.1_5'Flank					Homo sapiens C17orf76 antisense RNA 1 (non-protein coding) (C17orf76-AS1), transcript variant 31, non-coding RNA.																		CGAGAGAACTGGGTAAGTTGGG	0.579000														74			34		0	0	0.004672	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604067	140604067	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140604067A>T	uc003ljb.3	+	0	990	c.990A>T	c.(988-990)aaA>aaT	p.K330N		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	330	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCAGGAAAATGCACCCTTC	0.413000														102			51		0	0	0.003610	0	0
WEE2	494551	broad.mit.edu	37	7	141408878	141408878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141408878G>A	uc003vwn.2	+	0	726	c.320G>A	c.(319-321)aGt>aAt	p.S107N	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	107					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.P106P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTGCTGCCCAGTGACAGCCCC	0.522000														55			18		0	0	0.006122	0	0
ADAM12	8038	broad.mit.edu	37	10	127726869	127726869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:127726869G>A	uc001ljk.2	-	19	2712	c.2299C>T	c.(2299-2301)Cac>Tac	p.H767Y	ADAM12_uc010qul.1_Missense_Mutation_p.H718Y	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	767					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCCGAGGTGAGCCTGACAG	0.587000														3			13		0	0	0.002450	0	0
RNF148	378925	broad.mit.edu	37	7	122342004	122342004	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:122342004G>A	uc003vkk.1	-	0	1018	c.801C>T	c.(799-801)ccC>ccT	p.P267P	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron|RNF133_uc003vkj.1_5'Flank	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	267						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTACATCTTGGGGTTTGTATG	0.423000														27			8		0	0	0.004482	0	0
PRIC285	85441	broad.mit.edu	37	20	62195163	62195163	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:62195163G>T	uc002yfm.2	-	8	5904	c.5012C>A	c.(5011-5013)gCc>gAc	p.A1671D	PRIC285_uc002yfl.1_Missense_Mutation_p.A1102D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1671					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGGCGAGGTGGCCCACGTGTA	0.701000														8			7		0.00307968	0.00580777	0.003080	1	0
SLC22A18	5002	broad.mit.edu	37	11	2929473	2929473	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:2929473G>T	uc001lwx.3	+	2	373	c.155G>T	c.(154-156)cGg>cTg	p.R52L	SLC22A18_uc001lwy.3_Missense_Mutation_p.R52L	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	52					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTGTCTCGGAAACTGGGC	0.632000														314			7		0.00448238	0.00844099	0.004482	1	0
FLG2	388698	broad.mit.edu	37	1	152326001	152326002	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152326001_152326002CC>AT	uc001ezw.4	-	2	4333_4334	c.4260_4261GG>AT	c.(4258-4263)agggga>agATga	p.G1421*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1421							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCCCCTTCTTCCAG	0.530000														46			30		0	0	0.004672	0	0
KLK6	5653	broad.mit.edu	37	19	51462453	51462453	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51462453C>T	uc002puh.3	-	4	794	c.729G>A	c.(727-729)acG>acA	p.T243T	KLK6_uc010eoj.3_Missense_Mutation_p.R106Q|KLK6_uc002pui.3_Silent_p.T234T|KLK6_uc002puj.3_Silent_p.T127T|KLK6_uc010ycn.2_Silent_p.T127T|KLK6_uc002pul.3_Silent_p.T234T|KLK6_uc002pum.3_Silent_p.T127T	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	234					amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGATCCAGTTCGTGTATCTGC	0.537000														57			66		0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237755154	237755154	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:237755154G>A	uc001hyl.1	+	32	4395	c.4275_splice	c.e32+1	p.T1425_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1425	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACGTCCACGGTATGAGGTTG	0.388000														12			6		0	0	0.001984	0	0
OR5L1	219437	broad.mit.edu	37	11	55579281	55579281	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55579281C>T	uc001nhw.1	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGAGGTCTTCCTGCTGGCCG	0.483000														28			76		0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270151	1270151	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1270151C>T	uc002cks.3	+	34	6467	c.6219C>T	c.(6217-6219)acC>acT	p.T2073T	CACNA1H_uc002ckt.3_Silent_p.T2067T|CACNA1H_uc002cku.3_Silent_p.T768T|CACNA1H_uc010brj.3_Silent_p.T784T|CACNA1H_uc002ckv.3_Silent_p.T762T	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2073					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTAAGCATACCTTCGGACAGC	0.716000														9			13		0	0	0.004007	0	0
ZFR2	23217	broad.mit.edu	37	19	3823358	3823358	+	Silent	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:3823358C>A	uc002lyw.2	-	7	1269	c.1257G>T	c.(1255-1257)ggG>ggT	p.G419G	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	419						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGCTGGTTTCCCCCACTGGG	0.622000														84			26		3.65163e-15	6.97345e-15	0.006320	1	0
BNC1	646	broad.mit.edu	37	15	83932835	83932835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:83932835C>T	uc002bjt.1	-	3	1256	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	BNC1_uc010uos.1_Missense_Mutation_p.E378K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	390					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I389I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTACACCCTTCGATGGTGCAC	0.512000														24			25		0	0	0.003330	0	0
ATL3	25923	broad.mit.edu	37	11	63414031	63414031	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:63414031A>T	uc001nxk.1	-	5	842	c.566T>A	c.(565-567)tTc>tAc	p.F189Y	ATL3_uc010rms.1_Missense_Mutation_p.F171Y	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	189					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GTATTCTGTGAAGAGCTTTAA	0.284000														39			43		0	0	0.003610	0	0
IQUB	154865	broad.mit.edu	37	7	123109291	123109291	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:123109291A>C	uc003vkn.3	-	8	2135	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	IQUB_uc003vko.3_Missense_Mutation_p.L520V|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.L520V	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	520										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTAAGAGTTAACAGCACATCC	0.358000														37			27		0	0	0.002445	0	0
LOC401010	401010	broad.mit.edu	37	2	132201535	132201535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:132201535G>A	uc002tst.2	-	0	933	c.467C>T	c.(466-468)tCc>tTc	p.S156F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CACCCGCAGGGACTCCTCCCC	0.567000														32			11		0	0	0.000978	0	0
MYH8	4626	broad.mit.edu	37	17	10296300	10296300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10296300C>T	uc002gmm.2	-	36	5406	c.5311G>A	c.(5311-5313)Gag>Aag	p.E1771K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1771					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTTCAGCTCCTCAGCCATC	0.483000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					132			51		0	0	0.003610	0	0
C22orf24	25775	broad.mit.edu	37	22	32333918	32333918	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:32333918G>A	uc003aly.3	-	1	302	c.135C>T	c.(133-135)gtC>gtT	p.V45V	C22orf24_uc003alx.3_Intron	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	Homo sapiens chromosome 22 open reading frame 24 (C22orf24), mRNA.	45						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						tTAACCAAGAGACAGCGTAGT	0.468000														91			32		0	0	0.001512	0	0
UBE2E1	7324	broad.mit.edu	37	3	23848885	23848885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:23848885C>T	uc003cch.3	+	1	354	c.125C>T	c.(124-126)tCc>tTc	p.S42F	UBE2E1_uc003cci.3_Missense_Mutation_p.S42F	NM_003341	NP_003332	P51965	UB2E1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 1 (UBE2E1), transcript variant 1, mRNA.	42					ISG15-protein conjugation|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						AGCAAAAACTCCAAACTCCTC	0.493000														64			24		0	0	0.005443	0	0
PLS3	5358	broad.mit.edu	37	X	114877744	114877744	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:114877744C>T	uc004eqe.3	+	9	1241	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PLS3_uc010nqg.3_Silent_p.F151F|PLS3_uc004eqd.3_Silent_p.F369F|PLS3_uc011mtf.2_Silent_p.F356F|PLS3_uc011mth.2_Silent_p.F324F|PLS3_uc011mtg.2_Silent_p.F342F|PLS3_uc011mti.2_Silent_p.F45F|PLS3_uc011mtj.2_Intron|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	369	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACTTAGCTTTCGTGGCTAACC	0.408000														16			20		0	0	0.001882	0	0
KCNK15	60598	broad.mit.edu	37	20	43379008	43379008	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:43379008G>A	uc002xmr.3	+	1	586	c.522G>A	c.(520-522)ggG>ggA	p.G174G		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	174						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGGCCCTCGGGGCCGTCGCCT	0.677000														26			20		0	0	0.007413	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285677	248285677	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248285677C>T	uc001idy.1	+	0	240	c.240C>T	c.(238-240)tcC>tcT	p.S80S						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		CTGCCTTCTCCTGGATCCTGG	0.448000														27			24		0	0	0.003330	0	0
NEK10	152110	broad.mit.edu	37	3	27393973	27393973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:27393973G>A	uc003cdt.2	-	3	389	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	NEK10_uc021wuk.1_Nonsense_Mutation_p.Q39*	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	39							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGCTTGATTGGACGTTCAAA	0.383000														14			4		0	0	0.001168	0	0
SDPR	8436	broad.mit.edu	37	2	192701079	192701079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:192701079G>A	uc002utb.3	-	1	1203	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	283						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTTTCCTGAGGATATTTTCTG	0.448000														113			186		0	0	0.003610	0	0
HMHA1	23526	broad.mit.edu	37	19	1068553	1068553	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1068553C>T	uc002lqz.1	+	1	462	c.231C>T	c.(229-231)ttC>ttT	p.F77F	HMHA1_uc010xgd.1_Silent_p.F93F|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	77					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGGCTTCCCCCTGTCGG	0.761000														15			11		0	0	0.000978	0	0
KRT25	147183	broad.mit.edu	37	17	38907519	38907519	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38907519G>A	uc002hve.3	-	3	790	c.729C>T	c.(727-729)gcC>gcT	p.A243A		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	243	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCACCCCGGGGGCTGCGTTCA	0.572000														17			10		0	0	0.006214	0	0
PLCB1	23236	broad.mit.edu	37	20	8609078	8609078	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:8609078G>A	uc002wnb.3	+	4	387	c.384_splice	c.e4+1	p.K128_splice	PLCB1_uc010zrb.1_Splice_Site_p.K27_splice|PLCB1_uc010gbv.1_Splice_Site_p.K128_splice|PLCB1_uc002wmz.1_Splice_Site_p.K128_splice|PLCB1_uc002wna.3_Splice_Site_p.K128_splice|PLCB1_uc002wnc.1_Splice_Site_p.K27_splice	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	128					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGTGGCCAAGGTATGGTGGA	0.453000														31			29		0	0	0.003755	0	0
GIF	2694	broad.mit.edu	37	11	59612876	59612876	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:59612876C>T	uc001noi.3	-	0	99	c.51G>A	c.(49-51)ggG>ggA	p.G17G	GIF_uc010rkz.1_Silent_p.G17G	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	17					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGGTACTAGTCCCAGCTGTAG	0.542000														21			28		0	0	0.002836	0	0
LAMC2	3918	broad.mit.edu	37	1	183209264	183209264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:183209264G>A	uc001gqa.2	+	20	3473	c.3159G>A	c.(3157-3159)atG>atA	p.M1053I	LAMC2_uc001gpz.4_Missense_Mutation_p.M1053I|LAMC2_uc010poa.2_Missense_Mutation_p.M753I	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1053	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGTGAGATGAGGGAAGTGG	0.512000														47			30		0	0	0.002096	0	0
PCDH20	64881	broad.mit.edu	37	13	61985483	61985483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:61985483C>T	uc001vid.4	-	1	3113	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PCDH20_uc010thj.2_Missense_Mutation_p.E917K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	890					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGATGCTTTTCCCCTTTCCTT	0.418000														45			17		0	0	0.007413	0	0
NOMO2	283820	broad.mit.edu	37	16	18549918	18549918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:18549918G>A	uc002dfe.3	-	10	1222	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	NOMO2_uc002dff.3_Missense_Mutation_p.L384F|NOMO2_uc010bvx.3_Missense_Mutation_p.L217F	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	384						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TCAAAGTAGAGGTGCTCTTTC	0.448000														65			39		0	0	0.003610	0	0
GPR101	83550	broad.mit.edu	37	X	136113378	136113378	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:136113378G>A	uc011mwh.2	-	0	456	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	152						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGTGCCATAGAGGAGCAGGT	0.577000														22			36		0	0	0.006230	0	0
CILP2	148113	broad.mit.edu	37	19	19655218	19655219	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:19655218_19655219CC>TT	uc002nmw.4	+	7	1967_1968	c.1882_1883CC>TT	c.(1882-1884)ccc>TTc	p.P628F	CILP2_uc002nmv.4_Missense_Mutation_p.P622F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	622						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCGTCTGCCCCCAGTGACCTG	0.708000														103			40		0	0	0.004672	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368158	111368158	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:111368158C>T	uc003puq.3	-	0	600	c.465G>A	c.(463-465)gaG>gaA	p.E155E						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		TCTCCAAGCCCTCAAATCGGG	0.507000														3			15		0	0	0.004990	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711305	155711305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:155711305C>T	uc002tyv.1	+	2	1181	c.986C>T	c.(985-987)cCt>cTt	p.P329L	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	329					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CGTTTTTTTCCTGTAATTTCC	0.388000														19			5		0	0	0.001168	0	0
LRCH3	84859	broad.mit.edu	37	3	197585732	197585732	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:197585732T>C	uc011bul.1	+	14	1677	c.1672T>C	c.(1672-1674)Tgt>Cgt	p.C558R	LRCH3_uc003fyj.1_Missense_Mutation_p.C558R|LRCH3_uc011bum.1_Intron|LRCH3_uc011bun.1_Missense_Mutation_p.C404R|LRCH3_uc003fyk.2_Missense_Mutation_p.C153R	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	558						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCAAGTGGGCTGTGCTGCTAC	0.453000														43			15		0	0	0.004007	0	0
NUP210L	91181	broad.mit.edu	37	1	154002460	154002460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:154002460C>T	uc001fdw.3	-	27	3839	c.3767G>A	c.(3766-3768)aGt>aAt	p.S1256N	NUP210L_uc009woq.3_Missense_Mutation_p.S165N|NUP210L_uc010peh.2_Missense_Mutation_p.S1256N	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1256						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GACCTTGATACTGGTCCTGCC	0.443000														37			27		0	0	0.006320	0	0
CDC25A	993	broad.mit.edu	37	3	48215915	48215915	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:48215915G>A	uc003csh.1	-	8	1153	c.789C>T	c.(787-789)tcC>tcT	p.S263S	CDC25A_uc003csi.1_Silent_p.S223S|CDC25A_uc021wxk.1_Silent_p.S222S	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	263					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AGCTACACAGGGAAGGGGAGT	0.468000														32			10		0	0	0.000673	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226219	79226220	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79226219_79226220GG>AA	uc002jzz.1	-	12	2095_2096	c.1720_1721CC>TT	c.(1720-1722)cct>TTt	p.P574F	SLC38A10_uc002jzy.1_Missense_Mutation_p.P492F|SLC38A10_uc002kab.3_Missense_Mutation_p.P574F	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	574					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGATCTTCAGGAAGATCACCC	0.624000														58			31		0	0	0.004672	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601028	48601028	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48601028G>A	uc010wmr.2	+	11	1809	c.1647G>A	c.(1645-1647)agG>agA	p.R549R	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	512					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGGTCTTCAGGGAATTTTGGG	0.478000														38			64		0	0	0.003610	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002789	109002789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:109002789G>A	uc002tea.1	+	5	1130	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.E178K	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	253					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GATTCCTGCTGAAATCATGGA	0.303000														108			47		0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140481403	140481403	+	Missense_Mutation	SNP	C	T	T	rs121913358		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:140481403C>T	uc003vwc.4	-	10	1466	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(30)|p.G469V(17)|p.G469R(13)|p.G469S(12)|p.G469E(7)|p.F468C(1)|p.F468S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAGACTGTTCCAAATGATCCA	0.373000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					110			24		0	0	0.003954	0	0
ARSJ	79642	broad.mit.edu	37	4	114823996	114823996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:114823996G>A	uc003ibq.1	-	1	2122	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	ARSJ_uc010imu.1_Missense_Mutation_p.R412C|ARSJ_uc010imv.1_Missense_Mutation_p.R240C	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	412						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGGGGTGAGCGAAGACCCTCA	0.473000														40			31		0	0	0.001786	0	0
OR2T10	127069	broad.mit.edu	37	1	248757031	248757031	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248757031G>A	uc010pzn.2	-	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCAACAGGAAAAAGTCAC	0.448000														30			20		0	0	0.001882	0	0
EML5	161436	broad.mit.edu	37	14	89202718	89202718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:89202718G>A	uc021ryf.1	-	6	1288	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	EML5_uc021ryg.1_Missense_Mutation_p.R347C	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	347						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGACCGAACGATCATCACTT	0.423000														158			150		0	0	0.003610	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128823	99128823	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:99128823C>T	uc003uqv.3	+	6	1595	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*	ZKSCAN5_uc010lfx.3_Nonsense_Mutation_p.Q491*|ZKSCAN5_uc003uqw.3_Nonsense_Mutation_p.Q491*|ZKSCAN5_uc003uqx.3_Nonsense_Mutation_p.Q418*|ZKSCAN5_uc003uqy.3_Nonsense_Mutation_p.Q227*	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	491					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAAAAACCCAAAGAAATGT	0.358000														179			35		0	0	0.001951	0	0
CUL4B	8450	broad.mit.edu	37	X	119694132	119694132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:119694132G>A	uc004esw.3	-	2	853	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CUL4B_uc004esv.3_Missense_Mutation_p.S121F	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	139	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.S138S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ggaggaggaggaggaTTCCTC	0.478000														49			27		0	0	0.001512	0	0
PEAK1	79834	broad.mit.edu	37	15	77473107	77473107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:77473107C>T	uc021sqy.1	-	4	1738	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	PEAK1_uc002bcn.2_Missense_Mutation_p.E388K|PEAK1_uc021sqz.1_5'Flank	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	388	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GAGGGACTTTCATAATTGGGC	0.418000														20			6		0	0	0.001168	0	0
P2RY14	9934	broad.mit.edu	37	3	150931652	150931652	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:150931652G>A	uc003eyr.1	-	2	931	c.453C>T	c.(451-453)ctC>ctT	p.L151L	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Silent_p.L151L|P2RY14_uc021xfz.1_Silent_p.L151L	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	151						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.L151I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAACAGCAAGGAGGAGCATGA	0.393000														12			4		0	0	0.000248	0	0
TRANK1	9881	broad.mit.edu	37	3	36897178	36897178	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:36897178C>T	uc003cgj.3	-	11	4151	c.3903G>A	c.(3901-3903)ctG>ctA	p.L1301L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1301					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTCCAAATCAGTGCAGGGT	0.458000														30			45		0	0	0.003610	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545731	234545731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234545731C>T	uc002vur.3	+	0	609	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S188F	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	191					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCTCCTCTTTCCTATGTCCCC	0.463000														20			14		0	0	0.004007	0	0
IGFBP2	3485	broad.mit.edu	37	2	217525339	217525339	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:217525339A>G	uc021vwn.1	+	1	622	c.502A>G	c.(502-504)Aac>Gac	p.N168D	IGFBP2_uc010zju.2_Missense_Mutation_p.N168D	NM_000597	NP_000588	P18065	IBP2_HUMAN	Homo sapiens insulin-like growth factor binding protein 2, 36kDa (IGFBP2), mRNA.	168					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CAGCACCATGAACATGTTGGG	0.597000														21			15		0	0	0.004990	0	0
ARL5B	221079	broad.mit.edu	37	10	18957538	18957538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:18957538C>T	uc001iqd.1	+	2	441	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_178815	NP_848930	Q96KC2	ARL5B_HUMAN	Homo sapiens ADP-ribosylation factor-like 5B (ARL5B), mRNA.	63					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						CACTCATTTTCTTATGTGGGA	0.368000														19			17		0	0	0.006122	0	0
DOCK10	55619	broad.mit.edu	37	2	225684176	225684176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:225684176G>A	uc010fwz.1	-	28	3493	c.3254C>T	c.(3253-3255)tCc>tTc	p.S1085F	DOCK10_uc002vob.2_Missense_Mutation_p.S1079F|DOCK10_uc002voc.2_5'Flank	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1085							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGGTCACCGGAGGAGAACAT	0.363000														39			56		0	0	0.003610	0	0
BIN2	51411	broad.mit.edu	37	12	51685491	51685491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:51685491G>A	uc001ryg.3	-	9	1451	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	BIN2_uc009zlz.3_Missense_Mutation_p.P435S|BIN2_uc001ryh.3_Missense_Mutation_p.P343S|BIN2_uc010sng.2_Missense_Mutation_p.P441S	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	467	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCTGGATTAGGAGAGACCTCT	0.542000														28			11		0	0	0.000978	0	0
ABCC6	368	broad.mit.edu	37	16	16297344	16297344	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:16297344G>A	uc002den.4	-	7	958	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.F319F	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	307					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGGTAGAATGGAACACCTGCC	0.597000														55			28		0	0	0.002445	0	0
RAG1	5896	broad.mit.edu	37	11	36597162	36597162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:36597162G>A	uc021qgb.1	+	0	2308	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.E770K	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	770					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCCTTACCATGAGTCTGTGGA	0.498000									Familial Hemophagocytic Lymphohistiocytosis					10			10		0	0	0.000673	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466767	78466767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:78466767C>T	uc002bdh.3	-	11	2008	c.1802G>A	c.(1801-1803)gGg>gAg	p.G601E	ACSBG1_uc010umx.2_Missense_Mutation_p.G359E|ACSBG1_uc010umw.2_Missense_Mutation_p.G597E	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	601					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	p.I600I(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTCTGGTCCCCAATGAGCAT	0.592000														64			22		0	0	0.002780	0	0
C14orf133	63894	broad.mit.edu	37	14	77919712	77919712	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77919712G>A	uc001xtt.2	-	3	543	c.126C>T	c.(124-126)ctC>ctT	p.L42L	C14orf133_uc001xtu.2_Silent_p.L42L|C14orf133_uc001xtv.2_Silent_p.L42L|C14orf133_uc021rwu.1_Silent_p.L42L|C14orf133_uc010tvj.2_Silent_p.L42L	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	42					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CGAAGTCTCGGAGGCTGTTCA	0.532000														265			74		0	0	0.003610	0	0
ABCA13	154664	broad.mit.edu	37	7	48391796	48391796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:48391796C>T	uc003toq.2	+	30	10424	c.10400C>T	c.(10399-10401)tCc>tTc	p.S3467F	ABCA13_uc010kys.1_Missense_Mutation_p.S541F|ABCA13_uc003tos.1_Missense_Mutation_p.S293F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3467					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGCAATTCCTTATTCGAC	0.463000														21			23		0	0	0.003954	0	0
PCDH19	57526	broad.mit.edu	37	X	99661937	99661937	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:99661937G>A	uc010nmz.3	-	0	3335	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	PCDH19_uc004efw.4_Silent_p.I553I|PCDH19_uc004efx.4_Silent_p.I553I	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	553	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGACGTCGAGGATGATGACCC	0.587000														152			62		0	0	0.003610	0	0
SMTN	6525	broad.mit.edu	37	22	31486825	31486825	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:31486825C>T	uc003ajl.2	+	8	1138	c.897C>T	c.(895-897)tcC>tcT	p.S299S	SMTN_uc003ajk.2_Silent_p.S299S|SMTN_uc003ajm.2_Silent_p.S299S|SMTN_uc011ale.2_Silent_p.S353S|SMTN_uc011alf.2_Silent_p.S355S|SMTN_uc003ajn.2_Silent_p.S291S|SMTN_uc011alg.2_5'Flank|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	299					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCAACGCTCCCTGTCGGTGC	0.622000														79			54		0	0	0.003610	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529428	5529428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5529428C>T	uc021qcw.1	-	0	1361	c.1361G>A	c.(1360-1362)aGg>aAg	p.R454K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.R454K	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	454										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATGGAACCCTGTTGGCAGA	0.547000														13			5		0	0	0.001984	0	0
MYH8	4626	broad.mit.edu	37	17	10317725	10317725	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10317725G>A	uc002gmm.2	-	9	977	c.882C>T	c.(880-882)tcC>tcT	p.S294S	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	294	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTCTTATTGGAAGTGATCT	0.323000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					10			10		0	0	0.006214	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787531	73787531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:73787531C>T	uc011dyh.2	+	4	1186	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_uc003pgj.4_Missense_Mutation_p.S280L|KCNQ5_uc011dyi.2_Missense_Mutation_p.S280L|KCNQ5_uc010kat.3_Missense_Mutation_p.S280L|KCNQ5_uc003pgk.3_Missense_Mutation_p.S280L|KCNQ5_uc011dyj.2_Missense_Mutation_p.S280L|KCNQ5_uc011dyk.2_Missense_Mutation_p.S39L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	280					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S280L(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTTATTTTTTCGTCTTTCCTT	0.338000														1			8		0	0	0.003080	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558522	140558522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140558522C>T	uc011dai.2	+	0	1152	c.907C>T	c.(907-909)Cga>Tga	p.R303*	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGAAATTCGACTAAAGAA	0.393000														75			110		0	0	0.003610	0	0
RUFY2	55680	broad.mit.edu	37	10	70143670	70143670	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:70143670A>G	uc001job.3	-	10	1255	c.928_splice	c.e10-1	p.V310_splice	RUFY2_uc001jnz.1_Splice_Site|RUFY2_uc001joc.3_Splice_Site_p.V241_splice|RUFY2_uc010qiw.2_Splice_Site_p.V217_splice|RUFY2_uc001jod.1_Splice_Site_p.V275_splice	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	324						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TACTTTGGTAACCTAGGAAGA	0.353000														2			35		0	0	0.003271	0	0
HNF1B	6928	broad.mit.edu	37	17	36061037	36061037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:36061037C>T	uc002hok.4	-	6	1706	c.1485G>A	c.(1483-1485)atG>atA	p.M495I	HNF1B_uc021tvu.1_Intron|HNF1B_uc010wdi.2_Missense_Mutation_p.M469I|HNF1B_uc021tvv.1_Missense_Mutation_p.M495I|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	495					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GCTGCTGGGCCATGTGGCTGC	0.657000														65			40		0	0	0.001951	0	0
HECW2	57520	broad.mit.edu	37	2	197081817	197081817	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:197081817C>T	uc002utm.1	-	27	4592	c.4409_splice	c.e27-1	p.G1470_splice	HECW2_uc002utl.1_Splice_Site_p.G1114_splice	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1470	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTCATGGTATCCTATCAAACC	0.398000														39			22		0	0	0.002299	0	0
ABCA3	21	broad.mit.edu	37	16	2333216	2333217	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:2333216_2333217GG>AA	uc002cpy.1	-	25	4717_4718	c.4005_4006CC>TT	c.(4003-4008)atcctc>atTTtc	p.L1336F	ABCA3_uc010bsk.1_Missense_Mutation_p.L1278F	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1336					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGGCGCAGAGGATGCCCCTGA	0.658000														36			10		0	0	0.004672	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377186	104377186	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:104377186G>A	uc003vce.3	+	1	634	c.510G>A	c.(508-510)cgG>cgA	p.R170R	LHFPL3_uc003vcf.3_Silent_p.R170R	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	156						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						AAGTAAAACGGATGTGTGGAG	0.458000														20			6		0	0	0.001984	0	0
CACNA1F	778	broad.mit.edu	37	X	49068393	49068393	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49068393G>A	uc004dnb.3	-	34	4160	c.4098C>T	c.(4096-4098)ttC>ttT	p.F1366F	CACNA1F_uc010nip.3_Silent_p.F1355F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1366					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GAAAGGTCTGGAAGTTGTTGT	0.567000														46			25		0	0	0.006320	0	0
ZNF845	91664	broad.mit.edu	37	19	53855283	53855283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:53855283C>T	uc010ydv.1	+	3	1472	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	ZNF845_uc010ydw.1_Missense_Mutation_p.S452L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGTTTCAAATCGAACCTTGAA	0.393000														41			11		0	0	0.000673	0	0
OR13C3	138803	broad.mit.edu	37	9	107298641	107298641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:107298641G>A	uc004bcb.1	-	0	454	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCCACATAACGATCAAATGCC	0.473000														18			13		0	0	0.003163	0	0
COL3A1	1281	broad.mit.edu	37	2	189866135	189866135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:189866135C>T	uc002uqj.1	+	32	2413	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	766	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTACTGGTCCTATTGGTCC	0.358000														32			34		0	0	0.006999	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189291	102189291	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:102189291C>T	uc003dvt.1	+	8	1135	c.1035C>T	c.(1033-1035)ccC>ccT	p.P345P	ZPLD1_uc003dvs.1_Silent_p.P329P|ZPLD1_uc011bhg.1_Silent_p.P329P	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	329						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTGGAGCCCCCAGAGCTCTT	0.507000														18			6		0	0	0.003080	0	0
PVRL3	25945	broad.mit.edu	37	3	110852485	110852485	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:110852485C>A	uc003dxt.2	+	5	1332	c.1073C>A	c.(1072-1074)cCt>cAt	p.P358H	PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_Intron	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	358					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CCATTAGATCCTCCTACTACT	0.438000														15			7		0.000157383	0.000297649	0.003080	1	0
SYT7	9066	broad.mit.edu	37	11	61290646	61290646	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:61290646G>A	uc001nrv.3	-	7	1060	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	SYT7_uc009ynr.3_Silent_p.S411S	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	336	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGAAGGCGAAGGACTCATTGA	0.532000														54			92		0	0	0.003610	0	0
TCF4	6925	broad.mit.edu	37	18	52899793	52899793	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:52899793C>T	uc002lga.3	-	17	1962	c.1902G>A	c.(1900-1902)aaG>aaA	p.K634K	TCF4_uc021ukg.1_Silent_p.K372K|TCF4_uc021ukh.1_Silent_p.K372K|TCF4_uc002lfw.4_Silent_p.K372K|TCF4_uc010xdu.1_Silent_p.K402K|TCF4_uc010xdv.1_Silent_p.K402K|TCF4_uc021uki.1_Silent_p.K461K|TCF4_uc002lfx.2_Silent_p.K461K|TCF4_uc010xdw.1_Silent_p.K402K|TCF4_uc002lfy.2_Silent_p.K490K|TCF4_uc010xdx.1_Silent_p.K508K|TCF4_uc021ukj.1_Silent_p.K472K|TCF4_uc021ukk.1_Silent_p.K472K|TCF4_uc021ukl.1_Silent_p.K529K|TCF4_uc002lfz.2_Silent_p.K532K|TCF4_uc010dph.1_Silent_p.K532K|TCF4_uc010dpi.3_Silent_p.K538K|TCF4_uc010xdy.1_Silent_p.K508K	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	532	Class A specific domain.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CATCTAATTTCTTGTCCTCCG	0.423000														31			16		0	0	0.004007	0	0
PDE4C	5143	broad.mit.edu	37	19	18327613	18327613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:18327613C>T	uc010xqc.2	-	11	1903	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	PDE4C_uc002nik.4_Missense_Mutation_p.D475N|PDE4C_uc002nil.4_Missense_Mutation_p.D475N|PDE4C_uc002nig.4_Missense_Mutation_p.D190N|PDE4C_uc002nih.4_Missense_Mutation_p.D245N|PDE4C_uc010ebk.3_Missense_Mutation_p.D369N|PDE4C_uc002nii.4_Missense_Mutation_p.D443N|PDE4C_uc002nif.4_Missense_Mutation_p.D244N|PDE4C_uc010ebl.3_Missense_Mutation_p.D189N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	475					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGGAAGATATCGCAGTTCTCT	0.602000														122			42		0	0	0.003610	0	0
ABRA	137735	broad.mit.edu	37	8	107773477	107773477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:107773477C>T	uc003ymm.4	-	1	988	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	312					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.D312N(2)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AAGCACATGTCCATCATTTCC	0.488000														41			44		0	0	0.001951	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169099	50169099	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50169099C>T	uc002ppa.3	+	0	701	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	IRF3_uc002poy.2_5'UTR|IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_5'UTR|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_5'UTR|IRF3_uc021uxo.1_5'UTR|IRF3_uc002pou.3_5'UTR|IRF3_uc010end.2_5'UTR|IRF3_uc002poz.1_5'UTR|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Silent_p.L7L	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	7					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		GCCCGCTGGGCTGTTCCCGCC	0.537000														78			79		0	0	0.003610	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735816	55735816	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55735816T>A	uc010rit.2	-	0	124	c.124A>T	c.(124-126)Att>Ttt	p.I42F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GCGGGGTGAATTTTTATTAGT	0.338000														55			28		0	0	0.007291	0	0
TEX15	56154	broad.mit.edu	37	8	30702396	30702396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:30702396C>T	uc003xil.3	-	0	4138	c.4138G>A	c.(4138-4140)Gaa>Aaa	p.E1380K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1380										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCTCTTTTTCTCTACAGCTC	0.403000														26			10		0	0	0.006214	0	0
FIBIN	387758	broad.mit.edu	37	11	27016390	27016390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:27016390C>T	uc001mrd.3	+	0	763	c.317C>T	c.(316-318)tCc>tTc	p.S106F		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	106						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AAAAGCATCTCCTACGACCTA	0.632000														33			19		0	0	0.001216	0	0
ABCA2	20	broad.mit.edu	37	9	139912294	139912294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:139912294G>A	uc004ckm.1	-	15	2293	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	ABCA2_uc022bpy.1_Missense_Mutation_p.S649F|ABCA2_uc022bpz.1_Missense_Mutation_p.S719F|ABCA2_uc011mem.1_Missense_Mutation_p.S718F|ABCA2_uc004ckl.1_Missense_Mutation_p.S649F|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	718					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CATGGCCACGGAGTAGACCCA	0.672000														31			5		0	0	0.004482	0	0
NONO	4841	broad.mit.edu	37	X	70519838	70519838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:70519838G>A	uc004dzo.3	+	12	2038	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.G443E|NONO_uc004dzp.3_Missense_Mutation_p.G443E|NONO_uc011mpv.2_Missense_Mutation_p.G354E|NONO_uc004dzq.3_Missense_Mutation_p.G312E|ITGB1BP2_uc004dzr.1_5'Flank|ITGB1BP2_uc004dzs.1_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	443					DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					ACAATGGAAGGAATTGGGGCA	0.488000			T	TFE3	papillary renal cancer									31			22		0	0	0.004656	0	0
THSD1	55901	broad.mit.edu	37	13	52952717	52952717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:52952717G>A	uc001vgo.3	-	4	1933	c.1388C>T	c.(1387-1389)tCg>tTg	p.S463L	THSD1_uc001vgp.3_Missense_Mutation_p.S410L|THSD1_uc010tgz.2_Missense_Mutation_p.S84L	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	463						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCCTCGTCCGAGTTCTTCCG	0.642000														22			48		0	0	0.003610	0	0
TTC7B	145567	broad.mit.edu	37	14	91044585	91044585	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:91044585G>A	uc001xyp.3	-	18	2297	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	TTC7B_uc001xyo.3_Silent_p.L169L|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	725							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACATTGGGAAGAGGTTGGCAG	0.577000														75			56		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152283592	152283592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152283592G>A	uc001ezu.1	-	2	3806	c.3770C>T	c.(3769-3771)tCa>tTa	p.S1257L	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1257	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q1256K(1)		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)			GGACCCCGATGATTGTTCCTG	0.567000									Ichthyosis					69			64		0	0	0.003610	0	0
NLRC5	84166	broad.mit.edu	37	16	57054813	57054814	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:57054813_57054814CC>TT	uc021tiu.1	+	1	316_317	c.189_190CC>TT	c.(187-192)gtccag>gtTTag	p.Q64*	NLRC5_uc021tit.1_Nonsense_Mutation_p.Q64*|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	64					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCTGCATGTCCAGGGTTCGGA	0.535000														16			22		0	0	0.004672	0	0
C12orf69	440087	broad.mit.edu	37	12	14959305	14959305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:14959305C>T	uc001rck.1	-	1	383	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	WBP11_uc001rci.3_5'Flank|C12orf60_uc001rcj.4_Intron|C12orf69_uc021qvp.1_Missense_Mutation_p.E104K	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	Homo sapiens chromosome 12 open reading frame 69 (C12orf69), mRNA.	104						integral to membrane				large_intestine(1)|lung(1)|skin(1)	3						GTTTCCTTTTCCTTAATATCC	0.408000														127			66		0	0	0.003610	0	0
COTL1	23406	broad.mit.edu	37	16	84623783	84623783	+	Silent	SNP	G	A	A	rs141354958		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84623783G>A	uc002fid.3	-	2	395	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_021149	NP_066972	Q14019	COTL1_HUMAN	Homo sapiens coactosin-like 1 (Dictyostelium) (COTL1), mRNA.	82	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CGTTCTCACCGATCCACGTGA	0.592000														49			20		0	0	0.001882	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316153	73316153	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:73316153C>G	uc002siu.4	-	1	963	c.722G>C	c.(721-723)cGc>cCc	p.R241P	RAB11FIP5_uc002sit.4_Missense_Mutation_p.R163P	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	241					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGACGACTTGCGCAGCTTGTT	0.642000														105			29		0	0	0.002096	0	0
MLL3	58508	broad.mit.edu	37	7	151851430	151851430	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:151851430G>A	uc003wla.3	-	46	12280	c.12061C>T	c.(12061-12063)Ctg>Ttg	p.L4021L	MLL3_uc003wkz.3_Silent_p.L3139L|MLL3_uc003wkx.3_Silent_p.L179L|MLL3_uc003wky.3_Silent_p.L1585L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4021					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.L4021L(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCAATGACAGATCTGGATAC	0.493000			N		medulloblastoma									81			22		0	0	0.003330	0	0
UNC79	57578	broad.mit.edu	37	14	94046543	94046543	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94046543T>A	uc001ybv.1	+	15	2034	c.1951T>A	c.(1951-1953)Tca>Aca	p.S651T	UNC79_uc001ybs.1_Missense_Mutation_p.S651T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	828						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCACAGCTTATCAAAGGACAT	0.418000														28			33		0	0	0.002836	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000282	46000282	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:46000282G>A	uc002zfl.1	-	0	200	c.174C>T	c.(172-174)ccC>ccT	p.P58P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	58	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCAGGGGCTGGGCTCACAGG	0.731000														75			16		0	0	0.004007	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20062042	20062042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:20062042C>T	uc003wzp.3	+	1	398	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	62					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GATCTTAGATCATGTTAAGGT	0.303000														59			13		0	0	0.001855	0	0
STARD6	147323	broad.mit.edu	37	18	51863607	51863607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:51863607C>T	uc010xdt.2	-	2	155	c.155G>A	c.(154-156)gGg>gAg	p.G52E		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	52	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGGAATTATCCCTTCAACACG	0.318000														51			9		0	0	0.006214	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133825	55133825	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:55133825G>A	uc003han.4	+	6	1369	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Silent_p.R240R|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	346	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CACCTCCCAGGATATCCTGGC	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				4			7		0	0	0.001984	0	0
UBR5	51366	broad.mit.edu	37	8	103326079	103326079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:103326079G>A	uc003ykr.2	-	15	2415	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	UBR5_uc003yks.2_Missense_Mutation_p.R654W	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	654					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.R654W(2)|p.R654L(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCACTTCCCGAAGAGACCAC	0.383000														146			34		0	0	0.006999	0	0
CCDC111	201973	broad.mit.edu	37	4	185606818	185606818	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:185606818C>T	uc003iwk.2	+	10	1708	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	CCDC111_uc003iwj.2_Silent_p.A424A|CCDC111_uc003iwm.2_Silent_p.A296A|CCDC111_uc003iwn.2_Silent_p.A165A	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	425					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTGGAAGAGCCCATAAGAGTA	0.269000														18			21		0	0	0.002299	0	0
GPSM1	26086	broad.mit.edu	37	9	139252560	139252560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:139252560G>A	uc004chd.2	+	13	2136	c.1916G>A	c.(1915-1917)aGg>aAg	p.R639K	GPSM1_uc011mdu.1_Missense_Mutation_p.R130K|GPSM1_uc022bpn.1_Missense_Mutation_p.R130K|GPSM1_uc004che.2_Missense_Mutation_p.R130K	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	639	GoLoco 4.				cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CTCATTCAGAGGGTGCAGGCT	0.706000														21			29		0	0	0.007291	0	0
OR8A1	390275	broad.mit.edu	37	11	124440236	124440236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124440236C>T	uc010san.2	+	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CTCTGCTACTCCTCCGTCATT	0.468000														24			8		0	0	0.006214	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325107	79325107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:79325107C>T	uc010mpk.3	-	7	2207	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PRUNE2_uc022bih.1_Missense_Mutation_p.D517N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	695					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCTCTCCTATCAATGGAGCTT	0.448000														13			4		0	0	0.000248	0	0
POTEE	445582	broad.mit.edu	37	2	131976446	131976446	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:131976446C>T	uc002tsn.2	+	0	523	c.471C>T	c.(469-471)ctC>ctT	p.L157L	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	157							ATP binding										GAAAGGATCTCATCGTCATGC	0.577000														203			30		0	0	0.003755	0	0
CLDN17	26285	broad.mit.edu	37	21	31538579	31538579	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:31538579C>T	uc011acv.2	-	0	393	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	119					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTGAAGTTCCCAGAAGGTATG	0.517000														2			15		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9077700	9077700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9077700G>A	uc002mkp.3	-	2	9950	c.9746C>T	c.(9745-9747)tCc>tTc	p.S3249F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3250	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q3248*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGGCTGTGGACTGAAGGGT	0.512000														33			22		0	0	0.002780	0	0
ZNF620	253639	broad.mit.edu	37	3	40547794	40547794	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:40547794G>A	uc003ckk.3	+	2	101	c.-48_splice	c.e2-1		ZNF620_uc003ckl.3_Splice_Site	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTTCTCTTCAGTTTCACTTCT	0.582000														22			24		0	0	0.004656	0	0
SPRY3	10251	broad.mit.edu	37	X	155004261	155004261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:155004261G>A	uc022cio.1	+	0	728	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SPRY3_uc004fnq.1_Missense_Mutation_p.G243E	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	243	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTACCCGTGGATGCCTCCAT	0.592000														107			79		0	0	0.003610	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243560	47243560	+	Missense_Mutation	SNP	G	A	A	rs147132109		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:47243560G>A	uc002ion.2	+	8	1278	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	B4GALNT2_uc010wlt.1_Missense_Mutation_p.E321K|B4GALNT2_uc010wlu.1_Missense_Mutation_p.E347K	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	407					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCTCTTCAACGAGGAGACCAA	0.493000														32			14		0	0	0.004007	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147076	26147076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:26147076G>A	uc002dof.3	+	1	1270	c.878G>A	c.(877-879)aGg>aAg	p.R293K		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	293					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.R293T(3)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCCGTGACCAGGGCCATCTCT	0.527000														15			11		0	0	0.001368	0	0
MANBA	4126	broad.mit.edu	37	4	103647759	103647759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:103647759G>A	uc003hwg.3	-	1	359	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	MANBA_uc011ces.2_Missense_Mutation_p.P87S	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	87					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ATTTCAAAGGGGATTTTAAAT	0.303000														40			30		0	0	0.002836	0	0
SLC4A10	57282	broad.mit.edu	37	2	162821573	162821573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:162821573G>A	uc002ubx.4	+	22	3233	c.3049G>A	c.(3049-3051)Gta>Ata	p.V1017I	SLC4A10_uc010zcs.2_Missense_Mutation_p.V998I|SLC4A10_uc002uby.4_Missense_Mutation_p.V987I	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1017					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTAGCCCTGGTATTTGTAAG	0.373000														21			14		0	0	0.002450	0	0
WDR66	144406	broad.mit.edu	37	12	122396930	122396930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:122396930C>T	uc009zxk.3	+	12	2222	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L	WDR66_uc021rfh.1_Missense_Mutation_p.P688L	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	688							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGCCCAGAGCCTTTCAAATAT	0.433000														128			61		0	0	0.003610	0	0
SYT16	83851	broad.mit.edu	37	14	62567374	62567374	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:62567374G>A	uc001xfu.1	+	5	2084	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K	SYT16_uc010tse.1_Silent_p.K187K	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	629										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGGAGATGAAGGAAACCAAAG	0.498000														10			10		0	0	0.000978	0	0
ALPL	249	broad.mit.edu	37	1	21903933	21903933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:21903933G>A	uc001bet.3	+	11	1624	c.1367G>A	c.(1366-1368)gGg>gAg	p.G456E	ALPL_uc010odo.2_Missense_Mutation_p.G401E|ALPL_uc010odp.2_Missense_Mutation_p.G379E|ALPL_uc010odn.2_Missense_Mutation_p.G404E|ALPL_uc001beu.4_Missense_Mutation_p.G456E	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	456			G -> R (in HOPS; loss of activity).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	ACCCACGGCGGGGAGGACGTG	0.677000														22			15		0	0	0.004990	0	0
SPTA1	6708	broad.mit.edu	37	1	158631199	158631199	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158631199C>T	uc001fst.1	-	18	2664	c.2465_splice	c.e18-1	p.G822_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	822					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGGTCCTTTCCTGCAGAGGA	0.428000														119			30		0	0	0.002445	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147274	26147274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:26147274G>A	uc002dof.3	+	1	1468	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	359					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGTGGTGAGCGACTCATTGTG	0.498000														7			5		0	0	0.001168	0	0
NAP1L4	4676	broad.mit.edu	37	11	2976993	2976993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:2976993G>A	uc010qxm.2	-	11	1180	c.896C>T	c.(895-897)tCc>tTc	p.S299F	NAP1L4_uc001lxb.3_5'Flank|NAP1L4_uc001lxc.3_Missense_Mutation_p.S299F|NAP1L4_uc010qxn.2_Missense_Mutation_p.S299F	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	299					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCCATCCCCGGATGCTAGAAA	0.358000														175			87		0	0	0.003610	0	0
SLC6A19	340024	broad.mit.edu	37	5	1201909	1201909	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:1201909C>T	uc003jbw.4	+	0	200	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	48					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTGGGCTTCTGCGTGGGCC	0.697000														26			10		0	0	0.000673	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140165977	140165977	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140165977G>A	uc003lhb.2	+	0	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S	PCDHAC2_uc003lha.2_Silent_p.S34S|PCDHAC2_uc003lgz.3_Silent_p.S34S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	47					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCGATCCCGGAGG	0.657000														81			37		0	0	0.003755	0	0
CAPN12	147968	broad.mit.edu	37	19	39233680	39233680	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:39233680C>T	uc002ojd.1	-	1	609	c.300G>A	c.(298-300)ggG>ggA	p.G100G		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	100	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.G100G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CACCCAGGCTCCCCTGACACA	0.592000														46			15		0	0	0.007413	0	0
COL20A1	57642	broad.mit.edu	37	20	61937321	61937321	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:61937321G>A	uc011aau.2	+	4	526	c.426G>A	c.(424-426)ggG>ggA	p.G142G	COL20A1_uc011aav.2_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	142					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCACACGGGGAGCCCAGACC	0.642000														52			17		0	0	0.004007	0	0
PTPRT	11122	broad.mit.edu	37	20	40757460	40757460	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:40757460G>A	uc002xkg.3	-	18	2965	c.2781C>T	c.(2779-2781)tcC>tcT	p.S927S	PTPRT_uc010ggj.3_Silent_p.S946S|PTPRT_uc010ggi.3_Silent_p.S130S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	927	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D927N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCTCACCCGGGAATGGTCGT	0.517000														11			10		0	0	0.002450	0	0
HRC	3270	broad.mit.edu	37	19	49657765	49657765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:49657765C>T	uc002pmv.3	-	0	917	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	244	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.E244E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcatcttcttcatGGCCTTGG	0.522000														36			14		0	0	0.001855	0	0
KCTD8	386617	broad.mit.edu	37	4	44177058	44177058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:44177058G>A	uc003gwu.3	-	1	1455	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	391						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R391H(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGAGGGGCGATCCAATGTT	0.507000										HNSCC(17;0.042)				52			65		0	0	0.003610	0	0
ZFX	7543	broad.mit.edu	37	X	24229003	24229003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:24229003C>T	uc011mjv.2	+	9	2294	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L	ZFX_uc004dbd.2_Missense_Mutation_p.S643L|ZFX_uc004dbf.3_Missense_Mutation_p.S643L|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.S643L|ZFX_uc010nfx.2_Missense_Mutation_p.S414L|ZFX_uc010nfz.3_Missense_Mutation_p.S299L	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACAAGAGTTCGAACTCAAGT	0.433000														68			34		0	0	0.004289	0	0
BMP5	653	broad.mit.edu	37	6	55739218	55739218	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:55739218T>C	uc003pcq.3	-	0	1158	c.446A>G	c.(445-447)aAc>aGc	p.N149S	BMP5_uc011dxf.2_Missense_Mutation_p.N149S	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	149					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCAGAAAGTTGGTATCATG	0.448000														5			4		0	0	0.000602	0	0
MX1	4599	broad.mit.edu	37	21	42830496	42830496	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:42830496C>T	uc010goq.3	+	14	2146	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	MX1_uc002yzh.3_Silent_p.I600I|MX1_uc002yzi.3_Silent_p.I600I	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	600	GED.				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTTTGATCATCCAGTTCTTCA	0.587000														236			77		0	0	0.003610	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377522	61377522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:61377522C>T	uc002ljk.4	+	1	266	c.95C>T	c.(94-96)tCg>tTg	p.S32L	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Missense_Mutation_p.S32L	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	32					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TTCTTTTCTTCGCTGAGTCTG	0.428000														8			8		0	0	0.003080	0	0
COL22A1	169044	broad.mit.edu	37	8	139606344	139606344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:139606344G>A	uc003yvd.3	-	62	4978	c.4531C>T	c.(4531-4533)Cca>Tca	p.P1511S	COL22A1_uc011ljo.2_Missense_Mutation_p.P791S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1511	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCCGGCCTGGAAGCCCATCT	0.667000										HNSCC(7;0.00092)				63			44		0	0	0.003610	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893344	44893344	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:44893344G>A	uc003beu.1	-	1	430	c.93C>T	c.(91-93)tcC>tcT	p.S31S	LDOC1L_uc021wrd.1_Silent_p.S31S	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1-like (LDOC1L), mRNA.	31										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TGAGGCGCAGGGAGGTCAGGG	0.622000														59			18		0	0	0.006122	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138406744	138406744	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138406744A>G	uc003vuf.3	-	17	2275	c.2037T>C	c.(2035-2037)gaT>gaC	p.D679D	ATP6V0A4_uc003vug.3_Silent_p.D679D|ATP6V0A4_uc003vuh.3_Silent_p.D679D	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	679					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTCAGTGGCATCTTCTTGGA	0.488000														51			30		0	0	0.003755	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206767	104206768	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104206767_104206768GG>AA	uc001yof.1	-	11	2268_2269	c.1985_1986CC>TT	c.(1984-1986)acc>aTT	p.T662I	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Missense_Mutation_p.T529I	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	662	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGCTCTCCACGGTGCTGCCATC	0.653000														212			59		0	0	0.004672	0	0
ADH1B	125	broad.mit.edu	37	4	100231990	100231990	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:100231990C>T	uc003hus.4	-	7	1119	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	ADH1B_uc003hut.4_Silent_p.A305A|ADH1B_uc011ceh.2_Silent_p.A190A|ADH1B_uc011cei.1_Silent_p.A305A	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	345					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)	GGGTTATTAACGCATCCAGTG	0.338000														21			25		0	0	0.005443	0	0
SLC38A7	55238	broad.mit.edu	37	16	58710242	58710242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:58710242G>A	uc002eod.1	-	6	1112	c.719C>T	c.(718-720)tCc>tTc	p.S240F	SLC38A7_uc002eoc.1_Missense_Mutation_p.S240F|SLC38A7_uc010vil.1_Missense_Mutation_p.S151F|SLC38A7_uc002eoe.1_Missense_Mutation_p.S240F	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	240					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						AGCCATCCAGGAAGCCGGCCT	0.602000														36			47		0	0	0.003610	0	0
PTGDS	5730	broad.mit.edu	37	9	139873751	139873751	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:139873751C>T	uc004cke.3	+	3	1361	c.331_splice	c.e3+1	p.H111_splice	PTGDS_uc004ckd.3_Splice_Site	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	111					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	p.H111N(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCGGAGTCCCCGTGAGTGGGG	0.701000														20			32		0	0	0.001786	0	0
MGAM	8972	broad.mit.edu	37	7	141731519	141731519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141731519C>T	uc003vwy.3	+	12	1564	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	504	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATACCAATCCCAACTGTGC	0.358000														15			14		0	0	0.003163	0	0
MTL5	9633	broad.mit.edu	37	11	68518058	68518058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:68518058G>A	uc001ooc.3	-	1	211	c.71C>T	c.(70-72)cCc>cTc	p.P24L	MTL5_uc001ood.1_Missense_Mutation_p.P24L|MTL5_uc009ysi.1_Missense_Mutation_p.P24L|MTL5_uc001ooe.3_Missense_Mutation_p.P24L	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	24					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CGGACCCTCGGGGCTTAAGAG	0.697000														9			21		0	0	0.002299	0	0
XIST	7503	broad.mit.edu	37	X	73070030	73070030	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73070030G>A	uc004ebm.1	-	0		c.2559C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTCTTCAAAGGAAAATAGTTA	0.318000														34			17		0	0	0.004990	0	0
ACRC	93953	broad.mit.edu	37	X	70823771	70823771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:70823771C>T	uc004eae.2	+	7	1145	c.644C>T	c.(643-645)cCc>cTc	p.P215L	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	215	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TCGGATGTTCCCGACGACAAG	0.502000														133			43		0	0	0.003214	0	0
TG	7038	broad.mit.edu	37	8	134042153	134042153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:134042153G>A	uc003ytw.3	+	40	7165	c.7124G>A	c.(7123-7125)gGg>gAg	p.G2375E	TG_uc010mdw.3_Missense_Mutation_p.G1134E|TG_uc011ljb.2_Missense_Mutation_p.G744E|TG_uc011ljc.2_Missense_Mutation_p.G508E	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2375			G -> R (in TDH3).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGATTTGGCGGGGACCCTCGG	0.657000														48			17		0	0	0.007413	0	0
EVPLL	645027	broad.mit.edu	37	17	18284800	18284800	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:18284800G>A	uc002gte.3	+	2	438	c.183G>A	c.(181-183)cgG>cgA	p.R61R		NM_001145127	NP_001138599	A8MZ36	EVPLL_HUMAN	Homo sapiens envoplakin-like (EVPLL), mRNA.	61										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGCCCGGCGGCTCAAGCACC	0.687000														10			13		0	0	0.002450	0	0
NLRC3	197358	broad.mit.edu	37	16	3614227	3614227	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3614227C>T	uc010btn.3	-	4	1122	c.711G>A	c.(709-711)acG>acA	p.T237T		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	237	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTTTGGGTCCGTGCAGGCCA	0.617000														27			5		0	0	0.000602	0	0
MTUS2	23281	broad.mit.edu	37	13	29933610	29933610	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:29933610G>A	uc001usl.4	+	6	3205	c.3147_splice	c.e6+1	p.K1049_splice		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1039	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTTTAGAAAGGTGAGGCCCC	0.547000														13			8		0	0	0.003080	0	0
DNAH9	1770	broad.mit.edu	37	17	11648297	11648297	+	Missense_Mutation	SNP	C	T	T	rs149674795		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11648297C>T	uc002gne.3	+	30	6363	c.6295C>T	c.(6295-6297)Ccc>Tcc	p.P2099S	DNAH9_uc010coo.3_Missense_Mutation_p.P1393S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2099					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2099S(2)		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)		GGACCTCTTTCCCGCCCTGGA	0.557000														17			7		0	0	0.001984	0	0
HERC1	8925	broad.mit.edu	37	15	63958636	63958636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:63958636G>A	uc002amp.3	-	40	8390	c.8242C>T	c.(8242-8244)Cct>Tct	p.P2748S		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2748					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGAGGAGGAGGAGAAGTTGAA	0.428000														41			30		0	0	0.002445	0	0
CD300E	342510	broad.mit.edu	37	17	72613448	72613449	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72613448_72613449CC>TT	uc002jlb.2	-	1	333_334	c.196_197GG>AA	c.(196-198)gga>AAa	p.G66K		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	66	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTCTCTTCTCCCTTGGTCTCC	0.525000														21			28		0	0	0.004672	0	0
C12orf45	121053	broad.mit.edu	37	12	105388387	105388387	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:105388387C>T	uc001tlb.3	+	3	504	c.471C>T	c.(469-471)acC>acT	p.T157T		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	157										large_intestine(1)|lung(2)	3						CTGAAGTCACCATAGATAACA	0.368000														35			18		0	0	0.006122	0	0
HUWE1	10075	broad.mit.edu	37	X	53566768	53566768	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53566768C>A	uc004dsp.3	-	74	11884	c.11482G>T	c.(11482-11484)Gat>Tat	p.D3828Y	HUWE1_uc004dsn.3_Missense_Mutation_p.D2636Y|HUWE1_uc004dsq.1_Missense_Mutation_p.D128Y	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3828					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGGTTCCATCGGAGGCTGGA	0.502000														2			8		7.48243e-07	1.41916e-06	0.006214	1	0
MAPT	4137	broad.mit.edu	37	17	44049246	44049246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:44049246C>T	uc002ijr.4	+	2	477	c.155C>T	c.(154-156)aCt>aTt	p.T52I	MAPT_uc010dau.3_Missense_Mutation_p.T52I|MAPT_uc002ijs.4_Missense_Mutation_p.T52I|MAPT_uc002ijx.4_Missense_Mutation_p.T52I|MAPT_uc021tyv.1_Missense_Mutation_p.T52I|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Missense_Mutation_p.T52I|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	52					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CAGACCCCCACTGAGGACGGA	0.617000														32			11		0	0	0.002450	0	0
MMP13	4322	broad.mit.edu	37	11	102819764	102819764	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:102819764G>A	uc001phl.3	-	6	1070	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	347	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTCTGAAGATGAAGATGAGGT	0.458000														18			11		0	0	0.001368	0	0
ICA1L	130026	broad.mit.edu	37	2	203690476	203690476	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:203690476A>G	uc002uzh.1	-	3	341	c.177T>C	c.(175-177)gtT>gtC	p.V59V	ICA1L_uc002uzi.1_Silent_p.V59V|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Silent_p.V59V|ICA1L_uc002uzk.1_Silent_p.V59V	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	59	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGTCTCTTGAACAGAGTGAA	0.299000														330			165		0	0	0.003610	0	0
COL28A1	340267	broad.mit.edu	37	7	7480461	7480461	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:7480461T>A	uc003src.1	-	20	1799	c.1682A>T	c.(1681-1683)aAt>aTt	p.N561I	COL28A1_uc011jxe.1_Missense_Mutation_p.N244I|COL28A1_uc003srd.3_Missense_Mutation_p.N116I	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	561	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTGTCCTTGATTTCCTTTGCT	0.408000														35			5		0	0	0.001984	0	0
CCNA1	8900	broad.mit.edu	37	13	37007295	37007295	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:37007295C>T	uc001uvr.4	+	1	584	c.234C>T	c.(232-234)ccC>ccT	p.P78P	CCNA1_uc010teo.2_Silent_p.P34P|CCNA1_uc010abq.3_Silent_p.P34P|CCNA1_uc010abp.3_Silent_p.P34P|CCNA1_uc001uvs.4_Silent_p.P77P|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	78					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCCAGGATCCCCCGCAGAGGA	0.582000														59			29		0	0	0.007291	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222482	140222482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140222482G>A	uc003lhs.2	+	0	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E526K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	540	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTAGA	0.677000														173			96		0	0	0.003610	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579800	11579800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:11579800C>T	uc001ash.4	+	8	2201	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	PTCHD2_uc001asi.1_Missense_Mutation_p.S688F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	688					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGAGACGTGTCCCTGGTGTCT	0.657000														83			59		0	0	0.003610	0	0
GDF6	392255	broad.mit.edu	37	8	97156932	97156932	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:97156932G>A	uc003yhp.3	-	1	1327	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	409					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CGGGGTCCATGGAGTTCATCA	0.597000														30			35		0	0	0.004878	0	0
ERO1LB	56605	broad.mit.edu	37	1	236384163	236384163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:236384163C>T	uc001hxt.3	-	14	1568	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	438					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GCAACTATTTCCTGTCGGGTG	0.363000														27			23		0	0	0.002299	0	0
PRKCA	5578	broad.mit.edu	37	17	64728899	64728899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:64728899G>A	uc002jfo.1	+	9	1117	c.625G>A	c.(625-627)Gac>Aac	p.D209N	PRKCA_uc002jfp.1_Missense_Mutation_p.D338N			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	338	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAAACTCACGGACTTCAATTT	0.473000														108			60		0	0	0.003610	0	0
SYT13	57586	broad.mit.edu	37	11	45274151	45274151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:45274151C>T	uc001myq.2	-	3	793	c.667G>A	c.(667-669)Gag>Aag	p.E223K	SYT13_uc009yku.1_Missense_Mutation_p.E79K	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	223	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						ACCAGGCCCTCCTCCCAGGTG	0.662000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			23		0	0	0.003954	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70428923	70428923	+	Silent	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:70428923G>C	uc002eyw.2	-	1	2603	c.495C>G	c.(493-495)ggC>ggG	p.G165G	ST3GAL2_uc002eyx.2_Silent_p.G165G	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 2 (ST3GAL2), mRNA.	165					amino sugar metabolic process	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCTGCCCATAGCCAGAGCCCC	0.677000														101			28		0	0	0.006320	0	0
LPIN1	23175	broad.mit.edu	37	2	11943103	11943103	+	Missense_Mutation	SNP	C	T	T	rs113391634		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:11943103C>T	uc010yjm.2	+	15	2157	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	LPIN1_uc010yjn.2_Missense_Mutation_p.P617S|LPIN1_uc002rbt.3_Missense_Mutation_p.P617S|LPIN1_uc010yjo.2_Missense_Mutation_p.P118S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	617	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGGCCACCTCCCTCTTCTGCC	0.542000														49			62		0	0	0.003610	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231752	142231752	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142231752G>A	uc003ywd.1	-	1	509	c.201C>T	c.(199-201)cgC>cgT	p.R67R	SLC45A4_uc003ywc.1_Silent_p.R67R|SLC45A4_uc010meq.1_Silent_p.R65R	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	118					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGGCCGCCGGCGGCCCCAGC	0.607000														136			37		0	0	0.002222	0	0
NLRP2	55655	broad.mit.edu	37	19	55494742	55494742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55494742G>A	uc021vbq.1	+	5	1787	c.1676G>A	c.(1675-1677)gGc>gAc	p.G559D	NLRP2_uc010yfp.2_Missense_Mutation_p.G536D|NLRP2_uc002qij.3_Missense_Mutation_p.G559D|NLRP2_uc010esp.3_Missense_Mutation_p.G537D|NLRP2_uc010esn.3_Missense_Mutation_p.G535D|NLRP2_uc010eso.3_Missense_Mutation_p.G556D	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	559					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TACTCCTTTGGCCTCGCTAAC	0.547000														51			28		0	0	0.005443	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182999	140182999	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140182999G>A	uc003lhf.2	+	0	2217	c.2217G>A	c.(2215-2217)ctG>ctA	p.L739L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L739L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	740					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCACGCTGGTGTGCTCCA	0.637000														55			95		0	0	0.003610	0	0
FMO2	2327	broad.mit.edu	37	1	171174595	171174595	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:171174595T>C	uc001ghk.1	+	6	1122	c.1005T>C	c.(1003-1005)ttT>ttC	p.F335F	FMO2_uc010pmd.1_Silent_p.F115F	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	335					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTTCTCTTTTCCCTTCCTTG	0.418000														3			8		0	0	0.004482	0	0
ADCY10	55811	broad.mit.edu	37	1	167825450	167825450	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:167825450C>T	uc001ger.3	-	16	2422	c.2124G>A	c.(2122-2124)aaG>aaA	p.K708K	ADCY10_uc010plj.2_Silent_p.K555K|ADCY10_uc009wvk.3_Silent_p.K616K|ADCY10_uc009wvl.3_Silent_p.K707K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	708					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAAGACAGATCTTGTTGGAGA	0.468000														58			57		0	0	0.003610	0	0
CCL8	6355	broad.mit.edu	37	17	32647341	32647341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:32647341C>T	uc002hib.3	+	1	585	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_005623	NP_005614	P80075	CCL8_HUMAN	Homo sapiens chemokine (C-C motif) ligand 8 (CCL8), mRNA.	44					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TAGGAAAATTCCTATCCAGAG	0.443000														2			5		0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13786369	13786369	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:13786369G>A	uc003jfd.2	-	51	8781	c.8739C>T	c.(8737-8739)ttC>ttT	p.F2913F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2913					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCTGCAGGAACATATTCA	0.453000									Kartagener syndrome					6			3		0	0	0.004672	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546003	112546003	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:112546003G>A	uc003dzi.1	-	3	742	c.516C>T	c.(514-516)tcC>tcT	p.S172S	CD200R1L_uc010hqf.1_Silent_p.S151S|CD200R1L_uc011bhw.1_Silent_p.S151S	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	172	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTGGGATCCAGGAGATCTGGG	0.502000														17			5		0	0	0.001168	0	0
FAM160A2	84067	broad.mit.edu	37	11	6232843	6232843	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6232843A>G	uc001mck.4	-	11	3213	c.2854T>C	c.(2854-2856)Ttg>Ctg	p.L952L	FAM160A2_uc001mcl.4_Silent_p.L938L	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	938					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGCAGCCAACTCCTTGAGA	0.567000														62			98		0	0	0.003610	0	0
DDX54	79039	broad.mit.edu	37	12	113603672	113603672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:113603672G>A	uc001tuq.4	-	12	1608	c.1580C>T	c.(1579-1581)tCg>tTg	p.S527L	DDX54_uc001tup.3_Missense_Mutation_p.S527L	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	527					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGACTCAGGCGAGGGCGCCGG	0.662000														34			11		0	0	0.000978	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481972	140481972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140481972C>T	uc003lio.3	+	0	1739	c.1739C>T	c.(1738-1740)gCt>gTt	p.A580V	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	580	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCGGGCGGCTGAGCCGGGC	0.711000														159			27		0	0	0.004878	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377154	125377154	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:125377154C>T	uc011lyy.2	+	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGGCCATCATCACACTGATTC	0.498000														49			22		0	0	0.002299	0	0
SOX6	55553	broad.mit.edu	37	11	16071320	16071320	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:16071320C>T	uc001mme.3	-	10	1488	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	SOX6_uc001mmd.3_Silent_p.L434L|SOX6_uc001mmf.3_Silent_p.L431L|SOX6_uc001mmg.3_Silent_p.L472L	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	472					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ATCCTCTTCCCAGGCTTCCTC	0.478000														22			9		0	0	0.004482	0	0
C11orf65	160140	broad.mit.edu	37	11	108332209	108332209	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:108332209G>A	uc001pkh.3	-	1	148	c.78C>T	c.(76-78)ttC>ttT	p.F26F	C11orf65_uc010rvx.1_Silent_p.F26F|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	26										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AACTCACAAGGAAACTTTTCC	0.303000														36			38		0	0	0.002522	0	0
POLR3E	55718	broad.mit.edu	37	16	22337387	22337387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:22337387G>A	uc002dkk.3	+	17	1810	c.1654G>A	c.(1654-1656)Ggc>Agc	p.G552S	POLR3E_uc002dkj.1_Missense_Mutation_p.G552S|POLR3E_uc002dkm.3_Missense_Mutation_p.G516S|POLR3E_uc010vbr.2_Missense_Mutation_p.G552S|POLR3E_uc002dkl.3_Missense_Mutation_p.G552S|POLR3E_uc010vbs.2_Missense_Mutation_p.G516S|POLR3E_uc010vbt.2_Missense_Mutation_p.G496S	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	552					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCCGCCCCAGGGCTGCGCCAG	0.662000														13			11		0	0	0.001855	0	0
GSN	2934	broad.mit.edu	37	9	124091552	124091552	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:124091552C>T	uc004blf.1	+	14	2138	c.2077C>T	c.(2077-2079)Ctg>Ttg	p.L693L	GSN_uc004bld.1_Silent_p.L642L|GSN_uc010mvr.1_Silent_p.L653L|GSN_uc010mvq.1_Silent_p.L653L|GSN_uc010mvu.1_Silent_p.L642L|GSN_uc010mvt.1_Silent_p.L642L|GSN_uc010mvs.1_Silent_p.L642L|GSN_uc004ble.1_Silent_p.L642L|GSN_uc010mvv.1_Silent_p.L642L|GSN_uc011lyh.1_Silent_p.L659L|GSN_uc011lyi.1_Silent_p.L642L|GSN_uc011lyj.1_Silent_p.L666L|GSN_uc004blg.1_Silent_p.L424L	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	693	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCAGGAAGACCTGGCAACGGA	0.552000														59			32		0	0	0.006999	0	0
ARSE	415	broad.mit.edu	37	X	2876406	2876406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:2876406C>T	uc011mhh.2	-	3	630	c.169G>A	c.(169-171)Gac>Aac	p.D57N	ARSE_uc011mhi.2_Intron|ARSE_uc004crc.4_Missense_Mutation_p.D32N			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	32					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGAAATGTCGCTGGAAGCT	0.557000														47			14		0	0	0.001855	0	0
PRPS1	5631	broad.mit.edu	37	X	106882636	106882636	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:106882636G>A	uc004ene.4	+	1	439	c.234G>A	c.(232-234)aaG>aaA	p.K78K	PRPS1_uc011msj.2_Intron|PRPS1_uc010npg.3_Silent_p.K78K	NM_002764	NP_002755	P60891	PRPS1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA.	78					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						ATGCCTGCAAGATTGCTTCAG	0.433000														74			94		0	0	0.003610	0	0
STIM1	6786	broad.mit.edu	37	11	4103472	4103472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:4103472C>T	uc021qco.1	+	7	1596	c.1028C>T	c.(1027-1029)gCt>gTt	p.A343V	STIM1_uc001lyv.2_Missense_Mutation_p.A343V|STIM1_uc009yef.2_Missense_Mutation_p.A343V|STIM1_uc009yeg.2_Missense_Mutation_p.A170V	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	343					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TCATGGTATGCTCCAGAGGCC	0.502000														34			18		0	0	0.007413	0	0
NUDT9	53343	broad.mit.edu	37	4	88362986	88362986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:88362986C>T	uc003hqq.3	+	3	779	c.449C>T	c.(448-450)cCt>cTt	p.P150L	NUDT9_uc010ikl.3_Missense_Mutation_p.P118L|NUDT9_uc003hqr.3_Missense_Mutation_p.P100L	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	150						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TCCAGAAATCCTGCAGGACGG	0.423000														9			10		0	0	0.000673	0	0
EPB41L3	23136	broad.mit.edu	37	18	5423519	5423519	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:5423519G>A	uc002kmt.1	-	10	1283	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	EPB41L3_uc010wzh.1_Silent_p.F399F|EPB41L3_uc002kmu.1_Silent_p.F399F|EPB41L3_uc010dkq.1_Silent_p.F290F|EPB41L3_uc010dkr.2_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	399	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCAAGGTTAGGAATTTCTTGG	0.418000														30			7		0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3239130	3239130	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:3239130A>T	uc004crg.4	-	4	4753	c.4596T>A	c.(4594-4596)aaT>aaA	p.N1532K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1532						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCACATAATTCAAGAAAA	0.443000														124			41		0	0	0.002222	0	0
BTRC	8945	broad.mit.edu	37	10	103292777	103292778	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:103292777_103292778CC>TT	uc001kta.3	+	8	1160_1161	c.1047_1048CC>TT	c.(1045-1050)ctccag>ctTTag	p.Q350*	BTRC_uc001ktb.3_Nonsense_Mutation_p.Q314*|BTRC_uc001ktc.3_Nonsense_Mutation_p.Q324*	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	350					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TCCTCTGTCTCCAGTATGATGA	0.406000														53			35		0	0	0.004672	0	0
FLT4	2324	broad.mit.edu	37	5	180043920	180043920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:180043920C>T	uc003mlz.4	-	21	3155	c.3076G>A	c.(3076-3078)Gag>Aag	p.E1026K	FLT4_uc003mma.4_Missense_Mutation_p.E1026K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1026	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCAGGAACTCCATCCCTCTG	0.602000														75			21		0	0	0.004656	0	0
PEBP4	157310	broad.mit.edu	37	8	22582371	22582371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:22582371C>T	uc003xcn.1	-	5	594	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_144962	NP_659399	Q96S96	PEBP4_HUMAN	Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA.	168						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		GTTTTGTTTTCCTTGGGAAGG	0.537000														52			35		0	0	0.003271	0	0
ZC3H13	23091	broad.mit.edu	37	13	46563054	46563054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:46563054G>A	uc010tfw.1	-	7	1129	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	ZC3H13_uc001vas.1_Missense_Mutation_p.P375S|ZC3H13_uc001vat.1_Missense_Mutation_p.P375S	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	375	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GAATGTGAAGGATAAGGAGAG	0.468000														9			15		0	0	0.002450	0	0
KL	9365	broad.mit.edu	37	13	33635235	33635235	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:33635235C>T	uc001uus.3	+	3	2027	c.2019C>T	c.(2017-2019)tgC>tgT	p.C673C	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	673	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCGACTGTGCTTTCAAGAGC	0.577000														33			66		0	0	0.003610	0	0
TCRA	0	broad.mit.edu	37	14	22891799	22891799	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:22891799T>C	uc001wdv.4	+	1	176	c.111T>C	c.(109-111)ccT>ccC	p.P37P	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|AK125397_uc001wdt.1_Intron|TCRA_uc001wdu.2_Silent_p.P37P					SubName: Full=TRA@ protein;																		TAGGGGTCCCTGCCACCCTCA	0.498000														16			14		0	0	0.002450	0	0
NCOA6	23054	broad.mit.edu	37	20	33331095	33331095	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:33331095G>A	uc002xav.3	-	11	5536	c.2965C>T	c.(2965-2967)Caa>Taa	p.Q989*	NCOA6_uc002xaw.3_Nonsense_Mutation_p.Q989*|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Nonsense_Mutation_p.Q989*|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	989	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCATGAGTTGAGGAGGCATC	0.532000														60			39		0	0	0.001951	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422075	1422075	+	Silent	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:1422075C>G	uc003jck.3	-	4	834	c.708G>C	c.(706-708)ccG>ccC	p.P236P		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	236					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCTGCCACCGCGGAGGCCCCA	0.662000														75			21		0	0	0.001882	0	0
C15orf2	23742	broad.mit.edu	37	15	24923350	24923350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:24923350G>A	uc001ywo.3	+	0	2810	c.2336G>A	c.(2335-2337)gGg>gAg	p.G779E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	779					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCCCTGATGGGCCGCAGCAG	0.552000														233			52		0	0	0.003610	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935675	151935675	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:151935675G>A	uc022chl.1	-	0	492	c.492C>T	c.(490-492)atC>atT	p.I164I	MAGEA3_uc004fgp.3_Silent_p.I164I	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	164	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTCGATGCCAAAGA	0.532000														100			58		0	0	0.003610	0	0
TCRA	0	broad.mit.edu	37	14	22466179	22466179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:22466179G>A	uc001wcp.2	+	1	138	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Missense_Mutation_p.E37K|TCRA_uc001wcr.1_5'UTR|TCRA_uc001wcs.1_5'UTR|TCRA_uc010ajf.1_5'UTR|TCRA_uc010tmm.2_Intron|TCRA_uc001wcq.3_Missense_Mutation_p.E37K|TCRA_uc010ajd.1_Missense_Mutation_p.E37K					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		CCAGGAGGGTGAAAATGCCAC	0.453000														12			10		0	0	0.000673	0	0
TET3	200424	broad.mit.edu	37	2	74326589	74326589	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:74326589C>T	uc002skb.4	+	7	3049	c.3049C>T	c.(3049-3051)Ctg>Ttg	p.L1017L		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1017							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTCCGACGCCTGCCCGAGCC	0.627000														13			25		0	0	0.001786	0	0
CACNA1A	773	broad.mit.edu	37	19	13325357	13325357	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:13325357G>A	uc002mwy.3	-	38	6033	c.5797C>T	c.(5797-5799)Ctg>Ttg	p.L1933L	CACNA1A_uc002mwx.3_Silent_p.L639L|CACNA1A_uc010dzc.2_Silent_p.L1459L|CACNA1A_uc010xnd.2_Silent_p.L1936L|CACNA1A_uc021ups.1_Silent_p.L1933L|CACNA1A_uc010xne.2_Silent_p.L1936L|CACNA1A_uc010dze.2_Silent_p.L1933L|CACNA1A_uc021upt.1_Silent_p.L1934L|CACNA1A_uc002mwv.3_Silent_p.L450L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1934					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTCTGGGACAGATTGGGCCAA	0.587000														37			18		0	0	0.002299	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475728	27475728	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:27475728G>A	uc002dov.2	-	33	5825	c.5785C>T	c.(5785-5787)Caa>Taa	p.Q1929*	GTF3C1_uc002dou.3_Nonsense_Mutation_p.Q1929*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1929						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACACCCTCTTGGTCTTCCTGT	0.662000														87			50		0	0	0.003610	0	0
RIT2	6014	broad.mit.edu	37	18	40323652	40323652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:40323652C>T	uc002lav.3	-	4	633	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	RIT2_uc010dnf.3_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	154					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding	p.Q153K(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATTATATTCTTGGGCAAGA	0.358000														8			4		0	0	0.000248	0	0
GABRG3	2567	broad.mit.edu	37	15	27777961	27777961	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:27777961G>A	uc001zbg.2	+	9	1592	c.1338G>A	c.(1336-1338)cgG>cgA	p.R446R		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	446					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R446R(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CGTACTCCCGGGTCTTTTTCC	0.478000														28			27		0	0	0.001512	0	0
NSUN4	387338	broad.mit.edu	37	1	46810632	46810632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:46810632C>T	uc001cpr.1	+	1	362	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	NSUN4_uc010omc.1_Missense_Mutation_p.H36Y|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Missense_Mutation_p.H36Y|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	85							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TGCCTGGGATCATGTAAGTGC	0.512000														7			78		0	0	0.003610	0	0
SPSB4	92369	broad.mit.edu	37	3	140785549	140785549	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:140785549C>T	uc003ett.3	+	1	848	c.603C>T	c.(601-603)ttC>ttT	p.F201F	SPSB4_uc010hum.3_Silent_p.F201F	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	201	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCGTGGCCTTCCGAGGTCTCA	0.607000														40			16		0	0	0.004990	0	0
PTPRB	5787	broad.mit.edu	37	12	70954580	70954580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:70954580C>T	uc001swb.4	-	14	3679	c.3649G>A	c.(3649-3651)Gaa>Aaa	p.E1217K	PTPRB_uc010sto.2_Missense_Mutation_p.E1127K|PTPRB_uc010stp.2_Missense_Mutation_p.E1127K|PTPRB_uc001swc.4_Missense_Mutation_p.E1435K|PTPRB_uc001swa.4_Missense_Mutation_p.E1347K|PTPRB_uc001swd.4_Missense_Mutation_p.E1434K|PTPRB_uc009zrr.2_Missense_Mutation_p.E1314K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1217	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTCCAGTTTTCCTTCTTTGTG	0.498000														11			5		0	0	0.001168	0	0
C17orf70	80233	broad.mit.edu	37	17	79517434	79517434	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79517434G>A	uc002kaq.3	-	2	1159	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Silent_p.T211T	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	362					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCAGAAGGGGTGCTGTGGT	0.697000														42			23		0	0	0.002299	0	0
SSTR1	6751	broad.mit.edu	37	14	38679290	38679290	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:38679290C>T	uc021rsi.1	+	0	696	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SSTR1_uc001wul.1_Silent_p.F232F	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	232					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCATGGGCTTCCTGCTGCCCG	0.627000														89			24		0	0	0.002780	0	0
SAG	6295	broad.mit.edu	37	2	234237186	234237186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234237186C>T	uc002vuh.2	+	7	963	c.575C>T	c.(574-576)cCc>cTc	p.P192L	SAG_uc010zmq.1_Missense_Mutation_p.P58L	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	192					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GGTCCCCAGCCCCGAGCTGAG	0.582000														57			27		0	0	0.004656	0	0
FAM161B	145483	broad.mit.edu	37	14	74411285	74411285	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:74411285G>A	uc001xpd.2	-	2	1066	c.678C>T	c.(676-678)taC>taT	p.Y226Y		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGAGGGGCAGGTAGACATGTG	0.617000														101			21		0	0	0.001882	0	0
TARS	6897	broad.mit.edu	37	5	33455743	33455743	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:33455743C>T	uc003jhy.3	+	5	922	c.627C>T	c.(625-627)atC>atT	p.I209I	TARS_uc010iup.1_Silent_p.I150I|TARS_uc011coc.2_Silent_p.I230I|TARS_uc003jhz.3_Silent_p.I105I|TARS_uc011cod.2_Silent_p.I88I	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	209					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GTAAGAAAATCATTAAAGAAA	0.373000														18			20		0	0	0.001216	0	0
DNAI1	27019	broad.mit.edu	37	9	34497151	34497151	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:34497151C>T	uc003zum.3	+	9	1048	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	285					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTGCTAAGATCATGGAGCGGA	0.413000									Kartagener syndrome					28			22		0	0	0.003954	0	0
RGS9	8787	broad.mit.edu	37	17	63206679	63206679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:63206679G>A	uc002jfe.3	+	16	1566	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	RGS9_uc021ubw.1_Missense_Mutation_p.E452K|RGS9_uc010dem.3_Missense_Mutation_p.E452K|RGS9_uc002jfd.3_Missense_Mutation_p.E452K|RGS9_uc002jfg.3_Missense_Mutation_p.E226K	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	455					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTGGAAGAGGAAGCCAAGGC	0.572000														31			11		0	0	0.000673	0	0
MSLN	10232	broad.mit.edu	37	16	816368	816368	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:816368C>T	uc002cjw.2	+	11	1219	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	MSLN_uc002cju.1_Nonsense_Mutation_p.Q370*|MSLN_uc002cjt.1_Nonsense_Mutation_p.Q370*|MSLN_uc010brd.1_Nonsense_Mutation_p.Q369*|MSLN_uc002cjy.1_Nonsense_Mutation_p.Q35*	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	370					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTCTGTGATCCAGCACCTGGG	0.577000														21			32		0	0	0.002836	0	0
BPI	671	broad.mit.edu	37	20	36962855	36962855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:36962855G>A	uc002xib.2	+	12	1370	c.1308G>A	c.(1306-1308)atG>atA	p.M436I		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	436					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AGGATATCATGAACTACATTG	0.507000														153			56		0	0	0.003610	0	0
MYO9B	4650	broad.mit.edu	37	19	17311626	17311626	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:17311626C>T	uc010eak.3	+	25	4703	c.4551C>T	c.(4549-4551)ttC>ttT	p.F1517F	MYO9B_uc002nfi.3_Silent_p.F1517F|MYO9B_uc002nfj.1_Silent_p.F1517F|MYO9B_uc002nfl.1_Silent_p.F66F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1517	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGACGAGTTCCTGCTCAACA	0.552000														111			33		0	0	0.003271	0	0
DTX3	196403	broad.mit.edu	37	12	58001016	58001016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:58001016C>T	uc001sow.1	+	4	707	c.370C>T	c.(370-372)Cct>Tct	p.P124S	DTX3_uc001sov.1_Missense_Mutation_p.P117S|DTX3_uc001sox.1_Missense_Mutation_p.P117S|DTX3_uc001soy.1_Missense_Mutation_p.P117S|ARHGEF25_uc009zpy.3_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	124	Pro-rich.				Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AGGCCCACCCCCTCTCCGAGC	0.706000														8			12		0	0	0.001855	0	0
CEP128	145508	broad.mit.edu	37	14	81209607	81209607	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:81209607T>G	uc001xux.2	-	17	2789	c.2618A>C	c.(2617-2619)aAa>aCa	p.K873T	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	873						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCACTGAAGTTTAGTCTAAAA	0.338000														7			3		0	0	0.004672	0	0
SELO	83642	broad.mit.edu	37	22	50655665	50655665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:50655665C>T	uc021wry.1	+	8	1935	c.1877C>T	c.(1876-1878)cCt>cTt	p.P626L	SELO_uc010hap.3_Missense_Mutation_p.P437L|SELO_uc003bjy.3_Missense_Mutation_p.P306L	NM_031454		Q9BVL4	SELO_HUMAN	Homo sapiens selenoprotein O (SELO), mRNA.	626													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGAGACCCCTTACCACTGC	0.711000														18			45		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9082792	9082792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9082792G>A	uc002mkp.3	-	0	9227	c.9023C>T	c.(9022-9024)tCt>tTt	p.S3008F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3009	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGCAAGAGAGGTCGATGT	0.498000														34			11		0	0	0.000673	0	0
RNF17	56163	broad.mit.edu	37	13	25444853	25444853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:25444853C>T	uc001upr.3	+	31	4464	c.4423C>T	c.(4423-4425)Cct>Tct	p.P1475S	RNF17_uc010tde.2_Missense_Mutation_p.P1471S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P1414S|RNF17_uc010aac.3_Missense_Mutation_p.P667S|RNF17_uc010aad.3_Missense_Mutation_p.P485S	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1475					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAGGCGCTTCCTCCTCTGAC	0.428000														42			20		0	0	0.001523	0	0
LAMC2	3918	broad.mit.edu	37	1	183212336	183212336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:183212336C>T	uc001gqa.2	+	22	3697	c.3383C>T	c.(3382-3384)tCc>tTc	p.S1128F		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1128	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGAAGCTTTCCCGAGCCAAG	0.517000														30			19		0	0	0.001216	0	0
DHH	50846	broad.mit.edu	37	12	49484963	49484963	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:49484963G>A	uc001rtf.3	-	1	820	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	171					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						AGACCCAGTCGAAGCCGGCTT	0.597000														88			48		0	0	0.003610	0	0
ATG16L2	89849	broad.mit.edu	37	11	72539442	72539442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:72539442G>A	uc001otd.3	+	14	1551	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	ATG16L2_uc001ote.3_Missense_Mutation_p.R398Q|ATG16L2_uc009ytj.2_Silent_p.P119P	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	504					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGCAGGGCCGGGTCACCTCC	0.617000														376			126		0	0	0.003610	0	0
DDX28	55794	broad.mit.edu	37	16	68056962	68056962	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:68056962C>T	uc002evh.2	-	0	809	c.144G>A	c.(142-144)caG>caA	p.Q48Q	DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA.	48						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TGCTCTGCCGCTGTTCCAACT	0.731000														19			5		0	0	0.001168	0	0
OR2T8	343172	broad.mit.edu	37	1	248085243	248085243	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248085243C>T	uc010pzc.2	+	0	924	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V307V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGTGTGGCCTTAAGTCGTG	0.408000														84			19		0	0	0.001216	0	0
RAI2	10742	broad.mit.edu	37	X	17819282	17819282	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:17819282C>T	uc022btm.1	-	0	849	c.849G>A	c.(847-849)ctG>ctA	p.L283L	RAI2_uc004cyf.3_Silent_p.L283L|RAI2_uc004cyg.3_Silent_p.L283L|RAI2_uc011miy.2_Silent_p.L233L|RAI2_uc022btl.1_Silent_p.L283L|RAI2_uc004cyh.4_Silent_p.L283L|RAI2_uc010nfa.3_Silent_p.L283L	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	283					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CATCTTTTTCCAGAGGGGTCT	0.542000														177			71		0	0	0.003610	0	0
MTBP	27085	broad.mit.edu	37	8	121502706	121502706	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:121502706T>A	uc003ypc.1	+	12	1388	c.1343T>A	c.(1342-1344)tTt>tAt	p.F448Y		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	448					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCTCAGGTTTTCCTTTTGAC	0.353000														11			10		0	0	0.000978	0	0
CERKL	375298	broad.mit.edu	37	2	182402939	182402939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:182402939C>T	uc002unx.3	-	13	1750	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.G524E|CERKL_uc010zfm.2_Missense_Mutation_p.G506E|CERKL_uc002unz.3_Missense_Mutation_p.G272E|CERKL_uc002uoa.3_Missense_Mutation_p.G455E|CERKL_uc002uob.3_Missense_Mutation_p.G272E|CERKL_uc002uoc.3_Missense_Mutation_p.G411E|CERKL_uc021vth.1_Missense_Mutation_p.G319E|CERKL_uc021vti.1_Missense_Mutation_p.G272E|CERKL_uc021vtj.1_Missense_Mutation_p.G227E|CERKL_uc021vtk.1_Missense_Mutation_p.G272E|CERKL_uc021vtl.1_Missense_Mutation_p.G227E|CERKL_uc021vtm.1_Missense_Mutation_p.G319E|CERKL_uc002uod.2_Missense_Mutation_p.G319E|CERKL_uc002unw.3_Missense_Mutation_p.G120E	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	550					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCCATGCTTCCTCCATAAAG	0.289000														6			8		0	0	0.000673	0	0
POTEG	404785	broad.mit.edu	37	14	19553770	19553770	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:19553770C>T	uc001vuz.1	+	0	406	c.354C>T	c.(352-354)ggC>ggT	p.G118G	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	118										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAAAGTGGGCCCTTGGGGAG	0.597000														783			34		0	0	0.005524	0	0
ICA1L	130026	broad.mit.edu	37	2	203644281	203644281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:203644281G>A	uc002uzh.1	-	13	1588	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	ICA1L_uc002uzi.1_Missense_Mutation_p.S475L|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	475										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCATCATCTGAGTGTCCAAT	0.408000														442			230		0	0	0.003610	0	0
C7orf62	219557	broad.mit.edu	37	7	88424141	88424141	+	Missense_Mutation	SNP	C	T	T	rs141995683		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:88424141C>T	uc003ujv.3	-	1	298	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.R39Q	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	39										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAGGTGTAGTCGTTGTTTCTC	0.408000														11			9		0	0	0.000673	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022226	34022226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:34022226G>A	uc002xcj.3	+	1	712	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	GDF5_uc010gfc.1_Silent_p.F329F|GDF5_uc002xck.1_Silent_p.F329F					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						CGGCGCGGTCGAAGCCCAGGC	0.627000														47			18		0	0	0.006122	0	0
MYO5C	55930	broad.mit.edu	37	15	52521417	52521417	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:52521417C>T	uc010bff.3	-	24	3282	c.3120G>A	c.(3118-3120)aaG>aaA	p.K1040K	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1040						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGAGTTGCATCTTCTCATCCT	0.478000														52			43		0	0	0.001951	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102472431	102472431	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:102472431C>T	uc001yks.2	+	26	5804	c.5640C>T	c.(5638-5640)gtC>gtT	p.V1880V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1880	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACAAACTGGTCCAGACCCCCC	0.488000														215			59		0	0	0.003610	0	0
UBR5	51366	broad.mit.edu	37	8	103323563	103323563	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:103323563G>A	uc003ykr.2	-	19	3035	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	UBR5_uc003yks.2_Silent_p.I860I	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	860					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTCTTTTTGATTGTTGAAT	0.378000														57			59		0	0	0.003610	0	0
VNN1	8876	broad.mit.edu	37	6	133035073	133035073	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:133035073C>T	uc003qdo.3	-	0	122	c.102G>A	c.(100-102)gcG>gcA	p.A34A		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	34	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGGGCAATATCGCTGCATGCT	0.483000														2			23		0	0	0.002780	0	0
USP19	10869	broad.mit.edu	37	3	49154918	49154918	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49154918G>A	uc003cwd.2	-	4	877	c.558C>T	c.(556-558)caC>caT	p.H186H	USP19_uc003cwa.3_5'UTR|USP19_uc003cwb.3_Silent_p.H171H|USP19_uc003cvz.4_Silent_p.H186H|USP19_uc011bcg.2_Silent_p.H186H|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Silent_p.H186H|USP19_uc011bci.2_Silent_p.H171H	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	186	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGTGTCAGGTGCAGGAGAC	0.552000														28			43		0	0	0.001951	0	0
TXNRD1	7296	broad.mit.edu	37	12	104714883	104714883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:104714883C>T	uc021rcx.1	+	9	1026	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	TXNRD1_uc021rcy.1_Missense_Mutation_p.S237F|TXNRD1_uc021rcz.1_Missense_Mutation_p.S185F|TXNRD1_uc021rda.1_Missense_Mutation_p.S185F|TXNRD1_uc021rdb.1_Missense_Mutation_p.S185F|TXNRD1_uc010swp.2_Missense_Mutation_p.S147F|TXNRD1_uc010swq.2_Missense_Mutation_p.S235F|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.S251F	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	335					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GATCTTTTCTCCTTGCCTTAC	0.388000														200			100		0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100847425	100847425	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:100847425G>A	uc003yiv.3	+	53	9801	c.9690_splice	c.e53-1	p.R3230_splice	VPS13B_uc003yiw.3_Splice_Site_p.R3205_splice	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3230					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTCTTCCAGGGCTATAGTGC	0.383000														28			9		0	0	0.000673	0	0
ZFHX3	463	broad.mit.edu	37	16	72993646	72993646	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:72993646G>A	uc002fck.3	-	1	1072	c.399C>T	c.(397-399)atC>atT	p.I133I	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	133					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGACGATCTCCCCGG	0.711000														36			21		0	0	0.004656	0	0
DNAH1	25981	broad.mit.edu	37	3	52383328	52383328	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52383328C>T	uc011bef.2	+	13	2679	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	DNAH1_uc003ddt.1_Silent_p.F806F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	806	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGGGCCTTTCTACATCAACA	0.587000														53			19		0	0	0.001216	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958625	57958625	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57958625C>T	uc010rka.2	+	0	720	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACCTGTTTATCATTGTGGCCA	0.542000														32			33		0	0	0.003271	0	0
MYH3	4621	broad.mit.edu	37	17	10538190	10538190	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10538190G>A	uc002gmq.2	-	30	4411	c.4323C>T	c.(4321-4323)gcC>gcT	p.A1441A		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1441					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTCCAGAGCGGCGGCCAAGG	0.527000														76			47		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55542561	55542561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55542561C>T	uc003xsd.1	+	3	6267	c.6119C>T	c.(6118-6120)tCa>tTa	p.S2040L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2040					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)			TTGCACACATCATTGTTAGTT	0.328000														46			29		0	0	0.002836	0	0
TLR2	7097	broad.mit.edu	37	4	154624702	154624702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:154624702G>A	uc003inq.3	+	2	862	c.643G>A	c.(643-645)Gag>Aag	p.E215K	TLR2_uc003inr.3_Missense_Mutation_p.E215K|TLR2_uc003ins.3_Missense_Mutation_p.E215K|TLR2_uc021xtl.1_Missense_Mutation_p.E215K	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	215					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTTACTGCTGGAGATTTTTGT	0.373000														9			4		0	0	0.000602	0	0
ATP9A	10079	broad.mit.edu	37	20	50286610	50286610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:50286610G>A	uc002xwg.1	-	12	1219	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ATP9A_uc010gih.1_Missense_Mutation_p.H271Y|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	407					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTCCGAGATGGAGCCGTTTG	0.453000														83			32		0	0	0.006999	0	0
UNC79	57578	broad.mit.edu	37	14	94155165	94155165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94155165C>T	uc001ybv.1	+	42	6799	c.6716C>T	c.(6715-6717)cCc>cTc	p.P2239L	UNC79_uc001ybs.1_Missense_Mutation_p.P2217L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2394						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTTATCATCCCCCCTCTGCA	0.537000														42			8		0	0	0.004482	0	0
ABCA7	10347	broad.mit.edu	37	19	1055316	1055316	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:1055316C>T	uc002lqw.4	+	29	4402	c.4171C>T	c.(4171-4173)Ctg>Ttg	p.L1391L	ABCA7_uc010dsb.1_Silent_p.L1253L|ABCA7_uc002lqy.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1391					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGACTTCCTGGTCAAGAC	0.657000														21			8		0	0	0.000673	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779433	140779433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140779433C>T	uc003lkf.2	+	0	1739	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.P580L	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	585	Cadherin 6.				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)			GCTGCAGAGCCCGGCTACCTG	0.672000														32			10		0	0	0.006214	0	0
HOXB1	3211	broad.mit.edu	37	17	46607987	46607987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:46607987C>T	uc002ink.1	-	0	286	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	HOXB1_uc021tzf.1_Missense_Mutation_p.G94R	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	94						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAGAAGGCCCGTAGCTGGGG	0.662000														77			25		0	0	0.006320	0	0
HEPHL1	341208	broad.mit.edu	37	11	93779019	93779019	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:93779019G>A	uc001pep.2	+	1	508	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	117	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCATTTAAAGAACTTTGCTT	0.453000														15			17		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	8997424	8997424	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:8997424G>A	uc002mkp.3	-	58	41202	c.40998C>T	c.(40996-40998)gtC>gtT	p.V13666V	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.V483V|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13668	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCCTGAAGGACCCTCTCCG	0.547000														20			26		0	0	0.002096	0	0
NRXN3	9369	broad.mit.edu	37	14	80328182	80328182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:80328182G>A	uc001xun.3	+	16	3552	c.3061G>A	c.(3061-3063)Gac>Aac	p.D1021N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.D597N|NRXN3_uc010asw.3_Missense_Mutation_p.D419N|NRXN3_uc001xur.4_Missense_Mutation_p.D392N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	597					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATCAAGTGGACGAGACGCG	0.562000														31			8		0	0	0.006214	0	0
KIF2B	84643	broad.mit.edu	37	17	51900733	51900733	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:51900733G>A	uc002iua.2	+	0	495	c.339G>A	c.(337-339)acG>acA	p.T113T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T113M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTACCGCCACGAAATGGGTTG	0.592000														76			31		0	0	0.007291	0	0
PRDM9	56979	broad.mit.edu	37	5	23522914	23522914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:23522914C>T	uc003jgo.3	+	7	984	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	268	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P268Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATCTGATCTGCCGCTGGGTCT	0.567000										HNSCC(3;0.000094)				7			9		0	0	0.000673	0	0
TTC14	151613	broad.mit.edu	37	3	180327541	180327541	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:180327541C>T	uc003fkk.3	+	11	1656	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Silent_p.N508N	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	508	Ser-rich.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATAAGAGGAACCGTTCAGAGT	0.428000														12			23		0	0	0.001882	0	0
MGRN1	23295	broad.mit.edu	37	16	4731634	4731634	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4731634C>T	uc002cxa.3	+	12	1352	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	MGRN1_uc002cwz.3_Silent_p.I405I|MGRN1_uc010uxo.2_Silent_p.I383I|MGRN1_uc010uxp.2_Silent_p.I383I|MGRN1_uc010btw.3_Silent_p.I384I|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	405					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CCCCGGCCATCCCCTCGGCCC	0.637000														37			25		0	0	0.007291	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84888359	84888359	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84888359C>T	uc010voh.1	+	5	860	c.633C>T	c.(631-633)ccC>ccT	p.P211P	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Silent_p.P211P|CRISPLD2_uc002fin.4_Silent_p.P211P	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	211						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GAGAAGCCCCCTACAAGAATG	0.567000														107			45		0	0	0.003610	0	0
WDR25	79446	broad.mit.edu	37	14	100996347	100996347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:100996347C>T	uc010avx.3	+	6	1697	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	WDR25_uc001yhn.3_Missense_Mutation_p.S535F|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.S278F	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	535										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCCACCTGCTCCTGGGGAGGG	0.617000														67			34		0	0	0.004289	0	0
FGF12	2257	broad.mit.edu	37	3	191888446	191888446	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:191888446C>T	uc003fsx.3	-	4	1241	c.415_splice	c.e4-1	p.D139_splice	FGF12_uc003fsy.3_Splice_Site_p.D77_splice	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	139					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAAAACATCCTGTAGGAAAA	0.358000														24			14		0	0	0.001855	0	0
CAPN11	11131	broad.mit.edu	37	6	44144346	44144346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:44144346G>A	uc003owt.1	+	9	1068	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	CAPN11_uc011dvn.2_5'UTR	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	344	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTGGCCTCAGACATCCAGAT	0.627000														28			44		0	0	0.003610	0	0
NAB2	4665	broad.mit.edu	37	12	57485608	57485608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57485608G>A	uc001smz.3	+	1	1162	c.784G>A	c.(784-786)Ggg>Agg	p.G262R		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	262					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGGGATGCTGGGGAGGTCAC	0.557000														143			63		0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73848639	73848639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:73848639C>T	uc003xzb.3	+	2	1637	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	350					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.F349L(1)		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)			ATGATATTTTCCAGCCTGGTA	0.473000														57			47		0	0	0.003610	0	0
MN1	4330	broad.mit.edu	37	22	28193474	28193474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:28193474C>T	uc003adj.3	-	0	4013	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1020							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCCGGCTGATCCCCCAGGAGC	0.682000			T	ETV6	"""AML, meningioma"""									71			25		0	0	0.004656	0	0
GALNTL6	442117	broad.mit.edu	37	4	173803978	173803978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:173803978C>T	uc003isv.3	+	7	1697	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	321	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D320Y(2)|p.R321Q(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGCTGTGGATCGGAAATGGTT	0.418000														12			7		0	0	0.001984	0	0
TMC5	79838	broad.mit.edu	37	16	19452047	19452047	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:19452047G>A	uc002dgc.4	+	2	1436	c.687G>A	c.(685-687)gaG>gaA	p.E229E	TMC5_uc010vaq.2_Silent_p.E229E|TMC5_uc002dgb.4_Silent_p.E229E|TMC5_uc010var.2_Silent_p.E229E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	229						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGTGCTGAGGACAATCAGA	0.488000														15			17		0	0	0.001216	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594838	31594838	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31594838C>A	uc003nvb.4	+	10	1402	c.1153C>A	c.(1153-1155)Ccg>Acg	p.P385T	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P385T	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	385	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAACAGCGAACCGCCCACTCC	0.622000														29			31		1.06801e-11	2.03369e-11	0.001786	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24524187	24524187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:24524187G>A	uc002wtw.1	+	1	1087	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	152	Poly-Glu.				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CGATGTGGAGGAGGAGGAGGA	0.542000														164			39		0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71887775	71887775	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:71887775T>C	uc010fen.3	+	44	5138	c.4997T>C	c.(4996-4998)tTt>tCt	p.F1666S	DYSF_uc010fei.3_Missense_Mutation_p.F1644S|DYSF_uc010feh.3_Missense_Mutation_p.F1634S|DYSF_uc002sig.4_Missense_Mutation_p.F1613S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.F1658S|DYSF_uc010fee.3_Missense_Mutation_p.F1648S|DYSF_uc010fef.3_Missense_Mutation_p.F1665S|DYSF_uc002sie.3_Missense_Mutation_p.F1627S|DYSF_uc010feo.3_Missense_Mutation_p.F1659S|DYSF_uc010fej.3_Missense_Mutation_p.F1635S|DYSF_uc010fel.3_Missense_Mutation_p.F1614S|DYSF_uc010fem.3_Missense_Mutation_p.F1649S|DYSF_uc002sif.3_Missense_Mutation_p.F1628S|DYSF_uc010fek.3_Missense_Mutation_p.F1645S|DYSF_uc010yqy.2_Missense_Mutation_p.F508S|DYSF_uc010yqz.2_Missense_Mutation_p.F388S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1627						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCCCGTATTTGGAAAGTAA	0.517000														26			10		0	0	0.000673	0	0
C1QC	714	broad.mit.edu	37	1	22974025	22974025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:22974025C>T	uc001bgc.4	+	2	590	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	C1QC_uc001bga.4_Missense_Mutation_p.P163S	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	163	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGCAAAGTCCCCGGCCTCTA	0.592000														1			37		0	0	0.005524	0	0
EEF2K	29904	broad.mit.edu	37	16	22237185	22237185	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:22237185C>T	uc002dki.3	+	1	620	c.135C>T	c.(133-135)gaC>gaT	p.D45D	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	45					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCACGGATGACCCAAGCTCGA	0.537000														19			11		0	0	0.000978	0	0
PLSCR2	57047	broad.mit.edu	37	3	146167090	146167090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:146167090C>T	uc021xfa.1	-	7	1207	c.767G>A	c.(766-768)aGa>aAa	p.R256K	PLSCR2_uc003evw.2_Missense_Mutation_p.R252K|PLSCR2_uc003evv.2_Missense_Mutation_p.R183K	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	183					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AAATGCCTCTCTTAAAAACCC	0.353000														36			12		0	0	0.002450	0	0
GJA8	2703	broad.mit.edu	37	1	147381176	147381176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:147381176C>T	uc021ovm.1	+	0	1094	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	GJA8_uc001epu.2_Missense_Mutation_p.A365V	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	365					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.A365A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGAAGGTGGCCGTGCCAGAG	0.627000														12			9		0	0	0.004482	0	0
RIMS2	9699	broad.mit.edu	37	8	105263835	105263835	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:105263835C>T	uc003yls.3	+	27	4132	c.3891C>T	c.(3889-3891)atC>atT	p.I1297I	RIMS2_uc003ylp.3_Silent_p.I1279I|RIMS2_uc003ylq.3_Silent_p.I1093I|RIMS2_uc003ylr.3_Silent_p.I1118I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1341	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACAGATCATCGTCTGGGGAG	0.358000										HNSCC(12;0.0054)				26			28		0	0	0.002836	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067597	116067598	+	Silent	DNP	GT	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:116067597_116067598GT>AA	uc001lbn.3	-	9	1339_1340	c.1038_1039AC>TT	c.(1036-1041)tcactg>tcTTtg	p.346_347SL>SL	AFAP1L2_uc001lbo.3_Silent_p.346_347SL>SL|AFAP1L2_uc010qse.2_Silent_p.399_400SL>SL|AFAP1L2_uc001lbp.3_Silent_p.374_375SL>SL|AFAP1L2_uc001lbr.1_Silent_p.346_347SL>SL|AFAP1L2_uc010qsd.2_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	346					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		ACAGGCTCCAGTGAGGTGGATT	0.510000														5			67		0	0	0.004672	0	0
LOC100131320	100131320	broad.mit.edu	37	2	130725803	130725803	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:130725803G>A	uc002tpw.1	-	5		c.822C>T								Homo sapiens uncharacterized LOC100131320 (LOC100131320), non-coding RNA.																		GATGAATGTAGAAGTGTAGAG	0.448000														4			4		0	0	0.000248	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449792	85449792	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:85449792C>A	uc001tac.3	+	7	1332	c.1221C>A	c.(1219-1221)aaC>aaA	p.N407K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.N285K|LRRIQ1_uc001taa.1_Missense_Mutation_p.N382K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	407										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATATAATAACAAACATTTAA	0.318000														75			110		8.62921e-31	1.65628e-30	0.003610	1	0
FAM135B	51059	broad.mit.edu	37	8	139165249	139165249	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:139165249T>G	uc003yuy.3	-	12	1640	c.1469A>C	c.(1468-1470)aAt>aCt	p.N490T	FAM135B_uc003yux.3_Missense_Mutation_p.N391T|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.N52T|FAM135B_uc003yvb.3_Missense_Mutation_p.N52T	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	490								p.Q489H(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCATATGATTTTGTGTGGC	0.418000										HNSCC(54;0.14)				84			24		0	0	0.002780	0	0
CD86	942	broad.mit.edu	37	3	121810455	121810455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:121810455G>A	uc003eet.3	+	1	150	c.22G>A	c.(22-24)Gga>Aga	p.G8R	CD86_uc011bjo.2_Intron|CD86_uc011bjp.2_Missense_Mutation_p.G8R|CD86_uc003eeu.3_Missense_Mutation_p.G2R|CD86_uc021xcz.1_Missense_Mutation_p.G2R	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	8					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TAGCACTATGGGACTGAGTAA	0.423000														48			15		0	0	0.003163	0	0
CANX	821	broad.mit.edu	37	5	179143198	179143198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:179143198C>T	uc011dgp.2	+	7	994	c.919C>T	c.(919-921)Cct>Tct	p.P307S	CANX_uc010jlb.1_Missense_Mutation_p.P208S|CANX_uc003mkk.3_Missense_Mutation_p.P272S|CANX_uc003mkl.3_Missense_Mutation_p.P272S|CANX_uc011dgq.2_Missense_Mutation_p.P164S	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	272	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGTAAATCCTTCACGTGA	0.443000														38			24		0	0	0.004656	0	0
CLVS1	157807	broad.mit.edu	37	8	62212400	62212400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:62212400C>T	uc003xuh.3	+	1	338	c.14C>T	c.(13-15)tCt>tTt	p.S5F	CLVS1_uc003xug.2_Missense_Mutation_p.S5F|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	5					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGACCAGTCTCTCTTCTTCCA	0.463000														17			6		0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	216062114	216062114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:216062114C>T	uc001hku.1	-	40	8264	c.7877G>A	c.(7876-7878)gGg>gAg	p.G2626E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2626	Fibronectin type-III 13.				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)		ACTTGGGATCCCTTCCGGTGC	0.493000										HNSCC(13;0.011)				8			10		0	0	0.006214	0	0
PLXNB3	5365	broad.mit.edu	37	X	153037321	153037321	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153037321C>T	uc010nuk.2	+	15	2860	c.2589C>T	c.(2587-2589)gtC>gtT	p.V863V	PLXNB3_uc011mzb.1_Missense_Mutation_p.S208L|PLXNB3_uc011mzc.2_Silent_p.V522V|PLXNB3_uc004fii.2_Silent_p.V840V|PLXNB3_uc011mzd.1_Silent_p.V479V|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	840	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGCAGGTCGAGCCCCTGA	0.701000														17			7		0	0	0.001984	0	0
TH	7054	broad.mit.edu	37	11	2186914	2186914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:2186914G>A	uc001lvq.3	-	11	1296	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	TH_uc001lvp.3_Missense_Mutation_p.S422F|TH_uc001lvr.3_Missense_Mutation_p.S395F|TH_uc010qxj.2_Missense_Mutation_p.S399F|TH_uc001lvs.3_Missense_Mutation_p.S301F|TH_uc001lvt.3_Missense_Mutation_p.S305F|TH_uc009ydh.1_Non-coding_Transcript	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	426					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCCCGTAGGAGGACAGCAG	0.672000														33			5		0	0	0.001168	0	0
AGK	55750	broad.mit.edu	37	7	141255285	141255285	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141255285A>C	uc003vwi.2	+	1	190	c.19A>C	c.(19-21)Acg>Ccg	p.T7P	AGK_uc011krg.1_Non-coding_Transcript|AGK_uc003vwh.2_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	7					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GTTCTTTAAAACGCTTCGAAA	0.433000														77			57		0	0	0.003610	0	0
AGPAT4	56895	broad.mit.edu	37	6	161653068	161653068	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:161653068G>A	uc003qtr.1	-	2	405	c.178_splice	c.e2+1	p.Q60_splice	AGPAT4_uc003qts.1_Splice_Site|AGPAT4_uc011egb.1_Splice_Site_p.L60_splice|AGPAT4_uc003qtt.1_Splice_Site|AGPAT4_uc011egc.1_Splice_Site_p.Q60_splice|AGPAT4_uc011egd.1_Intron|AGPAT4_uc011ege.1_Splice_Site_p.R60_splice	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	60					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AGTATCTTACGGCTTGAGATG	0.433000														30			24		0	0	0.006320	0	0
CPS1	1373	broad.mit.edu	37	2	211438116	211438116	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:211438116A>T	uc010fur.3	+	2	321	c.239A>T	c.(238-240)aAt>aTt	p.N80I	CPS1_uc002vee.4_Missense_Mutation_p.N74I	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.Y80Y(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTGGTTTTTAATACTGGCCTG	0.433000														30			22		0	0	0.002780	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625526	111625526	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:111625526G>A	uc004bdj.1	+	0	924	c.924G>A	c.(922-924)gaG>gaA	p.E308E		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	308						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATGGGAAGGAGATTCAGCTGT	0.542000														63			23		0	0	0.002780	0	0
CTDSP2	10106	broad.mit.edu	37	12	58223308	58223308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:58223308G>A	uc001sqm.3	-	1	665	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	CTDSP2_uc009zqf.3_5'UTR|CTDSP2_uc009zqg.3_Intron	NM_005730	NP_005721	O14595	CTDS2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 (CTDSP2), mRNA.	46					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TGCTGGGCGCGAAAACAGCAG	0.527000														39			76		0	0	0.003610	0	0
IRS4	8471	broad.mit.edu	37	X	107979468	107979468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:107979468G>A	uc004eoc.2	-	0	140	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	36						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						GGTTCCCGAGGAAAGAAGCGG	0.637000														67			22		0	0	0.002780	0	0
CES4A	283848	broad.mit.edu	37	16	67038014	67038014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:67038014G>A	uc002eqv.3	+	8	1151	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	CES4A_uc010vix.2_Missense_Mutation_p.D323N|CES4A_uc002eqw.3_Missense_Mutation_p.D323N|CES4A_uc010viy.2_Missense_Mutation_p.D229N|CES4A_uc002eqx.3_Missense_Mutation_p.D129N|CES4A_uc002eqy.3_Missense_Mutation_p.D225N	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	323						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCCTGTGGTGGATGGTGTGGT	0.542000														100			47		0	0	0.003610	0	0
ADAM8	101	broad.mit.edu	37	10	135085327	135085327	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:135085327G>A	uc021qbe.1	-	10	1175	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	ADAM8_uc009ybi.3_Silent_p.I363I|ADAM8_uc010qva.2_Silent_p.I324I|ADAM8_uc010qvb.1_3'UTR	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	324					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGCCCGCCATGATGCAGCGGC	0.672000														17			11		0	0	0.001368	0	0
RFX2	5990	broad.mit.edu	37	19	6001899	6001899	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:6001899G>A	uc002meb.3	-	14	2055	c.1786C>T	c.(1786-1788)Ctg>Ttg	p.L596L	RFX2_uc002mec.3_Silent_p.L571L	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCTGCTTCAGGACCTGGGTG	0.617000														92			39		0	0	0.001951	0	0
PITPNM2	57605	broad.mit.edu	37	12	123471897	123471897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:123471897G>A	uc001uej.1	-	21	3543	c.3344C>T	c.(3343-3345)tCc>tTc	p.S1115F	PITPNM2_uc001uek.1_Missense_Mutation_p.S1109F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	1115					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCGGCAAAGGAACCGTCGAT	0.662000														45			19		0	0	0.006122	0	0
RP1L1	94137	broad.mit.edu	37	8	10469454	10469454	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:10469454G>A	uc003wtc.3	-	3	2383	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	718					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGGTCTCAGGTTCCCAGAGG	0.607000														47			29		0	0	0.006320	0	0
AMOT	154796	broad.mit.edu	37	X	112021851	112021851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:112021851G>A	uc004epr.3	-	10	3217	c.3199C>T	c.(3199-3201)Ccc>Tcc	p.P1067S	AMOT_uc004eps.3_Missense_Mutation_p.P658S	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	1067					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATCTGAATGGGAGTTTTTCTT	0.403000														327			135		0	0	0.003610	0	0
ZNF107	51427	broad.mit.edu	37	7	64167814	64167814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:64167814C>T	uc003ttd.3	+	6	1918	c.1132C>T	c.(1132-1134)Cat>Tat	p.H378Y	ZNF107_uc003tte.3_Missense_Mutation_p.H378Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAAAATTCATACTGCAGA	0.328000														41			13		0	0	0.002450	0	0
RFPL2	10739	broad.mit.edu	37	22	32586859	32586859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:32586859G>A	uc003amg.3	-	4	1973	c.1037C>T	c.(1036-1038)cCt>cTt	p.P346L	RFPL2_uc003ame.3_Missense_Mutation_p.P285L|RFPL2_uc003amf.3_Missense_Mutation_p.P256L|RFPL2_uc003amh.3_Missense_Mutation_p.P256L	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	346	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGGAACTGAAGGAGCCAAAAA	0.488000														124			42		0	0	0.002522	0	0
PI4KA	5297	broad.mit.edu	37	22	21065061	21065061	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21065061G>A	uc002zsz.4	-	51	6096	c.5835C>T	c.(5833-5835)atC>atT	p.I1945I	PI4KA_uc002zsy.4_Silent_p.I755I	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1945	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGCCCCCCATGATCATCACCA	0.582000														94			38		0	0	0.003610	0	0
GK2	2712	broad.mit.edu	37	4	80328291	80328291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:80328291G>A	uc003hlu.3	-	0	1082	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	355					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.S355F(2)|p.S355S(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACAGCCATAAGAAGTTCCTAC	0.438000														34			37		0	0	0.003755	0	0
CUL9	23113	broad.mit.edu	37	6	43168531	43168531	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:43168531C>T	uc003ouk.3	+	15	3681	c.3606C>T	c.(3604-3606)tcC>tcT	p.S1202S	CUL9_uc003oul.3_Silent_p.S1202S|CUL9_uc010jyk.3_Silent_p.S354S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1202	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACCGGCTCCCACTACATCA	0.577000														44			24		0	0	0.005443	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654354	61654354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:61654354G>A	uc002ljv.3	+	6	1136	c.967G>A	c.(967-969)Gag>Aag	p.E323K	SERPINB8_uc002lju.3_Missense_Mutation_p.E323K|SERPINB8_uc010xex.2_Missense_Mutation_p.E141K	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	323					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGAGGTCAATGAGGAAGGCAC	0.522000														27			11		0	0	0.000978	0	0
SCN1A	6323	broad.mit.edu	37	2	166848852	166848852	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:166848852G>C	uc002udo.4	-	27	5160	c.4933C>G	c.(4933-4935)Cga>Gga	p.R1645G	SCN1A_uc010fpk.3_Missense_Mutation_p.R1617G|SCN1A_uc021vsb.1_Missense_Mutation_p.R1634G	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1645			R -> Q (in SMEI; dbSNP:rs121917976).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1644R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTAGGATTCGGCCAATCCTA	0.473000														11			6		0	0	0.001168	0	0
MED12L	116931	broad.mit.edu	37	3	151095902	151095902	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151095902G>A	uc003eyp.3	+	28	4443	c.4314G>A	c.(4312-4314)gaG>gaA	p.E1438E	MED12L_uc011bnz.2_Silent_p.E1298E|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.E601E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1438					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGAGCTGGAGAAGGGACAGC	0.537000														8			4		0	0	0.000248	0	0
LAMB4	22798	broad.mit.edu	37	7	107704318	107704318	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:107704318G>A	uc010ljo.1	-	21	3033	c.2949C>T	c.(2947-2949)tcC>tcT	p.S983S	LAMB4_uc003vey.2_Silent_p.S983S|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	983	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCCGGCTGCAGGACTCTGGAT	0.507000														64			18		0	0	0.006122	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814325	75814325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:75814325C>T	uc010ths.2	-	0	193	c.152G>A	c.(151-153)gGa>gAa	p.G51E						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		AACAAAAAATCCAACAACAGC	0.443000														58			21		0	0	0.001882	0	0
BCAT1	586	broad.mit.edu	37	12	25034321	25034321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:25034321G>A	uc001rgd.4	-	3	831	c.304C>T	c.(304-306)Cga>Tga	p.R102*	BCAT1_uc001rgc.3_Nonsense_Mutation_p.R101*|BCAT1_uc010six.2_Nonsense_Mutation_p.R114*|BCAT1_uc010siy.2_Intron|BCAT1_uc001rge.4_Intron	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	102					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCTACTCCTCGAAATGCCTTC	0.403000														24			6		0	0	0.001168	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696594	150696594	+	Silent	SNP	G	A	A	rs139985763	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:150696594G>A	uc003lty.3	-	9	1366	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.S214S	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	412					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	p.G411S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCACTCACGGAGCCCACCA	0.637000														7			10		0	0	0.000978	0	0
COL3A1	1281	broad.mit.edu	37	2	189849503	189849503	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:189849503T>A	uc002uqj.1	+	1	214	c.97T>A	c.(97-99)Tcc>Acc	p.S33T		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	33	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAGGATGTTCCCATCTTGG	0.418000														40			17		0	0	0.006122	0	0
KCND2	3751	broad.mit.edu	37	7	119915195	119915195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:119915195G>A	uc003vjj.1	+	0	1474	c.509G>A	c.(508-510)aGg>aAg	p.R170K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	170					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.Q169H(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAAGGCAGAGGGTCTGGAGG	0.612000														61			12		0	0	0.001855	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123732	12123732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:12123732C>T	uc003nac.3	+	3	3883	c.3704C>T	c.(3703-3705)cCa>cTa	p.P1235L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1235					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCCAAGTTCCAGAGATTTTG	0.488000														20			5		0	0	0.001168	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399010	22399010	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:22399010T>C	uc001mqk.3	+	11	1886	c.1473T>C	c.(1471-1473)gtT>gtC	p.V491V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	491					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G490*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATGGTGGAGTTATATTTTATG	0.458000														30			11		0	0	0.000673	0	0
HTT	3064	broad.mit.edu	37	4	3235075	3235075	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:3235075C>T	uc021xkv.1	+	60	8596	c.8451C>T	c.(8449-8451)atC>atT	p.I2817I		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2817					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGAAAGGGATCGCCCAGTGAG	0.622000														53			44		0	0	0.002522	0	0
SNTG1	54212	broad.mit.edu	37	8	51415351	51415352	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:51415351_51415352GG>AA	uc010lxy.1	+	9	748_749	c.377_378GG>AA	c.(376-378)cgg>cAA	p.R126Q	SNTG1_uc003xqs.1_Missense_Mutation_p.R126Q|SNTG1_uc010lxz.1_Missense_Mutation_p.R126Q|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	126	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.R126W(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGGTTCTTCGGAATGCTGGAG	0.332000														17			15		0	0	0.004672	0	0
KRT36	8689	broad.mit.edu	37	17	39645937	39645937	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39645937C>T	uc002hwt.3	-	0	180	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	60	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCAAGCAGCTCCCAAGGCCAG	0.642000														65			15		0	0	0.003163	0	0
FRG2B	441581	broad.mit.edu	37	10	135440242	135440242	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:135440242C>A	uc010qvg.2	-	0	58	c.5G>T	c.(4-6)gGa>gTa	p.G2V		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	2						nucleus		p.M1I(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATTTCCCTTTCCCATGTTGAA	0.532000														226			28		7.11191e-15	1.35766e-14	0.002836	1	0
TCTE1	202500	broad.mit.edu	37	6	44253779	44253779	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:44253779G>A	uc003oxi.2	-	2	924	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	256										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATTCCACTCGAAATTCATGC	0.582000														37			65		0	0	0.003610	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774729	100774729	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:100774729C>T	uc010svi.2	+	1	665	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	SLC17A8_uc009ztx.3_Nonsense_Mutation_p.Q118*	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	118					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACCGGAAATTCAGGTTGGTAT	0.478000														81			23		0	0	0.003954	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29771646	29771646	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:29771646G>A	uc003tai.3	+	8		c.722G>A								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		TCCACATTACGAAGATGCAGA	0.428000														39			11		0	0	0.002450	0	0
TEX13B	56156	broad.mit.edu	37	X	107224621	107224621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:107224621G>A	uc004enn.1	-	2	721	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	210								p.P210P(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						ACCTCTGCGGGGGCAGGCCCT	0.607000														150			60		0	0	0.003610	0	0
JHDM1D	80853	broad.mit.edu	37	7	139793864	139793864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:139793864G>A	uc003vvm.3	-	17	2453	c.2449C>T	c.(2449-2451)Cat>Tat	p.H817Y	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	817					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACCTGAGGATGAAATCTGGAA	0.313000														154			34		0	0	0.003755	0	0
OR4C3	256144	broad.mit.edu	37	11	48346606	48346606	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:48346606C>T	uc010rhv.2	+	0	114	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGAATTTTTCATGCTGGGGC	0.418000														15			10		0	0	0.006214	0	0
MUC5B	727897	broad.mit.edu	37	11	1272698	1272698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1272698C>T	uc001lta.3	+	30	14647	c.14588C>T	c.(14587-14589)tCc>tTc	p.S4863F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4863	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACCGGTTCCACGGCCACC	0.652000														41			10		0	0	0.000673	0	0
DFNB31	25861	broad.mit.edu	37	9	117168671	117168671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:117168671C>T	uc004biy.4	-	8	1691	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	DFNB31_uc004bix.3_Missense_Mutation_p.D383N|DFNB31_uc004biz.4_Missense_Mutation_p.D734N|DFNB31_uc004bja.4_Missense_Mutation_p.D734N	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	734	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCATTGACGTCTGGCTCGCTG	0.632000														109			36		0	0	0.001951	0	0
MUC16	94025	broad.mit.edu	37	19	9020067	9020067	+	Silent	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9020067C>A	uc002mkp.3	-	20	37632	c.37428G>T	c.(37426-37428)ctG>ctT	p.L12476L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12478	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCCAGTACAGCCGCTCTC	0.557000														64			53		3.4597e-24	6.63329e-24	0.003610	1	0
OR6K3	391114	broad.mit.edu	37	1	158687360	158687360	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158687360G>A	uc021pbn.1	-	0	546	c.546C>T	c.(544-546)gtC>gtT	p.V182V		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTAGCACAGGGACCAAGTCAC	0.483000														13			10		0	0	0.000673	0	0
C2orf71	388939	broad.mit.edu	37	2	29293904	29293904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:29293904G>A	uc002rmt.2	-	0	3224	c.3224C>T	c.(3223-3225)aCc>aTc	p.T1075I		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1075	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGGTGCTGGGTTGGGGGGCT	0.622000														48			75		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152276532	152276532	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152276532C>T	uc001ezu.1	-	2	10866	c.10830G>A	c.(10828-10830)caG>caA	p.Q3610Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3610	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)			ATGATGCAGCCTGTCCACCAG	0.567000									Ichthyosis					191			47		0	0	0.003610	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432834	140432834	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140432834G>A	uc003lik.1	+	0	1856	c.1779G>A	c.(1777-1779)gtG>gtA	p.V593V		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	593	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCTGTGGATGGTGACT	0.478000														33			21		0	0	0.001216	0	0
CCDC37	348807	broad.mit.edu	37	3	126137599	126137599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:126137599C>T	uc010hsg.1	+	5	694	c.635C>T	c.(634-636)tCc>tTc	p.S212F	CCDC37_uc003eiu.1_Missense_Mutation_p.S211F	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	211										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GACTGCAGCTCCGTGCAGGCC	0.652000														14			7		0	0	0.000673	0	0
RFPL1	5988	broad.mit.edu	37	22	29834864	29834864	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:29834864G>A	uc003afn.3	+	0	293	c.84G>A	c.(82-84)gtG>gtA	p.V28V	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	28							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCCTGGCAGTGGACATGGCTG	0.483000														33			23		0	0	0.003330	0	0
PEG3	5178	broad.mit.edu	37	19	57327691	57327691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57327691G>A	uc002qnu.2	-	6	2470	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H678Y|PEG3_uc002qnv.2_Missense_Mutation_p.H707Y|PEG3_uc002qnw.2_Missense_Mutation_p.H583Y|PEG3_uc002qnx.2_Missense_Mutation_p.H581Y|PEG3_uc010etr.2_Missense_Mutation_p.H707Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	707					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCGAGAATGAATTTTCTGA	0.433000														11			9		0	0	0.004482	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923946	13923946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:13923946C>T	uc002mxh.1	+	5	1337	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	ZSWIM4_uc010xng.1_Missense_Mutation_p.P189L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	383							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TTCGACGGCCCCAGCCTGCAG	0.612000														37			4		0	0	0.000602	0	0
SCN7A	6332	broad.mit.edu	37	2	167328849	167328849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:167328849C>T	uc002udu.2	-	4	680	c.550G>A	c.(550-552)Gat>Aat	p.D184N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	184					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACGCTGAAATCGAGCCAGTTC	0.353000														6			7		0	0	0.003080	0	0
NSMCE2	286053	broad.mit.edu	37	8	126114576	126114576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:126114576C>T	uc003yrw.2	+	2	232	c.4C>T	c.(4-6)Cca>Tca	p.P2S		NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2), mRNA.	2					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TTTCAAGATGCCAGGACGTTC	0.373000														202			175		0	0	0.003610	0	0
PAPD7	11044	broad.mit.edu	37	5	6752992	6752992	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:6752992T>C	uc003jdx.1	+	11	1405	c.1276T>C	c.(1276-1278)Ttt>Ctt	p.F426L	PAPD7_uc011cmn.2_Missense_Mutation_p.F426L|PAPD7_uc010itl.1_Missense_Mutation_p.F246L	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	426					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTAGACCAGGTTTACTATACC	0.512000														65			31		0	0	0.003271	0	0
PHF20	51230	broad.mit.edu	37	20	34501993	34501993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:34501993G>A	uc002xek.1	+	11	1810	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CACCTCCCAGGAACCTTCTCC	0.522000														43			16		0	0	0.004990	0	0
NDST4	64579	broad.mit.edu	37	4	115754765	115754765	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:115754765A>G	uc003ibu.3	-	11	3072	c.2393T>C	c.(2392-2394)cTa>cCa	p.L798P	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	798	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.A797A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACTCACGTTAGTGCTTCAGA	0.373000														27			16		0	0	0.004990	0	0
RIMS2	9699	broad.mit.edu	37	8	105001563	105001563	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:105001563C>T	uc003yls.3	+	14	2533	c.2292C>T	c.(2290-2292)acC>acT	p.T764T	RIMS2_uc003ylp.3_Silent_p.T986T|RIMS2_uc003ylw.2_Silent_p.T778T|RIMS2_uc003ylq.3_Silent_p.T778T|RIMS2_uc003ylr.3_Silent_p.T825T	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1048					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.P764L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCGAGGGACCCGCACTATGA	0.378000										HNSCC(12;0.0054)				80			21		0	0	0.002299	0	0
COL4A3	1285	broad.mit.edu	37	2	228102734	228102734	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228102734G>A	uc002vom.2	+	1	300	c.138G>A	c.(136-138)ggG>ggA	p.G46G	BC035052_uc002voq.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	46	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGCCAAAGGGGAGAAGGTAA	0.423000														49			24		0	0	0.003954	0	0
KRT73	319101	broad.mit.edu	37	12	53002031	53002032	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53002031_53002032GG>AA	uc001sas.3	-	8	1606_1607	c.1571_1572CC>TT	c.(1570-1572)tcc>tTT	p.S524F		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	524	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTTCCCTGGGAGTCCCTGAA	0.559000														91			32		0	0	0.004672	0	0
OR52E2	119678	broad.mit.edu	37	11	5080804	5080804	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5080804C>T	uc010qyw.2	-	0	54	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTCCTGGGATCCCCAGCAACA	0.473000														5			3		0	0	0.004672	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145477815	145477815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:145477815G>A	uc003lnv.3	-	1	232	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	PLAC8L1_uc021yfd.1_Non-coding_Transcript|PLAC8L1_uc011dbp.2_Non-coding_Transcript	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	Homo sapiens PLAC8-like 1 (PLAC8L1), mRNA.	54										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCTCCCCGAACAGGCTGC	0.512000														31			27		0	0	0.001786	0	0
ASTN1	460	broad.mit.edu	37	1	177133586	177133586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:177133586C>T	uc001glc.3	-	0	439	c.227G>A	c.(226-228)gGa>gAa	p.G76E	ASTN1_uc001glb.1_Missense_Mutation_p.G76E|ASTN1_uc001gld.1_Missense_Mutation_p.G76E|ASTN1_uc009wwx.1_Missense_Mutation_p.G76E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	76					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACCATTTCTCCCGGGAAGTC	0.672000														33			12		0	0	0.001368	0	0
PGM5	5239	broad.mit.edu	37	9	71094357	71094357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:71094357G>A	uc004agr.3	+	7	1412	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	395					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCGAGAGAAGGATGGCCTGTG	0.493000														121			46		0	0	0.003610	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032468	43032468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:43032468C>T	uc003gwt.3	+	3	785	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	262					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.R262*(2)|p.R262L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCATGTTTCGAAACTGCTT	0.473000														28			17		0	0	0.006122	0	0
GP6	51206	broad.mit.edu	37	19	55543684	55543684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55543684C>T	uc002qik.3	-	2	176	c.148G>A	c.(148-150)Gga>Aga	p.G50R	GP6_uc002qil.3_Missense_Mutation_p.G50R|GP6_uc010esq.3_Missense_Mutation_p.G50R|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	50	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCCGGAGGTCCCTGGCACCGG	0.657000														32			13		0	0	0.001855	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580475	15580475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15580475C>T	uc002nbg.3	-	3	1742	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	PGLYRP2_uc002nbf.4_Missense_Mutation_p.D537N	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	537					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGCAGCAGGTCGAAGAGCGCG	0.726000														10			9		0	0	0.000978	0	0
PON1	5444	broad.mit.edu	37	7	94944730	94944730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:94944730C>T	uc003uns.3	-	3	371	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PON1_uc011kih.2_Missense_Mutation_p.E92K	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	92					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGATCTTCTTCATTCAGGTCC	0.383000														34			26		0	0	0.004656	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655330	38655330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38655330C>T	uc002ohk.3	+	14	4501	c.3992C>T	c.(3991-3993)cCc>cTc	p.P1331L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1331					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.P1331S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTCCACGGCCCGCCAAGCCA	0.677000														23			5		0	0	0.001168	0	0
RBBP8	5932	broad.mit.edu	37	18	20572875	20572875	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:20572875T>A	uc002kua.3	+	10	1208	c.1085T>A	c.(1084-1086)cTc>cAc	p.L362H	RBBP8_uc002ktw.3_Missense_Mutation_p.L362H|RBBP8_uc002kty.3_Missense_Mutation_p.L362H|RBBP8_uc002ktz.3_Missense_Mutation_p.L362H|RBBP8_uc002ktx.1_Missense_Mutation_p.L362H	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	362					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTGAAAACACTCCCTTTTAGC	0.363000								Homologous recombination						55			38		0	0	0.005524	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353840	45353840	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:45353840C>T	uc002xsl.3	+	1	262	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCAGCCTGCTCCTGGGGGCTC	0.592000														99			20		0	0	0.001882	0	0
abParts	0	broad.mit.edu	37	14	106347279	106347279	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106347279G>A	uc021ser.1	-	3974		c.59190C>T								Parts of antibodies, mostly variable regions.																		GCCCTGGAGGGGAGACATCTG	0.607000														16			10		0	0	0.006214	0	0
SERPINE3	647174	broad.mit.edu	37	13	51935965	51935965	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:51935965G>A	uc001vfh.2	+	6	1167	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	SERPINE3_uc010tgp.2_Silent_p.R369R|INTS6_uc001vfi.3_3'UTR|INTS6_uc001vfj.3_3'UTR|INTS6_uc001vfk.3_3'UTR|INTS6_uc001vfl.3_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	369		Reactive bond (Potential).			regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TATTGAAAAGGTCTCGGATTC	0.318000														8			4		0	0	0.000248	0	0
CYP3A7	1551	broad.mit.edu	37	7	99313380	99313380	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:99313380C>T	uc003uru.3	-	7	773	c.670_splice	c.e7+1	p.K224_splice	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	224					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGTCCACATACTTATTGAGAG	0.358000														13			5		0	0	0.001168	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144873949	144873949	+	Missense_Mutation	SNP	C	T	T	rs139225578	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:144873949C>T	uc021ouh.1	-	30	5310	c.5008G>A	c.(5008-5010)Gaa>Aaa	p.E1670K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E1670K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E1626K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E677K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1670					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.A1669D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGTTGGATTCGGCCTTAGCC	0.498000			T	PDGFRB	MPD									122			56		0	0	0.003610	0	0
CCDC120	90060	broad.mit.edu	37	X	48920024	48920024	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48920024C>T	uc011mmr.2	+	3	367	c.75C>T	c.(73-75)ccC>ccT	p.P25P	CCDC120_uc010nik.3_Silent_p.P25P|CCDC120_uc011mmq.2_Silent_p.P13P|CCDC120_uc004dmf.3_Silent_p.P25P|CCDC120_uc010nil.3_Silent_p.P25P|CCDC120_uc011mms.2_Silent_p.P13P|CCDC120_uc004dmg.1_Missense_Mutation_p.P104S	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	25							protein binding	p.A24S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGGCTGCCCCCCAGGTGAAGT	0.637000														27			43		0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103352591	103352591	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:103352591G>A	uc001dum.3	-	62	4984	c.4666C>T	c.(4666-4668)Cag>Tag	p.Q1556*	COL11A1_uc001duk.3_Nonsense_Mutation_p.Q740*|COL11A1_uc001dul.3_Nonsense_Mutation_p.Q1544*|COL11A1_uc001dun.3_Nonsense_Mutation_p.Q1505*|COL11A1_uc009weh.3_Nonsense_Mutation_p.Q1428*	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1544	Nonhelical region (C-terminal).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTAAAGGCTGAATGACTTCA	0.368000														12			14		0	0	0.001523	0	0
MYH3	4621	broad.mit.edu	37	17	10543369	10543369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10543369C>T	uc002gmq.2	-	21	2714	c.2626G>A	c.(2626-2628)Gaa>Aaa	p.E876K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	876					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCAGTTTTTCCTCTAGCTCC	0.428000														81			28		0	0	0.006320	0	0
RTN1	6252	broad.mit.edu	37	14	60194362	60194362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60194362C>T	uc001xen.1	-	2	1249	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	347					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCTGCCTTTCCCCTGGGATTC	0.577000														27			19		0	0	0.002780	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553283	140553283	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140553283C>T	uc003lit.3	+	0	1041	c.867C>T	c.(865-867)ctC>ctT	p.L289L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	289	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L289F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGAATTCTCAAAACGTTTC	0.413000														46			67		0	0	0.003610	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212507	50212507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:50212507G>A	uc001zxu.3	-	17	2001	c.1859C>T	c.(1858-1860)gCt>gTt	p.A620V	ATP8B4_uc010ber.3_Missense_Mutation_p.A493V|ATP8B4_uc010ufd.2_Missense_Mutation_p.A430V|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	620					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGTGGCAGCATTCGCATC	0.438000														82			76		0	0	0.003610	0	0
SLC39A6	25800	broad.mit.edu	37	18	33689570	33689570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:33689570G>A	uc010dmy.3	-	9	2544	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C		NM_012319	NP_001092876	Q13433	S39A6_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA.	752						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AAATTTATACGAAACACGATT	0.343000														65			24		0	0	0.002780	0	0
DNAH3	55567	broad.mit.edu	37	16	20994187	20994187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20994187G>A	uc010vbe.2	-	48	7715	c.7715C>T	c.(7714-7716)gCc>gTc	p.A2572V	DNAH3_uc010vbd.2_Missense_Mutation_p.A7V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2572	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTCCTGAAGGCATCCCCTAT	0.517000														62			23		0	0	0.004656	0	0
CDRT15	146822	broad.mit.edu	37	17	14140101	14140101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:14140101C>T	uc010vvu.2	-	0	50	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.	17										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CTCACTCCCTCCATTCCTGAA	0.567000														18			7		0	0	0.003080	0	0
TRA@	6955	broad.mit.edu	37	14	22111759	22111759	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:22111759G>A	uc001wbk.3	+	1	363	c.330G>A	c.(328-330)aaG>aaA	p.K110K						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		TCCTTTTGAAGGAGCTCCAGA	0.453000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									84			17		0	0	0.004990	0	0
PREX2	80243	broad.mit.edu	37	8	69020515	69020515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:69020515G>A	uc003xxv.1	+	23	2914	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	PREX2_uc011lez.1_Missense_Mutation_p.D898N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	963					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTTCAGTTGGATAGCAGGAA	0.393000														18			5		0	0	0.000602	0	0
MLL3	58508	broad.mit.edu	37	7	151851387	151851387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:151851387G>A	uc003wla.3	-	46	12323	c.12104C>T	c.(12103-12105)cCc>cTc	p.P4035L	MLL3_uc003wkz.3_Missense_Mutation_p.P3153L|MLL3_uc003wkx.3_Missense_Mutation_p.P193L|MLL3_uc003wky.3_Missense_Mutation_p.P1599L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4035					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGAATGATGGGGGACGGCAC	0.453000			N		medulloblastoma									61			19		0	0	0.007413	0	0
PRRG3	79057	broad.mit.edu	37	X	150869197	150869197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:150869197C>T	uc022cgt.1	+	3	437	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	PRRG3_uc004few.2_Missense_Mutation_p.P130S	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	130						extracellular region|integral to membrane	calcium ion binding	p.P130H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCACACCCTCCCCCGGGTCAT	0.652000														71			29		0	0	0.001786	0	0
PKD1	5310	broad.mit.edu	37	16	2147915	2147915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:2147915G>A	uc002cos.1	-	30	10330	c.10121C>T	c.(10120-10122)tCc>tTc	p.S3374F	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S3374F|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3374					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTCCAGCACGGACGAGTCCAG	0.697000														21			4		0	0	0.000248	0	0
C2orf62	375307	broad.mit.edu	37	2	219232608	219232608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:219232608C>T	uc002vhr.3	+	9	1114	c.1085C>T	c.(1084-1086)cCg>cTg	p.P362L	BC038211_uc002vht.3_5'Flank	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	362										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTCGTCACCGGCCTTGGGC	0.726000														42			19		0	0	0.001882	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222243	118222243	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:118222243T>A	uc004era.4	-	10	2950	c.2950A>T	c.(2950-2952)Aaa>Taa	p.K984*		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	984										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAAAGAAGTTTAGGAGGCAGA	0.453000														31			9		0	0	0.004482	0	0
SETBP1	26040	broad.mit.edu	37	18	42532130	42532130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:42532130G>A	uc010dni.3	+	3	3121	c.2825G>A	c.(2824-2826)cGg>cAg	p.R942Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	942						nucleus	DNA binding			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)		AAGAGGAAACGGAAAAGCCTG	0.522000									Schinzel-Giedion syndrome					17			5		0	0	0.000602	0	0
ACE	1636	broad.mit.edu	37	17	61558963	61558963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:61558963G>A	uc002jau.2	+	6	1016	c.982G>A	c.(982-984)Gag>Aag	p.E328K	ACE_uc010wpi.2_Missense_Mutation_p.E328K|ACE_uc010ddu.2_Missense_Mutation_p.E145K	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	328	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTGGCAGAGGAGTTCTTCAC	0.682000														26			12		0	0	0.001855	0	0
ZNF423	23090	broad.mit.edu	37	16	49672682	49672682	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:49672682G>A	uc002efs.3	-	4	679	c.381C>T	c.(379-381)ctC>ctT	p.L127L	ZNF423_uc010vgn.2_Silent_p.L10L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	127					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTCCTCGCCGAGGCCGAGGT	0.602000														31			12		0	0	0.001368	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789141	56789141	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:56789141G>A	uc003dih.2	-	5	449	c.339C>T	c.(337-339)atC>atT	p.I113I	ARHGEF3_uc011bew.1_Silent_p.I81I|ARHGEF3_uc011bev.1_Silent_p.I52I|ARHGEF3_uc003dif.2_Silent_p.I87I|ARHGEF3_uc003dig.2_Silent_p.I81I|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Silent_p.I81I	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	81					Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGGGGGCGAGGATGTCAGGGC	0.577000														136			57		0	0	0.003610	0	0
PHF7	51533	broad.mit.edu	37	3	52457306	52457306	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52457306C>T	uc003ddy.3	+	10	1925	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	PHF7_uc003ddz.3_Silent_p.I334I	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	373						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTGTCAGAATCACTAACAGCT	0.517000														27			22		0	0	0.004656	0	0
WDR44	54521	broad.mit.edu	37	X	117532377	117532377	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:117532377A>G	uc004eqn.3	+	7	1649	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E	WDR44_uc004eqo.3_Silent_p.E406E|WDR44_uc011mtr.2_Silent_p.E381E|WDR44_uc010nqi.3_Silent_p.E116E	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	406						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAGATGATGAAGAGAAGTTAC	0.348000														28			11		0	0	0.001368	0	0
NEK1	4750	broad.mit.edu	37	4	170506614	170506614	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:170506614G>A	uc003isd.2	-	9	1271	c.693C>T	c.(691-693)ctC>ctT	p.L231L	NEK1_uc003ise.2_Silent_p.L231L|NEK1_uc003isb.2_Silent_p.L231L|NEK1_uc003isc.2_Silent_p.L231L|NEK1_uc003isf.2_Silent_p.L231L|NEK1_uc003isg.1_Silent_p.L152L	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	231	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CCAAACTGCGGAGATCATAGG	0.373000														22			15		0	0	0.003163	0	0
AADAC	13	broad.mit.edu	37	3	151545949	151545949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151545949G>A	uc003eze.3	+	4	1279	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	397					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGGCTAAAGGAAAATCTATA	0.303000														20			8		0	0	0.003080	0	0
SH3TC2	79628	broad.mit.edu	37	5	148427496	148427496	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:148427496G>A	uc003lpu.3	-	2	360	c.208C>T	c.(208-210)Cta>Tta	p.L70L	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Silent_p.L70L|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Silent_p.L70L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	70							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCCTGTAGGGGTCCATTT	0.512000														27			54		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168101504	168101504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:168101504G>A	uc002udx.3	+	8	3691	c.3602G>A	c.(3601-3603)aGg>aAg	p.R1201K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1026K|XIRP2_uc010fpq.3_Missense_Mutation_p.R979K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1026					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGCATGAGGTATAAATTT	0.343000														24			5		0	0	0.001168	0	0
DSC1	1823	broad.mit.edu	37	18	28722032	28722032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:28722032C>T	uc002kwn.3	-	8	1452	c.1190G>A	c.(1189-1191)gGa>gAa	p.G397E	DSC1_uc002kwm.3_Missense_Mutation_p.G397E	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	397	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTTCATTTCCTTGTAGGAT	0.363000														43			75		0	0	0.003610	0	0
STRA8	346673	broad.mit.edu	37	7	134916782	134916782	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:134916782C>T	uc011kpx.2	+	0	52	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	Homo sapiens stimulated by retinoic acid gene 8 homolog (mouse) (STRA8), mRNA.	18					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.L18M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AGAAATCAGGCTGTGGCAGGT	0.512000														88			35		0	0	0.006230	0	0
abParts	0	broad.mit.edu	37	14	107211097	107211097	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:107211097C>T	uc021ser.1	-	15		c.1277G>A								Parts of antibodies, mostly variable regions.																		CAACCCACTCCAGCCCTTTCC	0.562000														45			28		0	0	0.001786	0	0
OFD1	8481	broad.mit.edu	37	X	13764499	13764499	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:13764499C>T	uc004cvp.4	+	6	938	c.579C>T	c.(577-579)ttC>ttT	p.F193F	OFD1_uc004cvr.4_5'UTR|OFD1_uc011mil.2_5'UTR|OFD1_uc004cvq.4_Silent_p.F53F|OFD1_uc010nen.3_Silent_p.F192F|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Silent_p.F192F|OFD1_uc004cvv.4_Silent_p.F192F|OFD1_uc010neo.1_5'UTR	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	193					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTATCAAGTTCGAATCTTTAG	0.338000														52			18		0	0	0.006122	0	0
PFKFB1	5207	broad.mit.edu	37	X	55020374	55020374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:55020374C>T	uc004dty.1	-	0	138	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	PFKFB1_uc010nkd.1_Missense_Mutation_p.G31S|PFKFB1_uc011mol.1_Intron	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	23	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CTGCTGCTGCCGCTGCTGTGT	0.552000														5			12		0	0	0.003163	0	0
BRD8	10902	broad.mit.edu	37	5	137488410	137488410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:137488410G>A	uc003lcf.1	-	20	2672	c.2617C>T	c.(2617-2619)Cat>Tat	p.H873Y		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	873					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCATTGGGATGATCTTGTTCA	0.453000														52			16		0	0	0.007413	0	0
DALRD3	55152	broad.mit.edu	37	3	49055847	49055847	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49055847A>T	uc003cvk.1	-	0	171	c.151T>A	c.(151-153)Ttc>Atc	p.F51I	DALRD3_uc003cvl.1_Missense_Mutation_p.F51I|DALRD3_uc003cvm.1_Intron|DALRD3_uc010hko.1_5'UTR|DALRD3_uc011bca.1_Missense_Mutation_p.F51I|NDUFAF3_uc003cvn.3_5'Flank|NDUFAF3_uc003cvp.3_5'Flank	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	51					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTCATCGAAGCGCGCCTGC	0.731000														4			4		0	0	0.001984	0	0
KCNF1	3754	broad.mit.edu	37	2	11053986	11053986	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:11053986C>T	uc002rax.3	+	0	1924	c.1434C>T	c.(1432-1434)ccC>ccT	p.P478P		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	478						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCTTCATCCCCCTCCTGACCG	0.657000														19			28		0	0	0.002836	0	0
OR52E2	119678	broad.mit.edu	37	11	5079937	5079937	+	Silent	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5079937T>A	uc010qyw.2	-	0	921	c.921A>T	c.(919-921)atA>atT	p.I307I		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTGCAATAATATTTTCTTCA	0.363000														16			6		0	0	0.001168	0	0
MAPK13	5603	broad.mit.edu	37	6	36107131	36107131	+	Missense_Mutation	SNP	G	A	A	rs150915766	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:36107131G>A	uc003ols.3	+	11	1177	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	360					Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TCACGGCGCCGGAGTGGCATG	0.547000														33			53		0	0	0.003610	0	0
ACSL1	2180	broad.mit.edu	37	4	185724659	185724659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:185724659G>A	uc003iww.2	-	1	304	c.10C>T	c.(10-12)Cat>Tat	p.H4Y	ACSL1_uc011ckm.1_5'UTR|ACSL1_uc003iwt.1_Missense_Mutation_p.H4Y|ACSL1_uc003iwu.1_Missense_Mutation_p.H4Y|ACSL1_uc011ckn.1_Missense_Mutation_p.H4Y	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	4					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACAGCTCATGGGCTTGCATT	0.502000														8			9		0	0	0.000673	0	0
SPDYC	387778	broad.mit.edu	37	11	64939437	64939437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64939437C>T	uc010rnz.2	+	2	223	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	75	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.F74F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCAGGAATTCCTCTCCAAAGA	0.527000														56			26		0	0	0.001786	0	0
METTL17	64745	broad.mit.edu	37	14	21464434	21464435	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:21464434_21464435CC>TT	uc001vyo.3	+	11	1260_1261	c.1063_1064CC>TT	c.(1063-1065)ccc>TTc	p.P355F	METTL17_uc001vym.3_Missense_Mutation_p.P355F|METTL17_uc001vyn.3_Missense_Mutation_p.P355F|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	355					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGCGTACCATCCCATCCCCTTC	0.475000														168			130		0	0	0.004672	0	0
CCBP2	1238	broad.mit.edu	37	3	42906672	42906672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:42906672G>A	uc003cme.3	+	2	856	c.678G>A	c.(676-678)atG>atA	p.M226I	CCBP2_uc003cmf.3_Missense_Mutation_p.M226I|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.M226I	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	226					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCTTGCCATGATCTTCTTCT	0.567000														88			35		0	0	0.004878	0	0
ASTN1	460	broad.mit.edu	37	1	177030324	177030324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:177030324G>A	uc001glc.3	-	1	573	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	ASTN1_uc001glb.1_Missense_Mutation_p.H121Y|ASTN1_uc001gld.1_Missense_Mutation_p.H121Y|ASTN1_uc009wwx.1_Missense_Mutation_p.H121Y	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	121					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATGAATGTGAAAAAGCAAA	0.522000														28			9		0	0	0.006214	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172522	207172522	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:207172522G>A	uc002vbp.2	+	4	3520	c.3270G>A	c.(3268-3270)gcG>gcA	p.A1090A		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1090							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCAGGAAGCGGTTAAAAAAA	0.308000														16			6		0	0	0.001168	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601781	138601781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138601781G>A	uc011kql.2	-	1	2640	c.2591C>T	c.(2590-2592)aCc>aTc	p.T864I	KIAA1549_uc011kqj.2_Missense_Mutation_p.T864I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	864						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCCACGACGGTCAGCTCTGT	0.602000			O	BRAF	pilocytic astrocytoma									29			5		0	0	0.000602	0	0
UNC5B	219699	broad.mit.edu	37	10	73057762	73057762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:73057762C>T	uc001jro.3	+	15	3038	c.2587C>T	c.(2587-2589)Cgc>Tgc	p.R863C	UNC5B_uc001jrp.3_Missense_Mutation_p.R852C	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	863					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTGTCCATCCGCCAGAAGAT	0.577000														20			25		0	0	0.003330	0	0
HJURP	55355	broad.mit.edu	37	2	234754447	234754447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234754447G>A	uc002vvg.3	-	5	488	c.422C>T	c.(421-423)cCt>cTt	p.P141L	HJURP_uc010znd.2_Missense_Mutation_p.P80L|HJURP_uc010zne.2_Intron	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	141					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ATTTTTCAAAGGGCTTTGAGG	0.393000														87			42		0	0	0.003610	0	0
KLHL4	56062	broad.mit.edu	37	X	86869550	86869550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:86869550C>T	uc004efa.2	+	2	886	c.704C>T	c.(703-705)tCc>tTc	p.S235F	KLHL4_uc004efb.2_Missense_Mutation_p.S235F	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	235	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCACTAAATTCCTTGGTGCAG	0.363000														9			3		0	0	0.004672	0	0
CSF3	1440	broad.mit.edu	37	17	38172855	38172855	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38172855G>T	uc002htp.3	+	3	544	c.430G>T	c.(430-432)Gcc>Tcc	p.A144S	CSF3_uc002hto.3_Missense_Mutation_p.A141S|CSF3_uc002htq.3_Missense_Mutation_p.A137S|CSF3_uc021tww.1_Missense_Mutation_p.A105S|CSF3_uc021twx.1_Missense_Mutation_p.A108S|CSF3_uc010wep.2_Missense_Mutation_p.A101S	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	144					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCTGGACGTCGCCGACTTTGC	0.632000														73			37		4.92203e-23	9.43017e-23	0.006230	1	0
PKD1L1	168507	broad.mit.edu	37	7	47840444	47840444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:47840444G>A	uc003tny.2	-	53	8030	c.7996C>T	c.(7996-7998)Cac>Tac	p.H2666Y	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2666					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGGTGCAGGTGGGAGAGGGCG	0.542000														27			12		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	14	106237754	106237754	+	RNA	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106237754A>G	uc001ysh.1	-	0		c.1360T>C			abParts_uc021ser.1_Splice_Site|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|abParts_uc001ysi.1_Non-coding_Transcript					Homo sapiens mRNA for FLJ00385 protein.																		TGCAAGAGAGATGGCGCCATG	0.672000														84			4		0	0	0.000602	0	0
TOP2A	7153	broad.mit.edu	37	17	38572723	38572723	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38572723C>T	uc002huq.3	-	2	378	c.219G>A	c.(217-219)agG>agA	p.R73R		NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	73					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AAGTGACTTCCCTATAGTTAA	0.303000														27			11		0	0	0.003163	0	0
OR51G2	81282	broad.mit.edu	37	11	4936407	4936407	+	Missense_Mutation	SNP	G	A	A	rs35090253		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:4936407G>A	uc001lzr.1	-	0	487	c.487C>T	c.(487-489)Cca>Tca	p.P163S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P163fs*27(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGTAATGGAAAAATGAGT	0.473000														10			3		0	0	0.004672	0	0
ZNF41	7592	broad.mit.edu	37	X	47308281	47308281	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:47308281T>A	uc004dhs.4	-	3	1081	c.1014A>T	c.(1012-1014)gaA>gaT	p.E338D	ZNF41_uc004dhu.4_Missense_Mutation_p.E330D|ZNF41_uc004dht.4_Missense_Mutation_p.E210D|ZNF41_uc004dhv.4_Missense_Mutation_p.E306D|ZNF41_uc004dhw.4_Missense_Mutation_p.E298D|ZNF41_uc004dhy.4_Missense_Mutation_p.E296D|ZNF41_uc004dhx.4_Missense_Mutation_p.E296D|ZNF41_uc011mlm.2_Missense_Mutation_p.E210D	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	338						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CACGGGACTTTTCTCCAGCAT	0.418000														32			41		0	0	0.002222	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492506	74492506	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:74492506C>T	uc001dfy.4	-	7	2058	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	622										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATTTTATCAGTCCATTGG	0.289000														2			5		0	0	0.001168	0	0
METAP1	23173	broad.mit.edu	37	4	99962231	99962231	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:99962231T>A	uc003huf.4	+	5	587	c.470T>A	c.(469-471)aTt>aAt	p.I157N	METAP1_uc003hug.3_Non-coding_Transcript	NM_015143	NP_055958	P53582	AMPM1_HUMAN	Homo sapiens methionyl aminopeptidase 1 (METAP1), mRNA.	157					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		GCCGGCATGATTAAACCAGGT	0.338000														4			3		0	0	0.004672	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558145	140558145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140558145C>T	uc011dai.2	+	0	775	c.530C>T	c.(529-531)tCc>tTc	p.S177F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	177	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCCAACTCCTATTTTCGG	0.502000														61			18		0	0	0.001523	0	0
KCNG4	93107	broad.mit.edu	37	16	84256268	84256268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84256268C>T	uc010voc.2	-	2	1236	c.1115G>A	c.(1114-1116)gGc>gAc	p.G372D		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	372						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AAGGAGCAGGCCGAACTCACG	0.662000														18			9		0	0	0.004482	0	0
PTPN5	84867	broad.mit.edu	37	11	18765681	18765681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:18765681C>T	uc001mpd.3	-	3	594	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PTPN5_uc001mpb.3_Missense_Mutation_p.E55K|PTPN5_uc001mpc.3_Missense_Mutation_p.E55K|PTPN5_uc010rdj.2_Missense_Mutation_p.E31K|PTPN5_uc001mpf.3_Missense_Mutation_p.E31K|PTPN5_uc001mpe.3_Missense_Mutation_p.E55K|PTPN5_uc010rdk.2_Splice_Site	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	55						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGCGGCATCTCTCTCTGTGAG	0.657000														228			89		0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216289873	216289873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:216289873C>T	uc002vfa.3	-	6	1246	c.980G>A	c.(979-981)gGa>gAa	p.G327E	FN1_uc002vfc.3_Missense_Mutation_p.G327E|FN1_uc002vfe.3_Missense_Mutation_p.G327E|FN1_uc002vff.3_Missense_Mutation_p.G327E|FN1_uc002vfg.3_Missense_Mutation_p.G327E|FN1_uc002vfh.3_Missense_Mutation_p.G327E|FN1_uc002vfi.3_Missense_Mutation_p.G327E|FN1_uc002vfj.3_Missense_Mutation_p.G327E|FN1_uc002vfb.3_Missense_Mutation_p.G327E|FN1_uc002vfl.3_Missense_Mutation_p.G327E	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	327	Collagen-binding.|Fibronectin type-I 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCTTATTTCCTTGTGTCTT	0.502000														171			84		0	0	0.003610	0	0
C1orf61	10485	broad.mit.edu	37	1	156377662	156377662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:156377662C>T	uc001fou.1	-	4	550	c.277G>A	c.(277-279)Gat>Aat	p.D93N	BC016978_uc001fot.1_5'Flank|C1orf61_uc001fov.1_Non-coding_Transcript|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	93						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GCCATCACATCGGGGACTTGA	0.557000														27			12		0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	2876082	2876082	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:2876082T>C	uc022aqr.1	-	51	8336	c.7946A>G	c.(7945-7947)aAc>aGc	p.N2649S	CSMD1_uc011kwj.2_Missense_Mutation_p.N1979S|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2650	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAGCCGGTGTTGCACGTAAA	0.493000														190			59		0	0	0.003610	0	0
CARS	833	broad.mit.edu	37	11	3047965	3047965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:3047965G>A	uc001lxf.3	-	9	1178	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	CARS_uc010qxo.2_Missense_Mutation_p.S365F|CARS_uc001lxe.3_Missense_Mutation_p.S272F|CARS_uc001lxg.3_Missense_Mutation_p.S282F|CARS_uc001lxh.3_Missense_Mutation_p.S282F|CARS_uc010qxp.2_Missense_Mutation_p.S295F|AX747870_uc001lxi.1_5'Flank	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	282					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCCCATAGGAGTGCTTCTC	0.522000			T	ALK	ALCL									60			99		0	0	0.003610	0	0
MGAT5	4249	broad.mit.edu	37	2	135119899	135119899	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:135119899T>A	uc002ttw.4	+	9	1445	c.1300T>A	c.(1300-1302)Tcc>Acc	p.S434T		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	434					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCACCTGAACTCCAGTGATAT	0.478000														94			57		0	0	0.003610	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553139	44553139	+	Silent	SNP	A	C	C	rs114488279	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44553139A>C	uc003tlb.3	-	19	4043	c.3987T>G	c.(3985-3987)gcT>gcG	p.A1329A	NPC1L1_uc011kbw.2_Silent_p.A1256A|NPC1L1_uc003tlc.3_Silent_p.A1302A|NPC1L1_uc003tla.3_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1329					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGATGTTGTCAGCTGTGGAGA	0.562000														154			40		0	0	0.002522	0	0
GMPPB	29925	broad.mit.edu	37	3	49760828	49760828	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49760828C>A	uc003cxl.1	-	1	432	c.207G>T	c.(205-207)caG>caT	p.Q69H	GMPPB_uc003cxk.1_Missense_Mutation_p.Q69H	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	69					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTCACCCTCTGCTCCTGTG	0.612000														66			25		6.32553e-13	1.20623e-12	0.004656	1	0
LMTK3	114783	broad.mit.edu	37	19	49012131	49012131	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:49012131G>A	uc002pjk.3	-	5	621	c.621C>T	c.(619-621)ttC>ttT	p.F207F		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)		CTTCCGAGATGAACTTGCGTT	0.592000														88			36		0	0	0.005524	0	0
KCNS2	3788	broad.mit.edu	37	8	99441007	99441007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:99441007C>T	uc003yin.3	+	1	1150	c.800C>T	c.(799-801)tCc>tTc	p.S267F	KCNS2_uc022azb.1_Missense_Mutation_p.S267F	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	267						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GACCTCATGTCCATCGTCCCC	0.537000														148			41		0	0	0.002852	0	0
ERN1	2081	broad.mit.edu	37	17	62132154	62132154	+	Silent	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:62132154A>T	uc002jdz.2	-	13	1820	c.1707T>A	c.(1705-1707)atT>atA	p.I569I		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	569					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GACAGAAGGAAATTTTCCCAA	0.488000														12			10		0	0	0.001368	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299403	125299403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:125299403C>T	uc004euk.2	-	0	678	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	169										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTGGGGTTTTCGCCGCCGGTG	0.677000														79			41		0	0	0.001951	0	0
DNAH17	8632	broad.mit.edu	37	17	76440879	76440879	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:76440879C>T	uc010dhp.2	-	71	11460	c.11335_splice	c.e71-1	p.A3779_splice	DNAH17_uc002jvq.3_Splice_Site_p.A64_splice|DNAH17_uc002jvs.3_Splice_Site	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGAGAGGGCCTAGGGGCAG	0.577000														37			9		0	0	0.000673	0	0
USH2A	7399	broad.mit.edu	37	1	215848525	215848525	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:215848525C>T	uc001hku.1	-	62	13115	c.12728G>A	c.(12727-12729)tGg>tAg	p.W4243*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4243	Fibronectin type-III 27.				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)		AGCTGAATTCCAAGTGTAGAT	0.398000										HNSCC(13;0.011)				13			4		0	0	0.000248	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960628	73960628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73960628C>T	uc004eby.3	-	2	4381	c.3764G>A	c.(3763-3765)gGg>gAg	p.G1255E		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1255					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAATGTCTTCCCAGTGGAGGA	0.493000														9			7		0	0	0.001984	0	0
LHX3	8022	broad.mit.edu	37	9	139089186	139089186	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:139089186G>A	uc004cgz.3	-	5	1313	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	LHX3_uc022bpm.1_3'UTR|LHX3_uc004cha.3_Silent_p.D393D	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	393					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACTGAGCGTGGTCTACCTCAT	0.682000														30			16		0	0	0.001216	0	0
ECE2	9718	broad.mit.edu	37	3	184008617	184008617	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:184008617C>T	uc003fni.4	+	15	2195	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	ECE2_uc011brh.1_Silent_p.G572G|ECE2_uc003fnl.4_Silent_p.G647G|ECE2_uc003fnm.4_Silent_p.G601G|ECE2_uc003fnk.4_Silent_p.G572G|ECE2_uc011bri.1_Silent_p.G634G|ECE2_uc010hxv.3_Silent_p.G363G	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	719	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.F719F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGTCATGGGCCATGAGTTGA	0.587000														41			54		0	0	0.003610	0	0
COL4A2	1284	broad.mit.edu	37	13	111114710	111114710	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:111114710C>T	uc001vqx.3	+	23	2044	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	585	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGATGGATTCCCCGGCCTCC	0.622000														20			49		0	0	0.003610	0	0
TRIM9	114088	broad.mit.edu	37	14	51446146	51446146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:51446146C>T	uc001wyx.4	-	8	2794	c.2029G>A	c.(2029-2031)Ggc>Agc	p.G677S	TRIM9_uc001wyy.2_Missense_Mutation_p.G758S	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	677	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.E676*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AAGAAGAGGCCCTCCACGTTA	0.502000														118			49		0	0	0.003610	0	0
GABRA6	2559	broad.mit.edu	37	5	161116746	161116746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:161116746G>A	uc003lyu.2	+	5	972	c.634G>A	c.(634-636)Gga>Aga	p.G212R	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	212					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGATCTGATTGGACAAACAGT	0.373000										TCGA Ovarian(5;0.080)				25			34		0	0	0.002836	0	0
WDR59	79726	broad.mit.edu	37	16	74922108	74922108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:74922108G>A	uc002fdh.1	-	21	2407	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	WDR59_uc002fdf.1_Missense_Mutation_p.P214S|WDR59_uc002fdg.1_Missense_Mutation_p.P361S	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	769										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GAACGGTTAGGAAAAGGCCCA	0.458000														22			13		0	0	0.003163	0	0
CIT	11113	broad.mit.edu	37	12	120139553	120139553	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:120139553G>A	uc001txj.2	-	42	5474	c.5418C>T	c.(5416-5418)ttC>ttT	p.F1806F	CIT_uc001txh.2_Silent_p.F1283F|CIT_uc001txi.2_Silent_p.F1764F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1764	CNH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTATCCAGGAATTCTGTAA	0.577000														29			13		0	0	0.001855	0	0
NAA60	79903	broad.mit.edu	37	16	3534798	3534798	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3534798C>T	uc002cvh.4	+	6	918	c.672C>T	c.(670-672)ttC>ttT	p.F224F	NAA60_uc010btl.3_5'UTR|NAA60_uc021tcf.1_Silent_p.F224F|NAA60_uc010btm.3_Silent_p.F224F|NAA60_uc010uxd.2_Non-coding_Transcript|NAA60_uc010uxe.2_Non-coding_Transcript	NM_001083601	NP_079121	Q9H7X0	NAT15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA.	224							N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						TCTGCAGCTTCCTGCCATGGT	0.657000														7			4		0	0	0.000248	0	0
abParts	0	broad.mit.edu	37	14	106994057	106994057	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:106994057G>A	uc021ser.1	-	233		c.9197C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAG	0.577000														80			37		0	0	0.002222	0	0
DSCR6	53820	broad.mit.edu	37	21	38380460	38380460	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:38380460C>T	uc002yvv.3	+	1	318	c.108C>T	c.(106-108)ccC>ccT	p.P36P	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	36						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GTTCCAGCCCCGCGCCGTGGC	0.577000														30			15		0	0	0.001216	0	0
XIRP2	129446	broad.mit.edu	37	2	168101077	168101077	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:168101077T>A	uc002udx.3	+	8	3264	c.3175T>A	c.(3175-3177)Ttt>Att	p.F1059I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.F884I|XIRP2_uc010fpq.3_Missense_Mutation_p.F837I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	884					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAATGGTTGTTTGAAACCCA	0.318000														9			7		0	0	0.003080	0	0
CCDC99	54908	broad.mit.edu	37	5	169028327	169028327	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:169028327C>T	uc003mae.4	+	10	1647	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	CCDC99_uc010jjj.3_Silent_p.L385L|CCDC99_uc011deq.2_Silent_p.L273L|CCDC99_uc010jjk.3_Silent_p.L182L	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	456					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGGTGCTCCCTGTGGATA	0.443000														10			16		0	0	0.001523	0	0
AIRE	326	broad.mit.edu	37	21	45712878	45712879	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:45712878_45712879CC>TT	uc002zei.2	+	9	1225_1226	c.1098_1099CC>TT	c.(1096-1101)ctcccc>ctTTcc	p.P367S	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Missense_Mutation_p.P170S|AIRE_uc010gpr.2_Missense_Mutation_p.P170S	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	367					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTTCCAGCTCCCCCCGGGGCT	0.673000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					50			30		0	0	0.004672	0	0
MITF	4286	broad.mit.edu	37	3	70014286	70014286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:70014286C>T	uc003dnz.3	+	9	1613	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	MITF_uc011bgb.2_Missense_Mutation_p.L432F|MITF_uc003doa.3_Missense_Mutation_p.L483F|MITF_uc003dob.3_Missense_Mutation_p.L468F|MITF_uc021xam.1_Missense_Mutation_p.L321F|MITF_uc003doe.3_Missense_Mutation_p.L377F|MITF_uc003dof.3_Missense_Mutation_p.L383F	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	490					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GGACGACACCCTTTCTCCCGT	0.537000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							4			10		0	0	0.000978	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851517	102851517	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:102851517T>G	uc002tbs.3	+	10	1584	c.1458T>G	c.(1456-1458)atT>atG	p.I486M	IL1RL2_uc002tbt.3_Missense_Mutation_p.I368M	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	486	TIR.			I -> V (in Ref. 1; AAG21368).	cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.L485L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTATTCTCATTGAGCTGGAGA	0.517000														93			41		0	0	0.006999	0	0
ODZ4	26011	broad.mit.edu	37	11	78412982	78412982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:78412982C>T	uc001ozl.4	-	27	5139	c.4676G>A	c.(4675-4677)cGa>cAa	p.R1559Q		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1559					signal transduction	integral to membrane		p.R1559*(2)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AAACCGAATTCGGATGTTCCC	0.493000														48			20		0	0	0.001882	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687577	151687577	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:151687577G>A	uc003qoh.3	-	2	759	c.624C>T	c.(622-624)tcC>tcT	p.S208S		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAACAGGAGTGGAAACAAGTT	0.572000														8			9		0	0	0.006214	0	0
KCNG4	93107	broad.mit.edu	37	16	84271028	84271028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:84271028G>A	uc010voc.2	-	1	185	c.64C>T	c.(64-66)Cct>Tct	p.P22S	KCNG4_uc002fhu.1_Missense_Mutation_p.P22S	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	22						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P22P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGACTCCAAGGGCTGTGGGAA	0.627000														32			26		0	0	0.004656	0	0
OR7G1	125962	broad.mit.edu	37	19	9225670	9225670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9225670C>T	uc021uoi.1	-	0	770	c.770G>A	c.(769-771)gGg>gAg	p.G257E	OR7G1_uc002mks.1_Missense_Mutation_p.G257E	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AATGTACACCCCAAAAGCTGT	0.458000														37			40		0	0	0.005524	0	0
FNIP2	57600	broad.mit.edu	37	4	159750334	159750334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:159750334G>A	uc003iqe.4	+	2	521	c.338G>A	c.(337-339)gGg>gAg	p.G113E	FNIP2_uc003iqd.2_Missense_Mutation_p.G113E	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	113	Ser-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGTTCTTCTGGGGGATCTTCA	0.468000														11			9		0	0	0.000673	0	0
ZNF526	116115	broad.mit.edu	37	19	42729905	42729905	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:42729905C>T	uc002osz.1	+	2	1506	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	ZNF526_uc021uvc.1_Silent_p.S450S	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCTCCAAGTCCTTTGCCTCAG	0.687000														31			14		0	0	0.002450	0	0
RASSF7	8045	broad.mit.edu	37	11	563619	563619	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:563619C>T	uc001lqc.3	+	5	1131	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	C11orf35_uc001lpx.3_5'Flank|RASSF7_uc001lqb.3_3'UTR|RASSF7_uc001lqd.3_3'UTR	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 (RASSF7), transcript variant 1, mRNA.	366					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTGTCCTCTGGCAGCCCA	0.652000														12			32		0	0	0.006999	0	0
PSMA8	143471	broad.mit.edu	37	18	23713976	23713976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:23713976G>A	uc002kvq.3	+	0	161	c.47G>A	c.(46-48)gGa>gAa	p.G16E	PSMA8_uc002kvo.3_Missense_Mutation_p.G16E|PSMA8_uc002kvp.3_Missense_Mutation_p.G16E|PSMA8_uc002kvr.3_5'UTR	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	16					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TCCCCAGACGGACACCTTTTT	0.562000														72			37		0	0	0.001951	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760695	186760695	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:186760695C>T	uc003frb.3	+	3	837	c.204C>T	c.(202-204)acC>acT	p.T68T	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Silent_p.T68T	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	68					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CAAGCAGCACCCAGGACCCCC	0.547000														22			7		0	0	0.003080	0	0
SMS	6611	broad.mit.edu	37	X	21996172	21996172	+	Silent	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:21996172A>T	uc004dag.3	+	5	828	c.600A>T	c.(598-600)ggA>ggT	p.G200G	SMS_uc011mjq.2_Silent_p.G104G	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	200					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGGGAGGTGGAGACGGAGGCA	0.443000														25			38		0	0	0.006999	0	0
CSF3	1440	broad.mit.edu	37	17	38173074	38173074	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:38173074C>T	uc002htp.3	+	4	600	c.486C>T	c.(484-486)gcC>gcT	p.A162A	CSF3_uc002hto.3_Silent_p.A159A|CSF3_uc002htq.3_Silent_p.A155A|CSF3_uc021tww.1_Silent_p.A123A|CSF3_uc021twx.1_Silent_p.A126A|CSF3_uc010wep.2_Silent_p.A119A	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	162					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGCCCCTGCCCTGCAGCCCA	0.622000														53			20		0	0	0.002780	0	0
ADAP2	55803	broad.mit.edu	37	17	29283462	29283463	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:29283462_29283463CC>TT	uc010csk.3	+	9	1383_1384	c.1104_1105CC>TT	c.(1102-1107)agcccc>agTTcc	p.P369S	ADAP2_uc002hfy.3_Missense_Mutation_p.P362S|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.P363S	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	363					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCCTGTCCAGCCCCTTGACGCC	0.535000														14			5		0	0	0.004672	0	0
LRRC32	2615	broad.mit.edu	37	11	76372013	76372013	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:76372013G>A	uc001oxq.4	-	2	867	c.624C>T	c.(622-624)tcC>tcT	p.S208S	LRRC32_uc001oxr.4_Silent_p.S208S|LRRC32_uc010rsf.2_Silent_p.S208S	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	208						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGCAGGTGAGGGAATTCCTGG	0.617000														48			21		0	0	0.001882	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299239	125299239	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:125299239G>A	uc004euk.2	-	0	842	c.669C>T	c.(667-669)gaC>gaT	p.D223D		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	223										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ACATGTCTGGGTCCATCCGCC	0.632000														62			15		0	0	0.003163	0	0
PLCB1	23236	broad.mit.edu	37	20	8713928	8713928	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:8713928G>A	uc002wnb.3	+	18	1935	c.1932G>A	c.(1930-1932)ggG>ggA	p.G644G	PLCB1_uc010zrb.1_Silent_p.G543G|PLCB1_uc002wna.3_Silent_p.G644G|PLCB1_uc002wnc.1_Silent_p.G543G|PLCB1_uc002wnd.1_Silent_p.G221G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	644	PI-PLC Y-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AATACAACGGGAAGAGTGGCT	0.413000														91			29		0	0	0.006320	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160735213	160735213	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:160735213T>G	uc002ubb.4	-	9	1609	c.1535A>C	c.(1534-1536)gAa>gCa	p.E512A	LY75-CD302_uc010fos.3_Missense_Mutation_p.E512A|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E512A|LY75-CD302_uc010fot.2_Missense_Mutation_p.E512A	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	512	C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GTAACAGGTTTCTCCATGTCT	0.418000														8			5		0	0	0.000602	0	0
TTC26	79989	broad.mit.edu	37	7	138831982	138831982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138831982G>A	uc003vus.2	+	5	605	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	TTC26_uc003vuq.2_Missense_Mutation_p.R164Q|TTC26_uc011kqm.1_Intron|TTC26_uc003vur.4_Missense_Mutation_p.R164Q|TTC26_uc011kqn.1_Missense_Mutation_p.R164Q|TTC26_uc011kqo.1_Missense_Mutation_p.R133Q|TTC26_uc011kqp.1_Missense_Mutation_p.R59Q|TTC26_uc003vut.2_Missense_Mutation_p.R24Q|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	164							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CACTATATGCGATCTCACTAC	0.358000														137			28		0	0	0.005443	0	0
STARD13	90627	broad.mit.edu	37	13	33704024	33704024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:33704024C>T	uc001uuw.3	-	4	916	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	STARD13_uc001uuu.3_Missense_Mutation_p.E256K|STARD13_uc001uuv.3_Missense_Mutation_p.E146K|STARD13_uc001uux.3_Missense_Mutation_p.E229K|STARD13_uc010abh.1_Missense_Mutation_p.E249K|STARD13_uc021rhz.1_Missense_Mutation_p.E256K|STARD13_uc021ria.1_Missense_Mutation_p.E146K	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CGGAGTGTTTCCATGCGTTTC	0.607000														49			58		0	0	0.003610	0	0
AUTS2	26053	broad.mit.edu	37	7	70255834	70255834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:70255834C>T	uc003tvw.4	+	18	4367	c.3632C>T	c.(3631-3633)aCc>aTc	p.T1211I	AUTS2_uc003tvx.4_Missense_Mutation_p.T1187I|AUTS2_uc011keg.2_Missense_Mutation_p.T663I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1211										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCAACAAGACCCCTCCGACA	0.677000														37			16		0	0	0.004990	0	0
FLJ43860	389690	broad.mit.edu	37	8	142488719	142488719	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142488719C>T	uc003ywi.2	-	10	1323	c.1242_splice	c.e10+1	p.W414_splice	FLJ43860_uc011ljs.1_Splice_Site|FLJ43860_uc010meu.1_Splice_Site	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	414							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGAGGCCTACCCAAGAGCTGT	0.652000														35			12		0	0	0.001855	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386087	50386087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50386087C>T	uc002pqo.3	+	7	1164	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Missense_Mutation_p.H256Y|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	289						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GTGGGCACGCCACGTGGGCCC	0.662000														28			23		0	0	0.002299	0	0
ICA1	3382	broad.mit.edu	37	7	8257984	8257984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:8257984G>A	uc003sro.4	-	5	666	c.530C>T	c.(529-531)tCt>tTt	p.S177F	ICA1_uc010ktr.3_Missense_Mutation_p.S177F|ICA1_uc003srm.3_Missense_Mutation_p.S177F|ICA1_uc003srn.4_Missense_Mutation_p.S103F|ICA1_uc003srq.3_Missense_Mutation_p.S177F|ICA1_uc003srr.3_Missense_Mutation_p.S176F|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Missense_Mutation_p.S177F	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	177	AH.				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)		AAGCTCCTGAGACACGTCCTT	0.498000														27			8		0	0	0.000673	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279876	53279876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53279876G>A	uc004dsd.3	-	4	2083	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	IQSEC2_uc004dsc.3_Missense_Mutation_p.P423S|IQSEC2_uc022bxf.1_Missense_Mutation_p.P391S	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	618	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCCCATGGGGGCTGCAGCCA	0.672000														35			15		0	0	0.006122	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401041	17401041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:17401041G>A	uc011kye.2	+	1	361	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	SLC7A2_uc011kyc.2_Missense_Mutation_p.G65S|SLC7A2_uc011kyd.2_Missense_Mutation_p.G105S	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	65					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCAGACTCGGGCCCCAGCAT	0.632000														12			17		0	0	0.004990	0	0
GABRB3	2562	broad.mit.edu	37	15	26806166	26806166	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:26806166G>A	uc001zbb.3	-	8	1264	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	GABRB3_uc021sgg.1_Silent_p.F260F|GABRB3_uc021sgh.1_Silent_p.F246F|GABRB3_uc001zaz.3_Silent_p.F331F|GABRB3_uc001zba.3_Silent_p.F331F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	331					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.D387N(1)|p.G386G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCTTCCAAAGAAAATGTAGT	0.483000														62			19		0	0	0.007413	0	0
CDH22	64405	broad.mit.edu	37	20	44869684	44869684	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:44869684G>A	uc002xrm.2	-	1	867	c.468C>T	c.(466-468)atC>atT	p.I156I	CDH22_uc010ghk.1_Silent_p.I156I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	156	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGCACCTTGATGATGAACT	0.642000														106			25		0	0	0.005443	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270726	97270726	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:97270726A>C	uc003yhs.1	-	1	271	c.193T>G	c.(193-195)Tcc>Gcc	p.S65A	MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Missense_Mutation_p.S65A	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	65					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TTCCATAAGGAGGAAGTCCTG	0.443000														101			39		0	0	0.006999	0	0
PAK7	57144	broad.mit.edu	37	20	9547019	9547019	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:9547019G>A	uc002wnl.2	-	5	1548	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PAK7_uc002wnk.2_Nonsense_Mutation_p.R335*|PAK7_uc002wnj.2_Nonsense_Mutation_p.R335*|PAK7_uc010gby.1_Nonsense_Mutation_p.R335*	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	335	Linker.		R -> P (in dbSNP:rs11700112).				ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTGCTCGATCGTAATCC	0.537000														83			29		0	0	0.007291	0	0
DSCAM	1826	broad.mit.edu	37	21	42080614	42080614	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:42080614G>A	uc002yyq.1	-	1	579	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	43	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGGCACCAGAGTCCCCGTG	0.572000														112			86		0	0	0.003610	0	0
ADCY9	115	broad.mit.edu	37	16	4016886	4016886	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4016886G>A	uc002cvx.3	-	10	3491	c.2952C>T	c.(2950-2952)ctC>ctT	p.L984L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	984					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	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAAAGAAGACGAGAACCACCT	0.592000														94			51		0	0	0.003610	0	0
SUMO1P1	391257	broad.mit.edu	37	20	52491856	52491856	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:52491856C>T	uc010gik.3	-	0		c.393G>A								Homo sapiens SUMO1 pseudogene 1 (SUMO1P1), non-coding RNA.											kidney(1)	1						TCCTCCATTCCCAGTTCTTCT	0.403000														9			7		0	0	0.001984	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545322	234545322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:234545322G>A	uc002vur.3	+	0	200	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.G52R	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	54					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TATCCTCAGGGGGCATGAGGT	0.532000														12			9		0	0	0.000673	0	0
FARS2	10667	broad.mit.edu	37	6	5368915	5368915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:5368915G>A	uc010jnv.1	+	1	448	c.112G>A	c.(112-114)Gca>Aca	p.A38T	FARS2_uc003mwr.2_Missense_Mutation_p.A38T	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	38					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GAGGCCTCCTGCAGCAGAGTG	0.602000														17			7		0	0	0.003080	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912858	77912858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:77912858C>T	uc022bzi.1	-	0	1060	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	ZCCHC5_uc004edc.1_Missense_Mutation_p.E354K	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	354							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGAGTGCTTTCATCCCAGTTC	0.478000														14			8		0	0	0.003080	0	0
HYDIN	54768	broad.mit.edu	37	16	71054098	71054098	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71054098G>A	uc002ezr.3	-	21	3460	c.3309C>T	c.(3307-3309)tcC>tcT	p.S1103S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1103										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGGCAGCAGGGATTTATCAG	0.498000														6			5		0	0	0.001984	0	0
CNRIP1	25927	broad.mit.edu	37	2	68546484	68546484	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:68546484G>A	uc002sek.4	-	0	700	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	CNRIP1_uc002sej.4_Nonsense_Mutation_p.Q17*|CNRIP1_uc010fdd.1_Nonsense_Mutation_p.Q17*	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA.	17							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TCATTAGGCTGGATGCGCAGC	0.692000														15			4		0	0	0.000602	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900709	4900709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:4900709G>A	uc003snk.3	-	0	917	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	244					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ACACCTCCGAGGAAACCTAAT	0.428000														131			103		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168099832	168099832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:168099832C>T	uc002udx.3	+	8	2019	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P469S|XIRP2_uc010fpq.3_Missense_Mutation_p.P422S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	469					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGAAAATTCCTGAGCTAGC	0.433000														19			15		0	0	0.002450	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153633210	153633210	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153633210C>T	uc004fks.1	-	3	461	c.270G>A	c.(268-270)ctG>ctA	p.L90L	DNASE1L1_uc004fkt.1_Silent_p.L90L|DNASE1L1_uc004fku.1_Silent_p.L90L|DNASE1L1_uc004fkv.1_Silent_p.L90L|DNASE1L1_uc004fkw.1_Silent_p.L90L	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	90					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGCGCCCCAGCTGGGGGC	0.642000														38			13		0	0	0.004990	0	0
PCNT	5116	broad.mit.edu	37	21	47832828	47832828	+	Silent	SNP	C	T	T	rs143671774	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:47832828C>T	uc002zji.4	+	28	6179	c.6072C>T	c.(6070-6072)acC>acT	p.T2024T	PCNT_uc002zjj.3_Silent_p.T1906T	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2024					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGTGCTCACCGTCTGCCAGA	0.587000														92			97		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152286884	152286884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:152286884C>T	uc001ezu.1	-	2	514	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	160					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)			CCTTTTCTTTCTTTTTTTTCA	0.338000									Ichthyosis					39			11		0	0	0.000978	0	0
C4orf50	389197	broad.mit.edu	37	4	5975535	5975535	+	RNA	SNP	C	T	T	rs142005920		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:5975535C>T	uc003git.2	-	3		c.1557G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CGGTTCCTCTCCCGGCACTTC	0.637000														25			12		0	0	0.001855	0	0
OR4C12	283093	broad.mit.edu	37	11	50004035	50004035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:50004035C>T	uc010ria.2	-	0	37	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(2)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTTCTTCTCCATCTATGTAG	0.318000														21			10		0	0	0.001368	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955354	102955354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:102955354G>A	uc002tbu.1	+	2	390	c.119G>A	c.(118-120)gGa>gAa	p.G40E	IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.G40E	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	40	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTAGACAAGGAAAACCTAGT	0.383000														30			21		0	0	0.001523	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572630	127572630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:127572630G>A	uc004bov.3	+	7	2011	c.1898G>A	c.(1897-1899)cGg>cAg	p.R633Q	OLFML2A_uc004bow.3_Missense_Mutation_p.R419Q	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	633	Olfactomedin-like.							p.E632Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCCAAGGAGCGGGTGCTGTAC	0.647000														15			32		0	0	0.002445	0	0
DIDO1	11083	broad.mit.edu	37	20	61526218	61526218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:61526218G>A	uc002ydr.2	-	9	2692	c.2380C>T	c.(2380-2382)Ccc>Tcc	p.P794S	DIDO1_uc002yds.2_Missense_Mutation_p.P794S|DIDO1_uc002ydt.2_Missense_Mutation_p.P794S|DIDO1_uc002ydu.2_Missense_Mutation_p.P794S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	794					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCTGCCTGGGGGCCGTCTTC	0.488000														75			84		0	0	0.003610	0	0
C17orf56	146705	broad.mit.edu	37	17	79205749	79205749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79205749G>A	uc002jzu.2	-	7	657	c.599C>T	c.(598-600)tCc>tTc	p.S200F	C17orf56_uc002jzr.2_5'Flank|C17orf56_uc002jzs.2_Missense_Mutation_p.S116F|C17orf56_uc002jzt.2_Missense_Mutation_p.S116F|C17orf56_uc002jzv.2_Missense_Mutation_p.S48F|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	200	Ser-rich.					integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTCTGGGAGGAATTCTGAGA	0.657000														75			28		0	0	0.006320	0	0
MYT1	4661	broad.mit.edu	37	20	62839420	62839420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:62839420G>A	uc002yii.3	+	6	1235	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	291	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaggaggaggaagaggaaga	0.562000														30			10		0	0	0.000673	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857711	144857711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:144857711G>A	uc021ouh.1	-	38	6645	c.6343C>T	c.(6343-6345)Cca>Tca	p.P2115S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.P2115S|PDE4DIP_uc001elx.4_Missense_Mutation_p.P2009S|PDE4DIP_uc001elv.4_Missense_Mutation_p.P1122S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2115					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCGGACTGGAGGGGACACA	0.537000			T	PDGFRB	MPD									31			22		0	0	0.002780	0	0
ZNF812	729648	broad.mit.edu	37	19	9801789	9801789	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9801789G>A	uc021uop.1	-	5	1036	c.390C>T	c.(388-390)gcC>gcT	p.A130A	ZNF812_uc010xkx.2_Silent_p.A26A	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	130	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTCCAATAGAGGCTTCCTTGT	0.408000														41			7		0	0	0.003080	0	0
SSFA2	6744	broad.mit.edu	37	2	182779945	182779945	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:182779945T>C	uc002uoi.3	+	10	1900	c.1578T>C	c.(1576-1578)gtT>gtC	p.V526V	SSFA2_uc002uoh.3_Silent_p.V526V|SSFA2_uc002uoj.3_Silent_p.V526V|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.V373V|SSFA2_uc002uol.3_Silent_p.V373V|SSFA2_uc002uom.3_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	526						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCACAGGTTCAGGAGTCCT	0.418000														36			51		0	0	0.003610	0	0
POLE	5426	broad.mit.edu	37	12	133225985	133225985	+	Silent	SNP	G	A	A	rs116482376	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:133225985G>A	uc001uks.1	-	30	3956	c.3912C>T	c.(3910-3912)ccC>ccT	p.P1304P	POLE_uc001ukr.1_Silent_p.P108P|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.P1277P	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1304					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGATGGCCCCGGGCCTGAGCA	0.662000								DNA polymerases (catalytic subunits)						47			27		0	0	0.005443	0	0
CEACAM21	90273	broad.mit.edu	37	19	42091803	42091803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:42091803G>A	uc002ore.4	+	4	901	c.805G>A	c.(805-807)Gat>Aat	p.D269N	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.D268N	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	269						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TAGGGCCAGCGATCAGAGTGA	0.532000														55			21		0	0	0.004656	0	0
LY86	9450	broad.mit.edu	37	6	6626578	6626578	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:6626578A>G	uc003mwy.1	+	2	310	c.276A>G	c.(274-276)tcA>tcG	p.S92S		NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	92					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CTCAAGGCTCATCTGTTTTGA	0.458000														24			14		0	0	0.003163	0	0
LRRC45	201255	broad.mit.edu	37	17	79983359	79983359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79983359C>T	uc002kde.3	+	4	877	c.637C>T	c.(637-639)Cct>Tct	p.P213S	STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	213						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAACAACATCCCTGGAGACGT	0.652000														56			17		0	0	0.007413	0	0
SCN7A	6332	broad.mit.edu	37	2	167301440	167301440	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:167301440A>G	uc002udu.2	-	11	1588	c.1458T>C	c.(1456-1458)aaT>aaC	p.N486N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	486					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.W485C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGGAGAACAATTCCAGATCA	0.299000														12			9		0	0	0.000978	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212530019	212530019	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:212530019G>A	uc001hjb.3	+	9	1552	c.978_splice	c.e9+1	p.E326_splice	PPP2R5A_uc010ptd.2_Splice_Site_p.E269_splice	NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	326					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCAGAAAGAGGTGGGTTTTGT	0.388000														30			11		0	0	0.001368	0	0
MYH2	4620	broad.mit.edu	37	17	10432155	10432155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10432155C>T	uc010coi.3	-	26	3724	c.3596G>A	c.(3595-3597)aGg>aAg	p.R1199K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1199K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1199					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGCTTCTTCCTCAGGGTGGC	0.552000														31			17		0	0	0.004990	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428654	120428654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:120428654C>T	uc003vjk.3	-	7	1284	c.910G>A	c.(910-912)Gag>Aag	p.E304K	TSPAN12_uc010lkj.3_Missense_Mutation_p.E177K	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	304					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TTTTATAACTCCTCCATCTCA	0.358000														59			18		0	0	0.001216	0	0
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	T	T	rs28933406		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:533875G>T	uc001lpv.3	-	2	369	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)				49			91		1.21397e-27	2.32923e-27	0.003610	1	0
CKAP2L	150468	broad.mit.edu	37	2	113513652	113513652	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:113513652C>T	uc002tie.2	-	3	1375	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L	CKAP2L_uc002tif.2_Silent_p.L21L|CKAP2L_uc010yxp.1_Silent_p.L267L|CKAP2L_uc010yxq.1_Silent_p.L267L	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	432						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTGTCTTGTTCAGAAAATGGT	0.413000														137			54		0	0	0.003610	0	0
GRM2	2912	broad.mit.edu	37	3	51749360	51749360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:51749360C>T	uc010hlv.3	+	3	1810	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	524					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTCTGCATTCCGTGCCAGCCC	0.627000														38			14		0	0	0.004990	0	0
NAV3	89795	broad.mit.edu	37	12	78225449	78225449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:78225449C>T	uc001syp.3	+	0	381	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	NAV3_uc001syo.3_Missense_Mutation_p.L70F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	70						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.P69P(1)		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						GAAGAAACCCCTCCAAGGAAA	0.418000										HNSCC(70;0.22)				15			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179431061	179431061	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179431061T>C	uc021vsy.1	-	274	72319	c.72094A>G	c.(72094-72096)Aaa>Gaa	p.K24032E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K17727E|TTN_uc021vta.1_Missense_Mutation_p.K17660E|TTN_uc021vtb.1_Missense_Mutation_p.K17535E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24959	Fibronectin type-III 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAATTCCTTTTCTTAATTCG	0.438000														19			6		0	0	0.001984	0	0
GAPVD1	26130	broad.mit.edu	37	9	128064778	128064778	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:128064778C>T	uc004bpp.3	+	2	862	c.702C>T	c.(700-702)ctC>ctT	p.L234L	GAPVD1_uc004bpo.3_Silent_p.L234L|GAPVD1_uc011lzs.1_Silent_p.L234L|GAPVD1_uc004bpq.3_Silent_p.L234L|GAPVD1_uc010mwx.3_Silent_p.L234L|GAPVD1_uc004bpr.3_Silent_p.L234L|GAPVD1_uc004bps.3_Silent_p.L234L|GAPVD1_uc010mwy.1_Silent_p.L93L	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	234	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGAAAAACTCTTTGGAGAGA	0.408000														8			13		0	0	0.001368	0	0
ZBBX	79740	broad.mit.edu	37	3	166960340	166960340	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:166960340G>A	uc011bpc.2	-	20	2683	c.2346C>T	c.(2344-2346)ttC>ttT	p.F782F	ZBBX_uc003feq.3_Silent_p.F714F|ZBBX_uc003fep.3_Silent_p.F743F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	743	Poly-Glu.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGGTCTTAAGGAAATCTGTGG	0.368000														35			11		0	0	0.000978	0	0
PRDM16	63976	broad.mit.edu	37	1	3319466	3319466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:3319466G>A	uc001akf.3	+	5	870	c.788G>A	c.(787-789)gGc>gAc	p.G263D	PRDM16_uc001ake.3_Missense_Mutation_p.G263D|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.G263D	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	263					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTCTACGAGGGCCTGGCTGAG	0.632000			T	EVI1	"""MDS, AML"""									7			65		0	0	0.003610	0	0
GPR112	139378	broad.mit.edu	37	X	135482252	135482252	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135482252T>C	uc004ezu.1	+	20	8843	c.8552T>C	c.(8551-8553)cTt>cCt	p.L2851P	GPR112_uc010nsb.1_Missense_Mutation_p.L2646P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2851					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTATATCCTTAAATTTTGT	0.353000														44			16		0	0	0.003163	0	0
HERC2	8924	broad.mit.edu	37	15	28501248	28501248	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:28501248G>A	uc001zbj.3	-	17	2839	c.2733C>T	c.(2731-2733)ctC>ctT	p.L911L	HERC2_uc001zbl.1_Silent_p.L606L	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	911					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCAGGGCAGGAGAGCAGAGA	0.657000														66			16		0	0	0.004007	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957575	52957575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:52957575C>T	uc001wzs.3	-	9	1354	c.905G>A	c.(904-906)gGa>gAa	p.G302E	TXNDC16_uc010tqu.2_Missense_Mutation_p.G297E|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	302					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GAGTAGAACTCCTGCTTTTCC	0.363000														38			9		0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196834754	196834754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:196834754G>A	uc002utj.4	-	16	2224	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	708	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCCAAATGAATAAAATTC	0.328000														16			11		0	0	0.001368	0	0
MDFI	4188	broad.mit.edu	37	6	41617375	41617375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:41617375C>T	uc003oqq.4	+	3	485	c.278C>T	c.(277-279)cCc>cTc	p.P93L	MDFI_uc010jxn.3_Missense_Mutation_p.P93L	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	93					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CAGGGGAACCCCTTGGGCTGC	0.647000														103			157		0	0	0.003610	0	0
DMD	1756	broad.mit.edu	37	X	32472782	32472782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:32472782C>T	uc004dda.1	-	25	3844	c.3600G>A	c.(3598-3600)atG>atA	p.M1200I	DMD_uc004dcz.2_Missense_Mutation_p.M1077I|DMD_uc004dcy.1_Missense_Mutation_p.M1196I|DMD_uc004ddb.1_Missense_Mutation_p.M1192I|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1200					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				tttttACCTTCATCTCTTCAA	0.318000														2			5		0	0	0.000602	0	0
TNS3	64759	broad.mit.edu	37	7	47408095	47408095	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:47408095G>A	uc003tnw.3	-	16	2506	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	TNS3_uc022acn.1_Silent_p.I273I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	716						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGTGGGTAGGGATGGGCTCGA	0.652000														188			69		0	0	0.003610	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122504	46122504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:46122504G>A	uc001jcp.4	-	6	1009	c.767C>T	c.(766-768)cCt>cTt	p.P256L	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.P256L|ZFAND4_uc009xmu.3_Missense_Mutation_p.P182L|ZFAND4_uc001jcn.4_Missense_Mutation_p.P182L|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	256							zinc ion binding										ACCACTAGAAGGTCGAGGAGC	0.468000														21			10		0	0	0.000978	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824023	176824023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:176824023C>T	uc003mgk.4	+	11	1468	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	455					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACCACGGCCATCCTGGCT	0.647000														20			35		0	0	0.002836	0	0
BDKRB1	623	broad.mit.edu	37	14	96731052	96731052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:96731052G>A	uc021sbj.1	+	0	1033	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	BDKRB1_uc001yfh.3_Missense_Mutation_p.E345K	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	345					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCATAGGAAAGAAATCTTCCA	0.393000														173			141		0	0	0.003610	0	0
AGAP1	116987	broad.mit.edu	37	2	237032730	237032730	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:237032730G>A	uc002vvs.3	+	17	3136	c.2538G>A	c.(2536-2538)cgG>cgA	p.R846R	AGAP1_uc002vvt.3_Silent_p.R793R	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	846					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACAATAACCGGAACAACAGCA	0.647000														32			23		0	0	0.003330	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034921	107034921	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:107034921G>A	uc001ysz.3	-	1	188	c.159C>T	c.(157-159)atC>atT	p.I53I	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		GCACCCAGCCGATCCAGTAGC	0.572000														5			8		0	0	0.006214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348014	140348014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140348014G>A	uc003lii.3	+	0	2268	c.1663G>A	c.(1663-1665)Ggg>Agg	p.G555R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.G555R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	555	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGACAAGGGGAGCCCACC	0.512000														75			23		0	0	0.004656	0	0
TRIM67	440730	broad.mit.edu	37	1	231342409	231342409	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:231342409C>T	uc009xfn.1	+	6	1734	c.1692C>T	c.(1690-1692)gtC>gtT	p.V564V		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	564	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				AAGTGTACGTCGGTAAGGAGA	0.478000														27			11		0	0	0.001368	0	0
PDZRN4	29951	broad.mit.edu	37	12	41587911	41587911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:41587911G>A	uc010skn.2	+	2	772	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	255	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCGACTGAAGGAATTTACGTT	0.318000														19			24		0	0	0.004656	0	0
ULBP1	80329	broad.mit.edu	37	6	150289957	150289957	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:150289957C>T	uc003qnp.3	+	1	343	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	100	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|endoplasmic reticulum	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TGGTGGATTTCCTTAAAGGGC	0.418000														31			31		0	0	0.002445	0	0
ALPK3	57538	broad.mit.edu	37	15	85370798	85370798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:85370798C>T	uc002ble.3	+	2	1039	c.872C>T	c.(871-873)tCc>tTc	p.S291F		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	291	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGTCTGTGTCCGAGGACAGC	0.577000														39			13		0	0	0.003163	0	0
MANBA	4126	broad.mit.edu	37	4	103585980	103585980	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:103585980G>A	uc003hwg.3	-	10	1447	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	MANBA_uc011ces.2_Silent_p.I392I	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	449					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TCCATATGATGATAGAAGGAT	0.333000														36			22		0	0	0.003954	0	0
C14orf93	60686	broad.mit.edu	37	14	23465426	23465426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:23465426G>A	uc001wib.2	-	2	959	c.649C>T	c.(649-651)Cct>Tct	p.P217S	C14orf93_uc001wic.2_Missense_Mutation_p.P37S|C14orf93_uc001wig.3_Missense_Mutation_p.P217S|C14orf93_uc001wih.3_Missense_Mutation_p.P217S|C14orf93_uc001wie.3_Missense_Mutation_p.P217S|C14orf93_uc001wia.4_Missense_Mutation_p.P217S|C14orf93_uc001wif.3_Missense_Mutation_p.P37S	NM_021944	NP_068763	Q9H972	CN093_HUMAN	Homo sapiens chromosome 14 open reading frame 93 (C14orf93), transcript variant 1, mRNA.	217						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCATAAGCAGGGACCAGAACT	0.532000														58			50		0	0	0.003610	0	0
PEX16	9409	broad.mit.edu	37	11	45937061	45937061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:45937061G>A	uc001nbt.3	-	4	730	c.418C>T	c.(418-420)Cct>Tct	p.P140S	PEX16_uc001nbu.3_Missense_Mutation_p.P140S	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	140					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GGAACGATAGGGGGTGAAGTC	0.612000														62			23		0	0	0.004656	0	0
LRP1	4035	broad.mit.edu	37	12	57579374	57579374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:57579374G>A	uc001snd.3	+	40	6990	c.6524G>A	c.(6523-6525)cGt>cAt	p.R2175H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2175	EGF-like 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R2175H(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TACCGGGGCCGTGGGCAGCGG	0.692000														18			27		0	0	0.007291	0	0
TSIX	9383	broad.mit.edu	37	X	73046878	73046878	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:73046878C>T	uc004ebn.2	+	0		c.34839C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CATGGGCTTTCCATCTTAGTC	0.493000														20			10		0	0	0.000978	0	0
TEX13A	56157	broad.mit.edu	37	X	104464309	104464309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:104464309C>T	uc004ema.3	-	2	681	c.569G>A	c.(568-570)gGa>gAa	p.G190E	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.G190E	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	190						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCTCCTTTTCCTCCAGCAGC	0.657000														24			9		0	0	0.006214	0	0
IRGC	56269	broad.mit.edu	37	19	44223547	44223547	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:44223547C>T	uc002oxh.3	+	1	984	c.837C>T	c.(835-837)gcC>gcT	p.A279A	IRGC_uc021uvh.1_Silent_p.A279A	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	279						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCATCCAGGCCCTGCCGGTCC	0.632000														37			69		0	0	0.003610	0	0
DDR1	780	broad.mit.edu	37	6	30857132	30857132	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:30857132C>T	uc003nrv.3	+	2	384	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DDR1_uc010jse.3_Silent_p.F114F|DDR1_uc003nrq.3_Silent_p.F114F|DDR1_uc003nrr.3_Silent_p.F114F|DDR1_uc003nrs.3_Silent_p.F114F|DDR1_uc003nrt.3_Silent_p.F114F|DDR1_uc011dms.2_Silent_p.F132F|DDR1_uc011dmt.2_Silent_p.F140F|DDR1_uc003nru.3_Silent_p.F114F|DDR1_uc011dmu.1_Silent_p.F114F|DDR1_uc003nry.2_Silent_p.F114F|DDR1_uc003nrx.2_Silent_p.F114F|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	114	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GCAAGGAGTTCTCCCGGAGCT	0.667000														15			30		0	0	0.001512	0	0
RTN1	6252	broad.mit.edu	37	14	60212976	60212976	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60212976C>T	uc001xen.1	-	1	674	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	155					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GAGACTCTATCCCAGGCACAT	0.498000														15			5		0	0	0.000602	0	0
CCDC9	26093	broad.mit.edu	37	19	47763960	47763960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:47763960C>T	uc010xym.2	+	4	533	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	109	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCGAGCATCGCGCAGCTGG	0.761000														13			5		0	0	0.001168	0	0
COL5A3	50509	broad.mit.edu	37	19	10116264	10116264	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:10116264C>T	uc002mmq.1	-	3	650	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	188	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTCCTGGGTCCCCAGCACAG	0.557000														67			16		0	0	0.001882	0	0
BEND3	57673	broad.mit.edu	37	6	107391813	107391813	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:107391813G>A	uc003prs.2	-	4	1232	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	194										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TCTGGATCAGGAAGTAGATGT	0.587000														2			34		0	0	0.003755	0	0
RP1L1	94137	broad.mit.edu	37	8	10464762	10464762	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:10464762G>A	uc003wtc.3	-	3	7075	c.6846C>T	c.(6844-6846)tcC>tcT	p.S2282S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2282					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCACCTGGGGAAGGGGGTG	0.597000														148			143		0	0	0.003610	0	0
ZNF419	79744	broad.mit.edu	37	19	58002917	58002917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:58002917C>T	uc010ety.1	+	2	394	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	ZNF419_uc002qov.2_Missense_Mutation_p.L51F|ZNF419_uc010etz.1_Missense_Mutation_p.L39F|ZNF419_uc002qow.2_Missense_Mutation_p.L52F|ZNF419_uc010eua.1_Missense_Mutation_p.L38F|ZNF419_uc010eub.1_Missense_Mutation_p.L39F|ZNF419_uc010euc.1_Missense_Mutation_p.L38F	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCAGAGGCTCCTCTACCGCAA	0.532000														58			31		0	0	0.001786	0	0
CDC5L	988	broad.mit.edu	37	6	44392179	44392179	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:44392179C>T	uc003oxl.3	+	10	1738	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	476	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGAACATCTCCGTTTAGGGT	0.388000														12			14		0	0	0.003163	0	0
MICALCL	84953	broad.mit.edu	37	11	12379943	12379943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:12379943G>A	uc001mkg.1	+	8	2296	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	669					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTCCTTAGAGGAACAACGCAT	0.493000														25			56		0	0	0.003610	0	0
KCNT1	57582	broad.mit.edu	37	9	138657536	138657536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138657536C>T	uc011mdq.2	+	12	1341	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	KCNT1_uc011mdr.2_Missense_Mutation_p.P250S|KCNT1_uc010nbf.3_Missense_Mutation_p.P378S|KCNT1_uc004cgo.1_Missense_Mutation_p.P172S	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	423						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGCAGATCCCTCTGTGGTC	0.632000														20			13		0	0	0.001855	0	0
CD300LB	124599	broad.mit.edu	37	17	72522185	72522185	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:72522185C>T	uc002jkx.2	-	1	196	c.183G>A	c.(181-183)gtG>gtA	p.V61V	CD300LB_uc010wqz.1_Silent_p.V61V	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	24	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CTGGGGCTCTCACAGACTCTG	0.567000														58			35		0	0	0.005524	0	0
ZNF500	26048	broad.mit.edu	37	16	4812659	4812659	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:4812659C>A	uc002cxp.1	-	2	760	c.513G>T	c.(511-513)gaG>gaT	p.E171D	ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Missense_Mutation_p.E171D	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAGCCTCTTCCTCCAGGGACA	0.622000														67			35		3.11337e-16	5.94986e-16	0.002836	1	0
FAM47A	158724	broad.mit.edu	37	X	34148451	34148451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:34148451C>T	uc004ddg.3	-	0	1997	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	649								p.E649*(2)		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						GAGGAACACTCCTTTACTTTC	0.453000														51			61		0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7531810	7531810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7531810C>T	uc010sge.2	-	8	2191	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	CD163L1_uc001qsy.3_Missense_Mutation_p.G712E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	712	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACACAGAATTCCCACGGCACC	0.502000														18			25		0	0	0.003330	0	0
BAHCC1	57597	broad.mit.edu	37	17	79405439	79405439	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79405439C>T	uc002kaf.2	+	2	216	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	134				SSRLMGSSPASSFMGSFLTSSLGSAASTHPSGPSSSPPEQA YRGSHPTTSQIWFSHSHEA -> CWRLQGNPAAVLCVSPFI TSWLGNNRKWHFSGGRSLPFQPAVTCAGPSPFLGYYSLSQP P (in Ref. 1; AC110285).			DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CATCCACCTTCCTACCCGTGA	0.577000														13			9		0	0	0.000673	0	0
ATP10B	23120	broad.mit.edu	37	5	160115067	160115067	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:160115067C>T	uc003lym.1	-	4	862	c.15G>A	c.(13-15)gtG>gtA	p.V5V	ATP10B_uc003lyp.2_Silent_p.V5V|ATP10B_uc011deg.1_Silent_p.V49V|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	5					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGATGAGTCCACTGAGAGGG	0.532000														14			9		0	0	0.006214	0	0
GABRG3	2567	broad.mit.edu	37	15	27725843	27725843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:27725843G>A	uc001zbg.2	+	5	876	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	GABRG3_uc001zbf.3_Missense_Mutation_p.V208M	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	208					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAAAAATTCAGTGGAGGCAGC	0.393000														11			5		0	0	0.000602	0	0
MGA	23269	broad.mit.edu	37	15	41988789	41988789	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:41988789A>T	uc010ucy.2	+	2	1762	c.1581A>T	c.(1579-1581)gaA>gaT	p.E527D	MGA_uc001zog.1_Missense_Mutation_p.E527D|MGA_uc010ucz.2_Missense_Mutation_p.E527D	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	527						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGAATCAGAAAATGGTCTTA	0.373000														29			28		0	0	0.007291	0	0
OR4M1	441670	broad.mit.edu	37	14	20249310	20249310	+	Missense_Mutation	SNP	C	T	T	rs3968186		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20249310C>T	uc010tku.2	+	0	829	c.829C>T	c.(829-831)Cat>Tat	p.H277Y		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTGTGTTTCATACTGTAAT	0.388000														55			19		0	0	0.001216	0	0
RSAD1	55316	broad.mit.edu	37	17	48559708	48559709	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48559708_48559709CC>TT	uc002iqw.1	+	3	787_788	c.731_732CC>TT	c.(730-732)gcc>gTT	p.A244V	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	244					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGCGGGGTGCCCTTCCAGCCC	0.649000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			61		0	0	0.004672	0	0
IGSF10	285313	broad.mit.edu	37	3	151154752	151154752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151154752G>A	uc011bod.2	-	5	7597	c.7597C>T	c.(7597-7599)Cgt>Tgt	p.R2533C	IGSF10_uc011bob.2_Missense_Mutation_p.R560C|IGSF10_uc011boc.2_Missense_Mutation_p.R512C	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2533	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGGTGGACGATTTGTAATT	0.483000														60			26		0	0	0.004656	0	0
GDPD2	54857	broad.mit.edu	37	X	69652228	69652229	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:69652228_69652229GG>AA	uc011mpk.2	+	13	1893_1894	c.1532_1533GG>AA	c.(1531-1533)tgg>tAA	p.W511*	GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Nonsense_Mutation_p.W460*|GDPD2_uc011mpl.2_Nonsense_Mutation_p.W381*|GDPD2_uc011mpm.2_Nonsense_Mutation_p.W381*	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	460					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TCTCTGCTTTGGTGTGCAGGGG	0.510000														118			56		0	0	0.004672	0	0
C1orf168	199920	broad.mit.edu	37	1	57221595	57221595	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:57221595C>T	uc001cym.4	-	6	1510	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	368								p.G368E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAAAATTCTTCCCAGGCTGAA	0.383000														9			4		0	0	0.001168	0	0
CNGA4	1262	broad.mit.edu	37	11	6260614	6260614	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6260614G>A	uc001mco.3	+	2	178	c.63_splice	c.e2-1	p.R21_splice	CNGA4_uc010raa.2_Splice_Site|CNGA4_uc001mcn.3_Splice_Site	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	21					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTTACAGGAAGTTGCTGC	0.483000														199			71		0	0	0.003610	0	0
NEMF	9147	broad.mit.edu	37	14	50298783	50298783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:50298783C>T	uc010anj.1	-	9	936	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	NEMF_uc001wxc.3_Missense_Mutation_p.E290K|NEMF_uc010tqi.2_Missense_Mutation_p.E290K|NEMF_uc001wxe.2_Missense_Mutation_p.E248K|NEMF_uc001wxd.1_5'UTR|NEMF_uc010anq.1_Missense_Mutation_p.E61K	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	290						cytoplasm|nucleus		p.F289L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TCAAATGATTCAAATTCTATA	0.323000														11			17		0	0	0.007413	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305459	99305459	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:99305459G>A	uc003uru.3	-	11	1495	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S	ZNF498_uc003urn.3_Non-coding_Transcript|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	464					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAGGTTTGAAGGAGAAGTTCT	0.348000														11			10		0	0	0.001368	0	0
GPKOW	27238	broad.mit.edu	37	X	48974083	48974083	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48974083G>A	uc004dmr.3	-	4	655	c.648C>T	c.(646-648)acC>acT	p.T216T		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	216						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GGCCAGTGGGGGTCAAGGCCT	0.607000														26			7		0	0	0.001984	0	0
OR4F15	390649	broad.mit.edu	37	15	102358667	102358668	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:102358667_102358668CC>TT	uc010uts.2	+	0	278_279	c.278_279CC>TT	c.(277-279)tcc>tTT	p.S93F		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AAGGCCATCTCCTTTCGGGGAT	0.441000														21			17		0	0	0.004672	0	0
SLC52A3	113278	broad.mit.edu	37	20	742357	742357	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:742357C>T	uc002wed.4	-	3	1524	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	SLC52A3_uc002wee.2_Silent_p.G395G	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	395					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TGAGGACTTCCCCACCCCAGT	0.672000														39			15		0	0	0.004007	0	0
NPR2	4882	broad.mit.edu	37	9	35793935	35793935	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:35793935C>T	uc003zyd.3	+	1	708	c.708C>T	c.(706-708)atC>atT	p.I236I	NPR2_uc010mlb.3_Silent_p.I236I	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	236					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.E235D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGCATGAGATCCTGCTTCAGG	0.552000														42			39		0	0	0.003610	0	0
PIWIL3	440822	broad.mit.edu	37	22	25151811	25151811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:25151811G>A	uc003abd.1	-	5	1049	c.632C>T	c.(631-633)tCc>tTc	p.S211F	PIWIL3_uc011ajx.1_Missense_Mutation_p.S102F|PIWIL3_uc010gut.1_Missense_Mutation_p.S211F|PIWIL3_uc011ajy.1_Missense_Mutation_p.S102F	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	211					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAGTTCTTTGGAAAACTCAAC	0.383000														59			80		0	0	0.003610	0	0
OR4N5	390437	broad.mit.edu	37	14	20612223	20612223	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20612223G>T	uc010tla.2	+	0	329	c.329G>T	c.(328-330)gGa>gTa	p.G110V		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A109A(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTTGGAGCGGGAGAGATGTTC	0.493000														11			10		1.58986e-06	3.01111e-06	0.000673	1	0
ABHD12	26090	broad.mit.edu	37	20	25300863	25300863	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:25300863G>A	uc002wuq.3	-	3	793	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	ABHD12_uc002wus.2_Silent_p.L172L	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.	172						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TGCAGGTACAGAATGATAGGG	0.577000														47			9		0	0	0.006214	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444585	138444585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138444585G>A	uc003vuf.3	-	6	789	c.551C>T	c.(550-552)tCc>tTc	p.S184F	ATP6V0A4_uc003vug.3_Missense_Mutation_p.S184F|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.S184F	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	184					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCGCTCAAAGGAAGCCATCCT	0.547000														45			12		0	0	0.001855	0	0
MECOM	2122	broad.mit.edu	37	3	168834376	168834376	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:168834376C>T	uc011bpj.1	-	7	1687	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	MECOM_uc010hwk.1_Silent_p.E263E|MECOM_uc003ffj.3_Silent_p.E305E|MECOM_uc003ffi.3_Silent_p.E240E|MECOM_uc011bpi.1_Silent_p.E241E|MECOM_uc003ffn.3_Silent_p.E240E|MECOM_uc003ffk.2_Silent_p.E240E|MECOM_uc003ffl.2_Silent_p.E400E|MECOM_uc011bpk.1_Silent_p.E240E|MECOM_uc010hwn.2_Silent_p.E428E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.G428V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTTCTTGCCCTCACAAAACC	0.448000														52			15		0	0	0.007413	0	0
MYH2	4620	broad.mit.edu	37	17	10427136	10427136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:10427136C>T	uc010coi.3	-	35	5369	c.5241G>A	c.(5239-5241)atG>atA	p.M1747I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M1747I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1747					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAATGTCCTCCATCTCTCCTT	0.433000														35			18		0	0	0.006122	0	0
ECHDC2	55268	broad.mit.edu	37	1	53372264	53372264	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:53372264G>A	uc001cup.4	-	4	630	c.384C>T	c.(382-384)acC>acT	p.T128T	ECHDC2_uc001cun.3_Intron|ECHDC2_uc001cuo.4_Intron|ECHDC2_uc021onl.1_Intron|ECHDC2_uc010onk.2_Silent_p.T82T|ECHDC2_uc010onl.1_Silent_p.T82T|ECHDC2_uc010onm.1_Silent_p.T82T|ECHDC2_uc010onn.1_Silent_p.T82T	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.	128					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TAGCCGCAATGGTGGGTGCAG	0.647000														11			4		0	0	0.000248	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701746	96701746	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:96701746C>T	uc001kka.4	+	1	325	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CYP2C9_uc009xut.3_Silent_p.F100F|CYP2C9_uc001kjz.3_Silent_p.F100F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	100					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAGGCATTTTCCCACTGGCTG	0.478000														4			4		0	0	0.001168	0	0
MCTP2	55784	broad.mit.edu	37	15	95013640	95013640	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:95013640C>T	uc002btj.3	+	19	2504	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	MCTP2_uc010boj.3_Silent_p.F542F|MCTP2_uc010bok.3_Silent_p.F758F|MCTP2_uc002btl.3_Silent_p.F401F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	813					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.F813V(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTTGTATTTCATTCCACTGC	0.403000														30			15		0	0	0.004990	0	0
SSRP1	6749	broad.mit.edu	37	11	57097589	57097589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57097589C>T	uc001njt.3	-	11	1726	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	487	Asp/Glu-rich (acidic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTTCCTCCTCTTCACCTGGG	0.517000														92			49		0	0	0.003610	0	0
ZNF835	90485	broad.mit.edu	37	19	57175856	57175856	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57175856C>T	uc010ygn.2	-	1	938	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGCTCTATCAGGGACGAGC	0.701000														19			12		0	0	0.001855	0	0
PLBD1	79887	broad.mit.edu	37	12	14695143	14695143	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:14695143C>T	uc001rcc.1	-	3	580	c.419_splice	c.e3+1	p.E140_splice		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	140					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TATACGTACTCCATAAAATCC	0.353000														37			13		0	0	0.001855	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140810530	140810530	+	Silent	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140810530C>A	uc003lkt.2	+	0	373	c.204C>A	c.(202-204)ccC>ccA	p.P68P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.P68P	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	68	Cadherin 1.				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)			GCATCATCCCCAGAGGTAGGA	0.657000														49			61		5.5144e-22	1.05613e-21	0.003610	1	0
ZC3HC1	51530	broad.mit.edu	37	7	129658533	129658533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:129658533G>A	uc003vpi.3	-	9	1507	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	ZC3HC1_uc010lma.3_Missense_Mutation_p.R310W	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	494					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	p.R494W(2)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCCCACTGCCGAAATATTCGG	0.398000														87			89		0	0	0.003610	0	0
FBLN5	10516	broad.mit.edu	37	14	92349413	92349413	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:92349413G>C	uc010aue.3	-	8	1343	c.870C>G	c.(868-870)gaC>gaG	p.D290E	FBLN5_uc010aud.3_Missense_Mutation_p.D254E|FBLN5_uc001xzx.4_Missense_Mutation_p.D249E	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	249	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.D249D(1)|p.D249E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGCTGCACTCGTCCATATCTG	0.532000														36			39		0	0	0.002852	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602369	48602369	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48602369G>A	uc010wmr.2	+	12	2058	c.1896G>A	c.(1894-1896)cgG>cgA	p.R632R	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	595					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACTTGTTCCGGCACAGAAATC	0.652000														70			30		0	0	0.002836	0	0
AKAP17A	8227	broad.mit.edu	37	X	1713000	1713000	+	Silent	SNP	C	T	T	rs138420977		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:1713000C>T	uc004cqa.3	+	1	841	c.645C>T	c.(643-645)ttC>ttT	p.F215F	AKAP17A_uc010ncx.1_Silent_p.F215F|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	215	RRM.				B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACTTGAACTTCGAGGCCTATG	0.612000														127			52		0	0	0.003610	0	0
SSTR2	6752	broad.mit.edu	37	17	71165805	71165806	+	Missense_Mutation	DNP	GG	AA	AA	rs144660860		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:71165805_71165806GG>AA	uc002jje.3	+	1	707_708	c.347_348GG>AA	c.(346-348)cgg>cAA	p.R116Q	SSTR2_uc021ucm.1_Missense_Mutation_p.R116Q	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	116					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCATTTGCCGGGTGGTCATGA	0.559000														29			35		0	0	0.004672	0	0
EFHC1	114327	broad.mit.edu	37	6	52343840	52343840	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:52343840C>T	uc003pap.4	+	7	1499	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	EFHC1_uc011dwv.1_Silent_p.S337S|EFHC1_uc011dww.2_Silent_p.S409S	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	428	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGTAGGAATCCCCCATCCCAG	0.423000														10			8		0	0	0.004482	0	0
CLCN1	1180	broad.mit.edu	37	7	143036616	143036616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143036616G>A	uc003wcr.1	+	13	1571	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	CLCN1_uc011ktc.1_Missense_Mutation_p.G107E	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	495					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.G495K(2)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCTGCATTTGGAAGGCTGGTA	0.443000														69			19		0	0	0.001882	0	0
BCMO1	53630	broad.mit.edu	37	16	81303980	81303980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:81303980C>T	uc002fgn.1	+	6	1278	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	BCMO1_uc010vnp.1_Missense_Mutation_p.P285S	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	354					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CACCTCGGTCCCCACCCTCAG	0.562000														51			20		0	0	0.002299	0	0
ODZ1	10178	broad.mit.edu	37	X	123838892	123838892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:123838892G>A	uc010nqy.3	-	4	1050	c.986C>T	c.(985-987)aCt>aTt	p.T329I	ODZ1_uc011muj.2_Missense_Mutation_p.T329I|ODZ1_uc004euj.3_Missense_Mutation_p.T329I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	329					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAAGGCCAAAGTCACTGTGAT	0.463000														21			24		0	0	0.002780	0	0
SHROOM2	357	broad.mit.edu	37	X	9907268	9907268	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:9907268C>T	uc004csu.1	+	7	4263	c.4173C>T	c.(4171-4173)tcC>tcT	p.S1391S	SHROOM2_uc004csv.2_Silent_p.S226S|SHROOM2_uc011mic.1_Silent_p.S226S|SHROOM2_uc004csw.1_Silent_p.S226S	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1391	ASD2.				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)				CGGCCGTGTCCCTGGCCACCA	0.607000														19			6		0	0	0.001984	0	0
ZNF236	7776	broad.mit.edu	37	18	74593298	74593298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:74593298C>T	uc002lmi.3	+	8	1439	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.S414F	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	414					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTAATGACTCCTGCCATGCC	0.478000														66			27		0	0	0.002096	0	0
GAD1	2571	broad.mit.edu	37	2	171702532	171702533	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:171702532_171702533CC>TT	uc002ugi.3	+	9	1383_1384	c.961_962CC>TT	c.(961-963)cca>TTa	p.P321L		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	321					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAAAATAATTCCAGCTGATTTT	0.361000														33			10		0	0	0.004672	0	0
ACSM5	54988	broad.mit.edu	37	16	20442540	20442540	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:20442540A>G	uc002dhe.3	+	10	1354	c.1207_splice	c.e10-2	p.I403_splice		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	403					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTTCCTTACCAGATTGTGGAT	0.552000														32			18		0	0	0.007413	0	0
RPTOR	57521	broad.mit.edu	37	17	78704442	78704442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:78704442C>T	uc002jyt.1	+	4	1395	c.590C>T	c.(589-591)tCc>tTc	p.S197F	RPTOR_uc002jys.3_Missense_Mutation_p.S197F|RPTOR_uc010wuf.1_Missense_Mutation_p.S12F|RPTOR_uc010wug.1_Missense_Mutation_p.S197F	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	197					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TACGACTGCTCCAATGCTGGC	0.547000														72			40		0	0	0.006230	0	0
ESPNL	339768	broad.mit.edu	37	2	239025581	239025581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:239025581C>T	uc002vxq.4	+	4	1003	c.893C>T	c.(892-894)tCc>tTc	p.S298F	ESPNL_uc010fyw.3_Intron	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	298										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTGGACCCCTCCCTGCGGGAT	0.652000														19			36		0	0	0.004878	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090224	238090224	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:238090224C>T	uc010pyc.2	+	11		c.1730C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		AGCTGTGTTTCCCTCCATCAT	0.597000														5			4		0	0	0.000248	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110049	37110049	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:37110049C>T	uc001zjg.4	-	0		c.659G>A								Homo sapiens casein kinase 1, alpha 1 pseudogene 1 (CSNK1A1P1), non-coding RNA.																		AATTGGTCTTCGAGGCTAGGT	0.408000														29			6		0	0	0.001984	0	0
OR6N2	81442	broad.mit.edu	37	1	158746892	158746892	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:158746892G>A	uc010pir.2	-	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GAAAGTCACAGAAAATGTGTT	0.448000														38			21		0	0	0.001882	0	0
RP1	6101	broad.mit.edu	37	8	55534689	55534689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55534689C>T	uc003xsd.1	+	2	776	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	RP1_uc011ldy.1_Nonsense_Mutation_p.Q210*	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	210	Doublecortin 2.				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	p.L209R(1)		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)			TCCCAGCCTCCAGGCAGTGAT	0.423000														78			28		0	0	0.002445	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741041	146741041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:146741041G>A	uc003weu.2	+	3	961	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	149	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.H148H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCGGCACGAATTACAGCA	0.423000										HNSCC(39;0.1)				31			11		0	0	0.000673	0	0
DHX9	1660	broad.mit.edu	37	1	182823237	182823237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:182823237C>T	uc001gpr.3	+	5	725	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	DHX9_uc001gps.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	184	DRBM 2.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGCTAAAGCTCGTCTAAACCA	0.368000														58			17		0	0	0.004007	0	0
CR1	1378	broad.mit.edu	37	1	207700143	207700143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:207700143G>A	uc001hfy.3	+	5	1072	c.932G>A	c.(931-933)aGg>aAg	p.R311K	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.R311K|CR1_uc021pij.1_Missense_Mutation_p.R311K|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.R311K	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	311	Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGTACCCAAAGGGACAAGGAC	0.527000														83			27		0	0	0.002445	0	0
MUC5B	727897	broad.mit.edu	37	11	1281225	1281225	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1281225C>A	uc001lta.3	+	45	16892	c.16833C>A	c.(16831-16833)gaC>gaA	p.D5611E		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5611					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCATGTGGACAACTGCACCG	0.567000														43			113		5.99808e-64	1.15378e-63	0.003610	1	0
FAM9A	171482	broad.mit.edu	37	X	8766190	8766190	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:8766190C>T	uc022bsk.1	-	5	509	c.373_splice	c.e5+1	p.A125_splice	FAM9A_uc004csg.3_Splice_Site_p.A125_splice	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	125						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTAAAACATACCTGCAATATG	0.318000														24			7		0	0	0.003080	0	0
SLC33A1	9197	broad.mit.edu	37	3	155547507	155547508	+	Missense_Mutation	DNP	GT	AA	AA	rs144015992	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:155547507_155547508GT>AA	uc003fan.4	-	4	1913_1914	c.1451_1452AC>TT	c.(1450-1452)aac>aTT	p.N484I	SLC33A1_uc003fao.2_Missense_Mutation_p.N484I|SLC33A1_uc003fap.1_Non-coding_Transcript	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	484					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACAATTCTGGTTTGATGCTCC	0.371000														38			25		0	0	0.004672	0	0
LAMP1	3916	broad.mit.edu	37	13	113965172	113965172	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113965172C>T	uc001vtm.1	+	3	833	c.552C>T	c.(550-552)ttC>ttT	p.F184F	LAMP1_uc010tka.1_Intron	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	184	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACAGCAGCTTCAGCCGGGGAG	0.577000														25			36		0	0	0.007835	0	0
ENC1	8507	broad.mit.edu	37	5	73931100	73931100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:73931100G>A	uc003kdc.4	-	1	2342	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L	ENC1_uc011css.2_Missense_Mutation_p.P331L|ENC1_uc021yao.1_Missense_Mutation_p.P404L	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	404					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GGGGGAGGCCGGGAGGCAGCC	0.602000														94			33		0	0	0.003755	0	0
C6orf58	352999	broad.mit.edu	37	6	127898428	127898428	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:127898428G>A	uc003qbh.3	+	0	110	c.98G>A	c.(97-99)tGg>tAg	p.W33*		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	33						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCCCCTCTGTGGAAGGAGAGT	0.468000														19			14		0	0	0.001855	0	0
SOBP	55084	broad.mit.edu	37	6	107954763	107954763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:107954763G>A	uc003prx.3	+	5	1219	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	239							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGAATACCTGGATTTTGGGGA	0.408000														29			35		0	0	0.003271	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998300	46998300	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:46998300C>T	uc002pes.2	-	0	870	c.423G>A	c.(421-423)ggG>ggA	p.G141G	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Silent_p.S137S	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	141										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CTGTTACCTCCCCAGAATCCT	0.697000														69			28		0	0	0.002096	0	0
SP1	6667	broad.mit.edu	37	12	53776507	53776507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:53776507C>T	uc001scw.3	+	2	873	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SP1_uc021qyf.1_Missense_Mutation_p.A211V|SP1_uc010sog.2_Missense_Mutation_p.A252V	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	259					positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTACCAGTGGCCCTGAATGGG	0.547000														98			49		0	0	0.003610	0	0
SCN5A	6331	broad.mit.edu	37	3	38592826	38592826	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38592826G>A	uc021wvo.1	-	26	5089	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F	SCN5A_uc021wvk.1_Silent_p.F1646F|SCN5A_uc021wvl.1_Silent_p.F1625F|SCN5A_uc021wvm.1_Silent_p.F1661F|SCN5A_uc021wvn.1_Silent_p.F1678F|SCN5A_uc021wvp.1_Silent_p.F1679F|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.F1491F|SCN5A_uc021wvi.1_Silent_p.F1545F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1679					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.F1679F(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGACATAAGCGAAGTTGGCCA	0.552000														73			109		0	0	0.003610	0	0
CDCA7L	55536	broad.mit.edu	37	7	21945995	21945995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:21945995G>A	uc010kuk.3	-	5	953	c.833C>T	c.(832-834)cCt>cTt	p.P278L	CDCA7L_uc003sve.4_Missense_Mutation_p.P244L|CDCA7L_uc010kul.3_Missense_Mutation_p.P232L|CDCA7L_uc003svf.4_Missense_Mutation_p.P277L	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	278					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AAACTTCTCAGGAGGCCGCGC	0.517000														87			36		0	0	0.006230	0	0
OR2M5	127059	broad.mit.edu	37	1	248309381	248309381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248309381G>A	uc010pze.2	+	0	932	c.932G>A	c.(931-933)gGa>gAa	p.G311E		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G311V(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGCAAGTGTGGAGAGTGAGTA	0.428000														14			13		0	0	0.001368	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384181	8384181	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:8384181G>A	uc010sgk.2	-	4		c.1607C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TGGTGACCTGGGATGAGATGG	0.537000														13			8		0	0	0.000673	0	0
PAPPA	5069	broad.mit.edu	37	9	118982356	118982356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:118982356G>A	uc004bjn.3	+	4	2440	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	PAPPA_uc011lxp.1_Missense_Mutation_p.D382N|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	687					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCACACAACGGACTCTGTGAC	0.567000														21			26		0	0	0.001786	0	0
UTP14A	10813	broad.mit.edu	37	X	129059154	129059154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129059154C>T	uc004euz.3	+	11	1822	c.1732C>T	c.(1732-1734)Ccc>Tcc	p.P578S	UTP14A_uc011mup.2_Missense_Mutation_p.P526S|UTP14A_uc011muq.2_Missense_Mutation_p.P524S	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	578					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTGGCAGTTCCCACAATAGA	0.512000														107			37		0	0	0.001951	0	0
NAALADL2	254827	broad.mit.edu	37	3	175189488	175189489	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:175189488_175189489GG>AA	uc003fit.3	+	8	1682_1683	c.1595_1596GG>AA	c.(1594-1596)agg>aAA	p.R532K	NAALADL2_uc003fiu.1_Missense_Mutation_p.R525K|NAALADL2_uc010hwy.1_Missense_Mutation_p.R306K|NAALADL2_uc010hwz.1_Missense_Mutation_p.R126K	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	532					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGTCCCATAAGGGGGAACTCTA	0.376000														8			7		0	0	0.004672	0	0
LRFN2	57497	broad.mit.edu	37	6	40399740	40399740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:40399740C>T	uc003oph.1	-	1	1578	c.1113G>A	c.(1111-1113)atG>atA	p.M371I		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	371	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGACCTCCACCATGGCCGTGG	0.597000														50			23		0	0	0.002299	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008319	41008319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:41008319G>A	uc002ony.3	+	9	1194	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	SPTBN4_uc002onx.3_Missense_Mutation_p.E370K|SPTBN4_uc002onz.3_Missense_Mutation_p.E370K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	370					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGAACCTAGAGGTGCTGCT	0.612000														42			63		0	0	0.003610	0	0
WNT5A	7474	broad.mit.edu	37	3	55508461	55508461	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:55508461G>A	uc003dhn.3	-	3	906	c.588C>T	c.(586-588)ttC>ttT	p.F196F	WNT5A_uc003dhm.3_Silent_p.F181F|WNT5A_uc010hmw.3_Silent_p.F181F|WNT5A_uc010hmx.3_Silent_p.F107F	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	196					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K195N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GGGCGTCCACGAACTCCTTGG	0.687000														17			5		0	0	0.000602	0	0
SMPD3	55512	broad.mit.edu	37	16	68405008	68405008	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:68405008G>A	uc002ewa.3	-	2	1499	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	SMPD3_uc010cfe.3_Silent_p.F359F|SMPD3_uc010vlh.2_Silent_p.F359F	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	359					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCAGGCACAGGAAGTCCAGGT	0.617000														75			15		0	0	0.004007	0	0
HYDIN	54768	broad.mit.edu	37	16	71218783	71218783	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:71218783T>A	uc002ezr.3	-	2	397	c.246A>T	c.(244-246)gaA>gaT	p.E82D	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E82D|HYDIN_uc010vmc.2_Missense_Mutation_p.E99D|HYDIN_uc010vmd.2_Missense_Mutation_p.E109D|HYDIN_uc002ezw.4_Missense_Mutation_p.E99D	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	82								p.E82K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATGTGTTGTTTCCCCCATAT	0.443000														12			19		0	0	0.003330	0	0
MYO15A	51168	broad.mit.edu	37	17	18027860	18027860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:18027860G>A	uc021trm.1	+	1	3892	c.3673G>A	c.(3673-3675)Gag>Aag	p.E1225K	MYO15A_uc021trl.1_Missense_Mutation_p.E1225K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1225	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGATGGTGTGGAGGACATGAC	0.637000														51			8		0	0	0.004482	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592579	83592579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:83592579G>A	uc003uhz.3	-	15	2117	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	601	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CGCTCTCTGCGACTTCGGACT	0.443000														96			42		0	0	0.006230	0	0
OR13A1	79290	broad.mit.edu	37	10	45799154	45799154	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:45799154G>A	uc001jcc.1	-	3	1026	c.717C>T	c.(715-717)atC>atT	p.I239I	OR13A1_uc001jcd.1_Silent_p.I235I|OR13A1_uc021ppq.1_Silent_p.I239I	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I239I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGCTGGAGACGATGAAGCCAT	0.557000														5			79		0	0	0.003610	0	0
SCUBE2	57758	broad.mit.edu	37	11	9088336	9088336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:9088336C>T	uc001mhi.2	-	5	743	c.668G>A	c.(667-669)gGg>gAg	p.G223E	SCUBE2_uc001mhj.2_Missense_Mutation_p.G223E	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	223	EGF-like 5 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GTGCTGGCACCCACCGTTCCC	0.512000														21			5		0	0	0.001168	0	0
FHL1	2273	broad.mit.edu	37	X	135289325	135289325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135289325G>A	uc004ezo.3	+	3	636	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	FHL1_uc010nrz.2_Missense_Mutation_p.G103R|FHL1_uc004ezq.2_Missense_Mutation_p.G103R|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Missense_Mutation_p.G103R|FHL1_uc011mvy.1_Missense_Mutation_p.G103R|FHL1_uc004ezn.2_Missense_Mutation_p.G103R|FHL1_uc022ceu.1_Missense_Mutation_p.G103R|FHL1_uc011mwa.1_Missense_Mutation_p.G132R|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.G119R|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	103	LIM zinc-binding 2.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAAGTGCAAGGGGTGCTTCAA	0.592000														25			44		0	0	0.003610	0	0
YY2	404281	broad.mit.edu	37	X	21875652	21875652	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:21875652G>A	uc011mjp.2	+	0	1548	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	350	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TTTGCAACAGGAAGTTCGCTC	0.498000														367			119		0	0	0.003610	0	0
CADM3	57863	broad.mit.edu	37	1	159163703	159163703	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:159163703C>T	uc001ftl.2	+	4	743	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Silent_p.F222F	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	188	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTAAAACCTTCACTGTCAGCA	0.502000														45			8		0	0	0.003080	0	0
ABCA12	26154	broad.mit.edu	37	2	215839566	215839566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:215839566C>T	uc002vew.3	-	34	5624	c.5404G>A	c.(5404-5406)Gca>Aca	p.A1802T	ABCA12_uc002vev.3_Missense_Mutation_p.A1484T|ABCA12_uc010zjn.2_Missense_Mutation_p.A729T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1802					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.A1802T(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGACAAGTGCTTCCGTGCTC	0.383000														17			18		0	0	0.007413	0	0
FBLN7	129804	broad.mit.edu	37	2	112942913	112942913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:112942913C>T	uc002tho.1	+	6	1215	c.944C>T	c.(943-945)cCa>cTa	p.P315L	FBLN7_uc010fki.1_Missense_Mutation_p.P269L|FBLN7_uc010fkj.1_Missense_Mutation_p.P181L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	315	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGACGTCTCCATTGTGAGTA	0.587000														48			21		0	0	0.002780	0	0
BMP5	653	broad.mit.edu	37	6	55739256	55739256	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:55739256G>A	uc003pcq.3	-	0	1120	c.408C>T	c.(406-408)acC>acT	p.T136T	BMP5_uc011dxf.2_Silent_p.T136T	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	136					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GACTCTGGGTGGTCAGAGGAG	0.498000														3			8		0	0	0.003080	0	0
CFB	629	broad.mit.edu	37	6	31919014	31919014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31919014G>A	uc003nyj.4	+	14	2227	c.1949G>A	c.(1948-1950)gGg>gAg	p.G650E	CFB_uc011dor.2_Missense_Mutation_p.G1152E	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	650	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATCAAGAATGGGGATAAGGTG	0.512000														106			136		0	0	0.003610	0	0
PRDM1	639	broad.mit.edu	37	6	106553274	106553274	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:106553274C>T	uc003prd.2	+	4	1473	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	PRDM1_uc003pre.3_Silent_p.F279F	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	413					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACCCCAAGTTCCTCTTGCCCC	0.597000			"""D, N, Mis, F, S"""		DLBCL									4			41		0	0	0.006230	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820027	179820027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:179820027G>A	uc001gnl.3	-	4	1320	c.506C>T	c.(505-507)gCa>gTa	p.A169V	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.A169V	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	169						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTTGCCCTGCACTGGAATG	0.562000														53			51		0	0	0.003610	0	0
FBXO47	494188	broad.mit.edu	37	17	37094849	37094849	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:37094849T>A	uc002hrc.2	-	9	1420	c.1220A>T	c.(1219-1221)gAa>gTa	p.E407V		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	407										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TTGCAGCATTTCCATTATAAC	0.393000														132			59		0	0	0.003610	0	0
MN1	4330	broad.mit.edu	37	22	28194969	28194969	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:28194969G>A	uc003adj.3	-	0	2518	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	521							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgcAGGGACTGGTGGT	0.672000			T	ETV6	"""AML, meningioma"""									21			5		0	0	0.001168	0	0
POLM	27434	broad.mit.edu	37	7	44120458	44120458	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:44120458C>G	uc003tjt.3	-	1	338	c.246G>C	c.(244-246)tgG>tgC	p.W82C	POLM_uc003tju.3_Missense_Mutation_p.W82C|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Missense_Mutation_p.W82C|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Missense_Mutation_p.W82C|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Missense_Mutation_p.W82C|POLM_uc010kxy.2_Missense_Mutation_p.W82C	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	82	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TGCGCTCCTGCCAGCTGACGG	0.632000								DNA polymerases (catalytic subunits)						60			45		0	0	0.003610	0	0
MRGPRF	116535	broad.mit.edu	37	11	68773662	68773662	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:68773662G>C	uc001ooo.4	-	2	483	c.116C>G	c.(115-117)gCg>gGg	p.A39G	MRGPRF_uc001oop.4_Missense_Mutation_p.A39G	NM_001098515	NP_659452	Q96AM1	MRGRF_HUMAN	Homo sapiens MAS-related GPR, member F (MRGPRF), transcript variant 1, mRNA.	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGCAGCATCGCGATCTGCTC	0.637000														69			22		0	0	0.004656	0	0
C3orf30	152405	broad.mit.edu	37	3	118866261	118866261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:118866261G>A	uc003ecb.1	+	0	1265	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.E409K	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	409										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCTTCAGTTGAAATGGAAAC	0.458000														26			52		0	0	0.003610	0	0
C19orf59	199675	broad.mit.edu	37	19	7742584	7742584	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:7742584G>A	uc002mhh.1	+	1	181	c.156G>A	c.(154-156)aaG>aaA	p.K52K		NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	Homo sapiens chromosome 19 open reading frame 59 (C19orf59), mRNA.	52						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						ACCATGCAAAGGGTGGTCATT	0.582000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			26		0	0	0.007291	0	0
HDAC6	10013	broad.mit.edu	37	X	48663912	48663912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:48663912C>T	uc011mmi.1	+	4	474	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	HDAC6_uc004dkr.1_Missense_Mutation_p.R127C|HDAC6_uc004dks.1_Missense_Mutation_p.R127C|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.R127C|HDAC6_uc004dku.4_Missense_Mutation_p.R127C|HDAC6_uc011mmj.1_Missense_Mutation_p.R72C|HDAC6_uc011mmk.1_Missense_Mutation_p.R108C	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	127	Histone deacetylase 1.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCTCCTAGATCGCTGCGTGTC	0.602000														25			10		0	0	0.000978	0	0
ABCB5	340273	broad.mit.edu	37	7	20782554	20782554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:20782554C>T	uc010kuh.3	+	24	3316	c.3079C>T	c.(3079-3081)Cgc>Tgc	p.R1027C	ABCB5_uc003suw.4_Missense_Mutation_p.R582C	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	582					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTATCCATGTCGCCCAGATGT	0.468000														28			23		0	0	0.004656	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531420	140531420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140531420C>T	uc003lir.3	+	0	1582	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	528	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGAGTTCCGCGTGGGCGC	0.657000														59			38		0	0	0.001951	0	0
GRM8	2918	broad.mit.edu	37	7	126173078	126173078	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:126173078G>A	uc003vlr.2	-	7	2669	c.2358C>T	c.(2356-2358)acC>acT	p.T786T	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.T786T|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	786					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T786A(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGGTATACATGGTAAATCCAA	0.408000										HNSCC(24;0.065)				16			4		0	0	0.000248	0	0
FAM45A	404636	broad.mit.edu	37	X	129629963	129629963	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129629963A>T	uc010nrh.3	+	0	1049	c.831A>T	c.(829-831)aaA>aaT	p.K277N	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	277										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AACTGCACAAAGAAATGGGTC	0.433000														143			58		0	0	0.003610	0	0
ZNF292	23036	broad.mit.edu	37	6	87970415	87970415	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:87970415T>C	uc003plm.4	+	7	7109	c.7068T>C	c.(7066-7068)ccT>ccC	p.P2356P		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAATAAGCCTTATTCTCTGA	0.353000														12			5		0	0	0.001984	0	0
BRD9	65980	broad.mit.edu	37	5	865567	865567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:865567G>A	uc003jbq.3	-	14	1822	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	BRD9_uc003jbl.3_Missense_Mutation_p.S436F|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.S499F|BRD9_uc003jbo.3_Missense_Mutation_p.S456F	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	552							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GTTGGACAGGGAGCTGAGGTT	0.647000														94			52		0	0	0.003610	0	0
HDAC8	55869	broad.mit.edu	37	X	71710783	71710783	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:71710783G>A	uc004eau.3	-	5	966	c.624C>T	c.(622-624)ttC>ttT	p.F208F	HDAC8_uc011mqe.2_Silent_p.F65F|HDAC8_uc011mqg.2_Silent_p.F117F|HDAC8_uc011mqf.2_Non-coding_Transcript|HDAC8_uc011mqh.2_Silent_p.F155F|HDAC8_uc010nlk.2_Silent_p.F79F|HDAC8_uc004eav.3_Silent_p.F208F|HDAC8_uc022byv.1_Intron	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	208	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	ACTTGCCTGGGAAAAATCCTG	0.383000														3			5		0	0	0.001168	0	0
ROBO4	54538	broad.mit.edu	37	11	124766102	124766102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124766102G>A	uc001qbg.3	-	3	811	c.671C>T	c.(670-672)tCc>tTc	p.S224F	ROBO4_uc010sas.2_Missense_Mutation_p.S79F|ROBO4_uc001qbh.2_Missense_Mutation_p.S114F|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	224	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.S224S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACCCTGGATGGAAACCCGGGC	0.597000														39			15		0	0	0.003163	0	0
ASB2	51676	broad.mit.edu	37	14	94404144	94404144	+	Silent	SNP	G	A	A	rs146138244	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94404144G>A	uc001ycd.3	-	8	2041	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	ASB2_uc001ycb.2_Silent_p.I203I|ASB2_uc001ycc.2_Silent_p.I509I|ASB2_uc001yce.1_Silent_p.I455I	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	509	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGAGGACATCGATGATGGGCC	0.587000														44			11		0	0	0.001855	0	0
COL4A5	1287	broad.mit.edu	37	X	107911600	107911600	+	Missense_Mutation	SNP	C	T	T	rs104886391		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:107911600C>T	uc022ccg.1	+	40	3858	c.3656C>T	c.(3655-3657)cCa>cTa	p.P1219L	COL4A5_uc004enz.1_Missense_Mutation_p.P1219L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1219	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGCCTTCCAGGTCCAAAG	0.517000									Alport syndrome with Diffuse Leiomyomatosis					9			5		0	0	0.001984	0	0
MRPL15	29088	broad.mit.edu	37	8	55049898	55049898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55049898C>T	uc003xsa.2	+	2	397	c.334C>T	c.(334-336)Cct>Tct	p.P112S		NM_014175	NP_054894	Q9P015	RM15_HUMAN	Homo sapiens mitochondrial ribosomal protein L15 (MRPL15), nuclear gene encoding mitochondrial protein, mRNA.	112					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TCGTGTTGATCCTAGTCAACC	0.428000														138			39		0	0	0.004878	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145772559	145772559	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:145772559G>A	uc003zds.1	-	5	2466	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	ARHGAP39_uc011llk.1_Silent_p.S637S|ARHGAP39_uc003zdt.1_Silent_p.S637S	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	637					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGTCTGCACGGAGACGCTCT	0.667000														36			6		0	0	0.004482	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142941	49142941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49142941G>A	uc004dnh.2	+	3	1816	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	PPP1R3F_uc004dni.3_Missense_Mutation_p.E251K|PPP1R3F_uc011mnd.2_Missense_Mutation_p.E268K|PPP1R3F_uc004dnj.2_Missense_Mutation_p.E251K	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	597						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGCCCCAAGGAATCGCCTCC	0.617000														33			25		0	0	0.004656	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949764	44949764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:44949764G>A	uc002zdi.3	-	8	1207	c.875C>T	c.(874-876)tCg>tTg	p.S292L	HSF2BP_uc011aey.2_Missense_Mutation_p.S217L	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	292					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTCAGAGGCCGACTTGGAGAA	0.572000														37			11		0	0	0.002450	0	0
CSMD3	114788	broad.mit.edu	37	8	114326951	114326951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:114326951C>T	uc003ynu.3	-	1	409	c.250G>A	c.(250-252)Gga>Aga	p.G84R	CSMD3_uc003ynt.3_Missense_Mutation_p.G44R|CSMD3_uc011lhx.2_Missense_Mutation_p.G84R|CSMD3_uc010mcx.1_Missense_Mutation_p.G84R|CSMD3_uc003ynx.4_Missense_Mutation_p.G84R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	84	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGGATATCCATATGGAAAA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				260			57		0	0	0.003610	0	0
SELE	6401	broad.mit.edu	37	1	169701978	169701978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:169701978G>A	uc001ggm.4	-	2	356	c.199C>T	c.(199-201)Cca>Tca	p.P67S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	67	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TAATAACTTGGTGAATAGCTC	0.438000														18			17		0	0	0.006122	0	0
PDE9A	5152	broad.mit.edu	37	21	44151975	44151975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:44151975G>A	uc002zbm.3	+	4	421	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	PDE9A_uc002zbn.3_Intron|PDE9A_uc002zbo.3_Intron|PDE9A_uc002zbp.3_5'UTR|PDE9A_uc002zbq.3_Intron|PDE9A_uc002zbs.3_Intron|PDE9A_uc002zbr.3_Intron|PDE9A_uc002zbt.3_Intron|PDE9A_uc002zbu.3_Intron|PDE9A_uc002zbv.3_Intron|PDE9A_uc002zbw.3_Intron|PDE9A_uc002zbx.3_Intron|PDE9A_uc002zby.3_Intron|PDE9A_uc002zbz.3_Intron|PDE9A_uc002zca.3_Missense_Mutation_p.E79K|PDE9A_uc002zcb.3_Missense_Mutation_p.E94K|PDE9A_uc002zcc.3_Intron|PDE9A_uc002zcd.3_Intron|PDE9A_uc002zce.3_Missense_Mutation_p.E53K|PDE9A_uc002zcf.3_5'UTR|PDE9A_uc002zcg.3_Intron	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	120					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCCCGGAGGGAAGGAGCATT	0.622000														92			11		0	0	0.000673	0	0
NPAS1	4861	broad.mit.edu	37	19	47548460	47548460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:47548460C>T	uc002pfw.3	+	11	1520	c.1324C>T	c.(1324-1326)Ccg>Tcg	p.P442S	NPAS1_uc002pfy.3_Missense_Mutation_p.P442S|NPAS1_uc010xyj.2_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	442					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GCCGGAGCCTCCGACGGAAGG	0.637000														28			9		0	0	0.004482	0	0
USP29	57663	broad.mit.edu	37	19	57642615	57642615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57642615G>A	uc002qny.3	+	3	2928	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	USP29_uc021vci.1_Missense_Mutation_p.D858N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	858					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.N857N(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATACAACGATCTATGTGT	0.453000														37			14		0	0	0.003163	0	0
EPHA10	284656	broad.mit.edu	37	1	38227386	38227386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:38227386C>T	uc009vvi.3	-	2	627	c.541G>A	c.(541-543)Gga>Aga	p.G181R	EPHA10_uc001cbw.4_Missense_Mutation_p.G181R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	181						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGAGCGGTCCGATCTCGCGC	0.662000														30			26		0	0	0.007291	0	0
NOVA1	4857	broad.mit.edu	37	14	26917527	26917527	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:26917527G>A	uc001wqa.3	-	5	1582	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	NOVA1_uc001wpy.3_Silent_p.L388L|NOVA1_uc001wpz.3_Silent_p.L364L	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	391					RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCAGCAGCCAGGCTACCTAAT	0.537000														26			15		0	0	0.002450	0	0
CIT	11113	broad.mit.edu	37	12	120166409	120166409	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:120166409G>A	uc001txj.2	-	27	3545	c.3489C>T	c.(3487-3489)ctC>ctT	p.L1163L	CIT_uc001txh.2_Silent_p.L655L|CIT_uc001txi.2_Silent_p.L1121L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1121	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCAGGTCATTGAGCTAGACAT	0.438000														50			70		0	0	0.003610	0	0
IDS	3423	broad.mit.edu	37	X	148568539	148568539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:148568539C>T	uc011mxe.2	-	7	1314	c.1097G>A	c.(1096-1098)aGg>aAg	p.R366K	IDS_uc011mxd.2_Intron|IDS_uc011mxf.2_Missense_Mutation_p.R276K|IDS_uc011mxg.2_Missense_Mutation_p.R155K|IDS_uc010nsu.2_5'UTR|IDS_uc004fcw.4_Missense_Mutation_p.R155K	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	366						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGAAGCCGTCCTTCCAGGAAC	0.478000														22			30		0	0	0.001786	0	0
MFF	56947	broad.mit.edu	37	2	228197204	228197204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228197204C>T	uc002vos.3	+	4	741	c.329C>T	c.(328-330)cCc>cTc	p.P110L	MFF_uc002vot.3_Missense_Mutation_p.P84L|MFF_uc002vow.3_Missense_Mutation_p.P84L|MFF_uc002voy.3_Missense_Mutation_p.P110L|MFF_uc021vxu.1_Missense_Mutation_p.P84L|MFF_uc002voz.3_Missense_Mutation_p.P84L	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	110						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCCTTTAAACCCCTGGCACTG	0.398000														342			191		0	0	0.003610	0	0
PRR23B	389151	broad.mit.edu	37	3	138738914	138738914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:138738914G>A	uc003esy.1	-	0	855	c.590C>T	c.(589-591)cCc>cTc	p.P197L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	197	Pro-rich.							p.P197T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGAGCACAGGGTTCTGGGAT	0.632000														62			29		0	0	0.001512	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255327	110255327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:110255327G>A	uc003ynb.4	-	9	1774	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S	NUDCD1_uc003yna.3_Missense_Mutation_p.P526S|NUDCD1_uc010mcl.3_Missense_Mutation_p.P468S	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	555										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCTAAAATAGGATCATTGGTT	0.368000														35			9		0	0	0.006214	0	0
RASL10B	91608	broad.mit.edu	37	17	34068210	34068210	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:34068210C>T	uc002hju.3	+	3	864	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	166	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTGGCACATCCTGCTGCTCT	0.662000														34			17		0	0	0.004990	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406505	148406505	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:148406505C>T	uc003lpu.3	-	10	2942	c.2790G>A	c.(2788-2790)ctG>ctA	p.L930L	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.L574L|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.L477L|SH3TC2_uc010jgx.3_Silent_p.L923L|SH3TC2_uc003lpv.1_Silent_p.L477L|SH3TC2_uc011dbz.1_Silent_p.L815L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	930							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAGACACCAGAACTTGGG	0.468000														86			130		0	0	0.003610	0	0
ZNF626	199777	broad.mit.edu	37	19	20807869	20807869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:20807869G>A	uc002npb.1	-	3	964	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	ZNF626_uc002npc.1_Missense_Mutation_p.L196F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTTTACTAAGGGTTGAGGAT	0.398000														16			7		0	0	0.003080	0	0
BCOR	54880	broad.mit.edu	37	X	39933240	39933240	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:39933240G>A	uc004den.4	-	3	1651	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	BCOR_uc004dep.4_Silent_p.S453S|BCOR_uc004deo.4_Silent_p.S453S|BCOR_uc004dem.4_Silent_p.S453S|BCOR_uc004deq.4_Silent_p.S453S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	453					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCAGCTTTGGAAGCATCTA	0.502000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							46			55		0	0	0.003610	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509532	149509532	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:149509532C>T	uc003lro.3	-	10	1837	c.1368_splice	c.e10-1	p.R456_splice	PDGFRB_uc010jhd.3_Splice_Site_p.R295_splice	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	456	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTGGACACCTGCCAGGAGA	0.612000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			28		0	0	0.007291	0	0
ANK3	288	broad.mit.edu	37	10	61833570	61833570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:61833570C>T	uc001jky.3	-	36	7407	c.7069G>A	c.(7069-7071)Gaa>Aaa	p.E2357K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2357					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACATACATTTCTTTTTCTGGA	0.393000														8			8		0	0	0.006214	0	0
PCK1	5105	broad.mit.edu	37	20	56139333	56139333	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:56139333T>C	uc002xyn.4	+	6	1233	c.1070T>C	c.(1069-1071)tTt>tCt	p.F357S	PCK1_uc010zzm.2_Missense_Mutation_p.F40S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	357					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AACACAATCTTTACCAATGTG	0.527000														76			39		0	0	0.001951	0	0
CES3	23491	broad.mit.edu	37	16	67006591	67006591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:67006591G>A	uc002eqt.3	+	11	1541	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	CES3_uc010cdz.3_Missense_Mutation_p.E485K|CES3_uc010viw.2_Missense_Mutation_p.E127K	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	488						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGCCACAGAGGAGGAGAAGCA	0.592000														38			24		0	0	0.001512	0	0
MMP3	4314	broad.mit.edu	37	11	102711287	102711287	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:102711287G>A	uc001phj.1	-	4	728	c.663C>T	c.(661-663)ggC>ggT	p.G221G		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	221					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCAGGGAGTGGCCAATTTCAT	0.418000														24			11		0	0	0.000673	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812892	1812892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:1812892C>T	uc010uvl.2	+	15	1903	c.1783C>T	c.(1783-1785)Ccc>Tcc	p.P595S	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.P594S|MAPK8IP3_uc002cml.3_Missense_Mutation_p.P584S|MAPK8IP3_uc021tah.1_Missense_Mutation_p.P588S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	594					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCGCCCCTATCCCTCGGTGAA	0.672000														34			49		0	0	0.003610	0	0
LZTR1	8216	broad.mit.edu	37	22	21340172	21340172	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21340172C>T	uc002zto.3	+	2	409	c.306C>T	c.(304-306)gaC>gaT	p.D102D	LZTR1_uc002ztn.3_Silent_p.D61D|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	102					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATGTGAAAGACTGCTCCTGGT	0.592000														48			10		0	0	0.001368	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150528642	150528643	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:150528642_150528643CC>TT	uc009wlw.3	+	8	1603_1604	c.1445_1446CC>TT	c.(1444-1446)ccc>cTT	p.P482L	ADAMTSL4_uc001euw.3_Missense_Mutation_p.P459L|ADAMTSL4_uc001eux.3_Missense_Mutation_p.P459L|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.P482L|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	459					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCAGAGCCCCGGCTGTGATG	0.624000														55			51		0	0	0.004672	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249790	3249790	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:3249790G>A	uc021qcj.1	-	0	237	c.237C>T	c.(235-237)atC>atT	p.I79I	MRGPRE_uc001lxq.4_Silent_p.I79I	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	79						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCGGGGACGATGGCCACCA	0.622000														74			30		0	0	0.007291	0	0
GPR179	440435	broad.mit.edu	37	17	36483548	36483549	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:36483548_36483549GG>AA	uc002hpz.3	-	10	5924_5925	c.5903_5904CC>TT	c.(5902-5904)tcc>tTT	p.S1968F		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1968						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W1960fs*10(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTGAGAGACGGAATCTGCTGG	0.564000														31			14		0	0	0.004672	0	0
ADORA1	134	broad.mit.edu	37	1	203098205	203098205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:203098205C>T	uc010pqh.1	+	1	372	c.335C>T	c.(334-336)aCc>aTc	p.T112I	ADORA1_uc001gzf.1_Missense_Mutation_p.T79I|ADORA1_uc001gze.1_Missense_Mutation_p.T79I|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	79					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TACTTCCACACCTGCCTCATG	0.617000														216			57		0	0	0.003610	0	0
IGSF10	285313	broad.mit.edu	37	3	151164700	151164700	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:151164700G>A	uc011bod.2	-	3	3069	c.3069C>T	c.(3067-3069)atC>atT	p.I1023I		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1023					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATATGGGCTGATAATCCGCC	0.473000														38			14		0	0	0.001855	0	0
CASP10	843	broad.mit.edu	37	2	202052438	202052438	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:202052438C>T	uc002uxj.1	+	2	775	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CASP10_uc002uxi.1_Silent_p.L119L|CASP10_uc010zhn.1_Intron|CASP10_uc010ftb.2_Silent_p.L119L|CASP10_uc010fta.1_Silent_p.L119L|CASP10_uc002uxk.1_Silent_p.L119L|CASP10_uc002uxl.2_Silent_p.L119L|CASP10_uc002uxm.2_Silent_p.L119L	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	119	DED 2.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GAAACCTGCTCTACGAACTGT	0.403000														53			16		0	0	0.007413	0	0
SGSM1	129049	broad.mit.edu	37	22	25294301	25294301	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:25294301C>T	uc003abg.2	+	19	2707	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	SGSM1_uc010guu.1_Silent_p.F795F|SGSM1_uc003abh.2_Silent_p.F789F|SGSM1_uc003abj.2_Silent_p.F734F|SGSM1_uc003abi.1_Silent_p.F770F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	850	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGACGAGTTCATGTCCATCA	0.627000														56			49		0	0	0.003610	0	0
RTN1	6252	broad.mit.edu	37	14	60213067	60213067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:60213067C>T	uc001xen.1	-	1	583	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	125					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.G125E(2)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAAGAATTCCAGTAAAATA	0.478000														28			5		0	0	0.001168	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178723	38178723	+	Missense_Mutation	SNP	C	T	T	rs142222765		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:38178723C>T	uc002rqn.2	+	1	491	c.365C>T	c.(364-366)tCc>tTc	p.S122F	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AGCTTTATTTCCCGCAGAAGA	0.393000														29			13		0	0	0.003163	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766907	77766907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:77766907G>A	uc003yau.2	+	9	8137	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2539N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2539						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E2584K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAACTAGACGATAAAGAAGA	0.507000										HNSCC(33;0.089)				16			6		0	0	0.001168	0	0
RRP7B	91695	broad.mit.edu	37	22	42970719	42970719	+	RNA	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:42970719T>G	uc003bcs.3	-	6		c.863A>C			RRP7B_uc003bct.3_Non-coding_Transcript					Homo sapiens ribosomal RNA processing 7 homolog B (S. cerevisiae) (RRP7B), non-coding RNA.																		CCTCCAGCCATCCACTGCGGC	0.652000														16			6		0	0	0.001984	0	0
TFCP2	7024	broad.mit.edu	37	12	51511477	51511477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:51511477C>T	uc001rxw.3	-	2	1049	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	TFCP2_uc001rxv.2_Missense_Mutation_p.E110K|TFCP2_uc009zlx.2_Missense_Mutation_p.E110K|TFCP2_uc009zly.1_Missense_Mutation_p.E12K	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	110					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CCATTAATTTCTGGAAGTTCT	0.279000														36			20		0	0	0.003954	0	0
ALMS1	7840	broad.mit.edu	37	2	73675190	73675190	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:73675190C>T	uc002sje.1	+	7	1644	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	ALMS1_uc002sjf.1_Silent_p.S469S|ALMS1_uc002sjg.3_5'UTR|ALMS1_uc002sjh.1_5'UTR	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	511					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCATTTATCCTTGTCCCTTG	0.423000														9			14		0	0	0.002450	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412654	38412654	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:38412654C>T	uc003jlc.2	+	10	1744	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	EGFLAM_uc003jlb.2_Silent_p.I466I|EGFLAM_uc003jle.2_Silent_p.I232I|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	466	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGACCAAAATCAAACTAGGGG	0.498000														5			14		0	0	0.003163	0	0
NAPSA	9476	broad.mit.edu	37	19	50868798	50868798	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50868798G>A	uc002prx.3	-	0	134	c.81C>T	c.(79-81)atC>atT	p.I27I	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	27					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CACCATACCGGATCAGTGTGG	0.587000														26			28		0	0	0.007291	0	0
OR10J1	26476	broad.mit.edu	37	1	159409868	159409869	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:159409868_159409869GG>AA	uc010piv.2	+	0	357_358	c.320_321GG>AA	c.(319-321)ggg>gAA	p.G107E	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	107					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.G107E(2)|p.G107V(2)|p.G263E(1)|p.G263V(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCATTGGCAGGGTGTGCCACAC	0.495000														31			11		0	0	0.004672	0	0
ITGA4	3676	broad.mit.edu	37	2	182395250	182395250	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:182395250G>A	uc002unu.3	+	24	3302	c.2539_splice	c.e24-1	p.T847_splice	ITGA4_uc002unv.3_Splice_Site_p.T92_splice	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	847					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTCTTCATAGACTACTACTG	0.378000														10			3		0	0	0.004672	0	0
PKD1L2	114780	broad.mit.edu	37	16	81198272	81198272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:81198272C>T	uc002fgh.1	-	19	3322	c.3322G>A	c.(3322-3324)Ggc>Agc	p.G1108S	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1108	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCTCCTGGCCGCCCTCCAGA	0.567000														38			37		0	0	0.007835	0	0
CLTCL1	8218	broad.mit.edu	37	22	19226876	19226876	+	Silent	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:19226876T>A	uc021wle.1	-	4	792	c.717A>T	c.(715-717)ggA>ggT	p.G239G	CLTCL1_uc021wld.1_Silent_p.G239G|CLTCL1_uc021wlc.1_Silent_p.G239G|CLTCL1_uc021wlf.1_Silent_p.G239G|CLTCL1_uc011agw.1_Silent_p.G239G	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	239	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGGTTGGTTTCCCGCTGCAG	0.473000			T	?	ALCL									208			179		0	0	0.003610	0	0
TRPM6	140803	broad.mit.edu	37	9	77407677	77407677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:77407677C>T	uc004ajl.1	-	18	2639	c.2401G>A	c.(2401-2403)Gat>Aat	p.D801N	TRPM6_uc004ajk.1_Missense_Mutation_p.D796N|TRPM6_uc022bib.1_Missense_Mutation_p.D796N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	801					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTCCAAATCATACTCTTTC	0.343000														22			10		0	0	0.000673	0	0
TRAFD1	10906	broad.mit.edu	37	12	112579928	112579928	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:112579928C>T	uc001ttp.3	+	5	765	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	TRAFD1_uc001tto.3_Nonsense_Mutation_p.Q227*|TRAFD1_uc010syj.1_Non-coding_Transcript	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	227					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GAATAGAGGCCAACAGCCCCC	0.463000														25			14		0	0	0.004007	0	0
KRT71	112802	broad.mit.edu	37	12	52943959	52943959	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:52943959C>T	uc001sao.3	-	1	580	c.510G>A	c.(508-510)ctG>ctA	p.L170L		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	170	Linker 1.|Rod.						structural molecule activity	p.L170M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TGCAGTTGTTCAGGTCCAGCT	0.597000														91			34		0	0	0.006230	0	0
USH2A	7399	broad.mit.edu	37	1	215916616	215916616	+	Silent	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:215916616T>A	uc001hku.1	-	58	11838	c.11451A>T	c.(11449-11451)acA>acT	p.T3817T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3817	Fibronectin type-III 23.				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)		AGGCCAGAGGTGTTACACTTC	0.413000										HNSCC(13;0.011)				74			54		0	0	0.003610	0	0
VRK3	51231	broad.mit.edu	37	19	50491728	50491728	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50491728A>T	uc002prg.2	-	11	1216	c.1118T>A	c.(1117-1119)cTc>cAc	p.L373H	VRK3_uc002prh.1_Missense_Mutation_p.L373H|VRK3_uc002pri.1_Missense_Mutation_p.L323H|VRK3_uc010ens.2_Missense_Mutation_p.L373H|VRK3_uc010ybl.1_Missense_Mutation_p.L323H|VRK3_uc010ybm.1_Missense_Mutation_p.L142H|VRK3_uc002prk.2_Missense_Mutation_p.L373H|VRK3_uc010ent.2_Missense_Mutation_p.L129H|VRK3_uc002prl.3_Missense_Mutation_p.L373H	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	373	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CAGGCTCTGGAGGTCGCTGCG	0.587000														33			43		0	0	0.003214	0	0
DPYD	1806	broad.mit.edu	37	1	98164965	98164965	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:98164965G>A	uc001drv.3	-	5	759	c.622C>T	c.(622-624)Cga>Tga	p.R208*	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	208					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TACCCCAATCGAGCCAAAAAG	0.393000														10			11		0	0	0.000978	0	0
TK2	7084	broad.mit.edu	37	16	66545952	66545952	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:66545952G>A	uc002eos.3	-	9	1068	c.717C>T	c.(715-717)caC>caT	p.H239H	TK2_uc021tjp.1_Intron|TK2_uc010vip.2_Silent_p.H142H|TK2_uc002eor.3_Silent_p.H208H|TK2_uc010cdq.3_3'UTR|TK2_uc010viq.2_Silent_p.H221H|TK2_uc010vir.2_Silent_p.H214H|TK2_uc010cdr.3_Silent_p.H190H	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TCTCCATGTGGTGGTCAGCCT	0.483000														56			17		0	0	0.001216	0	0
GPR133	283383	broad.mit.edu	37	12	131471824	131471824	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:131471824C>T	uc010tbm.2	+	6	1330	c.771C>T	c.(769-771)ttC>ttT	p.F257F	GPR133_uc001uit.4_Silent_p.F225F	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	225					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACGGTGCTTTCGATGAGTTCA	0.537000														62			31		0	0	0.002445	0	0
LMO1	4004	broad.mit.edu	37	11	8248556	8248557	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:8248556_8248557GG>AA	uc001mgg.1	-	2	827_828	c.330_331CC>TT	c.(328-333)cacctc>caTTtc	p.L111F	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.L110F	NM_002315	NP_002306	P25800	RBTN1_HUMAN	Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA.	111	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		AAGCAGTCGAGGTGATACACGT	0.639000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma								19			15		0	0	0.004672	0	0
SMC5	23137	broad.mit.edu	37	9	72874038	72874038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:72874038C>T	uc004ahr.2	+	0	161	c.44C>T	c.(43-45)cCt>cTt	p.P15L	LOC100507299_uc004ahq.1_5'Flank|LOC100507299_uc022bhz.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	15					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AGCCCCCAGCCTTCCAAGAGA	0.647000														24			9		0	0	0.006214	0	0
GPR37	2861	broad.mit.edu	37	7	124404308	124404308	+	Silent	SNP	C	T	T	rs62638683	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:124404308C>T	uc003vli.3	-	0	1374	c.723G>A	c.(721-723)acG>acA	p.T241T		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	241						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CACGCCGGTTCGTGCTGTTTC	0.627000														52			22		0	0	0.001882	0	0
GPR20	2843	broad.mit.edu	37	8	142367077	142367078	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:142367077_142367078CC>AT	uc022bby.1	-	0	946_947	c.946_947GG>AT	c.(946-948)gga>ATa	p.G316I	GPR20_uc003ywf.3_Missense_Mutation_p.G316I	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	316						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CTCACGCTCTCCGTGCTGGCCG	0.653000														91			20		0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38917293	38917293	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:38917293C>T	uc021yzh.1	+	80	12304	c.12195C>T	c.(12193-12195)atC>atT	p.I4065I	DNAH8_uc003ooe.2_Silent_p.I3848I|DNAH8_uc003oog.1_Silent_p.I297I|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAAATTATCCCTGATGGAT	0.393000														43			22		0	0	0.002299	0	0
C11orf75	56935	broad.mit.edu	37	11	93212344	93212344	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:93212344G>A	uc021qos.1	-	0	12	c.12C>T	c.(10-12)ctC>ctT	p.L4L	C11orf75_uc001pds.4_Silent_p.L4L	NM_020179	NP_064564	Q9NRQ5	CK075_HUMAN	Homo sapiens chromosome 11 open reading frame 75 (C11orf75), mRNA.	4						integral to membrane				endometrium(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCTTCCCTTTGAGCTGCCGCA	0.587000														74			30		0	0	0.004878	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140799445	140799445	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140799445G>A	uc003lkn.2	+	0	2186	c.2019G>A	c.(2017-2019)ccG>ccA	p.P673P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Silent_p.P673P|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	675	Cadherin 6.				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)			AGGTACTGCCGGATTTCAGCG	0.577000														28			21		0	0	0.001882	0	0
NODAL	4838	broad.mit.edu	37	10	72195499	72195499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:72195499G>A	uc001jrc.2	-	1	476	c.434C>T	c.(433-435)aCc>aTc	p.T145I		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	Homo sapiens nodal homolog (mouse) (NODAL), mRNA.	145					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CAAGGAAAAGGTGACCTGGGA	0.557000														30			20		0	0	0.001523	0	0
FAM129A	116496	broad.mit.edu	37	1	184764549	184764549	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:184764549C>T	uc001gra.3	-	13	2543	c.2349G>A	c.(2347-2349)gaG>gaA	p.E783E	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	783	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCCCCAACTCCTCCCCATGGG	0.662000														134			103		0	0	0.003610	0	0
ST18	9705	broad.mit.edu	37	8	53084727	53084727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:53084727C>T	uc003xqz.2	-	4	850	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E197K|ST18_uc011lds.1_Missense_Mutation_p.E137K|ST18_uc003xra.2_Missense_Mutation_p.E232K|ST18_uc003xrb.2_Missense_Mutation_p.E232K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCAGGAACTTCCAATAGGTCT	0.413000														63			42		0	0	0.006230	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911767	38911767	+	Silent	SNP	C	G	G	rs114025017	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:38911767C>G	uc021uub.1	-	2	496	c.282G>C	c.(280-282)ccG>ccC	p.P94P	RASGRP4_uc010efz.2_5'Flank|RASGRP4_uc010ega.2_5'Flank|RASGRP4_uc021utz.1_Silent_p.P94P|RASGRP4_uc021uua.1_Silent_p.P94P|RASGRP4_uc021uuc.1_Silent_p.P94P|RASGRP4_uc021uud.1_Silent_p.P94P|RASGRP4_uc021uue.1_Silent_p.P94P|RASGRP4_uc021uuf.1_Silent_p.P94P	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	94	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding	p.P94P(2)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTCGGCGGACGGCAGCACCC	0.632000														54			62		0	0	0.003610	0	0
PARS2	25973	broad.mit.edu	37	1	55224058	55224058	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:55224058G>A	uc021ont.1	-	0	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F	PARS2_uc001cxy.3_Silent_p.F259F	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	259					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CTGGGAGCTGGAACTCATGAG	0.557000														22			23		0	0	0.003954	0	0
NUP85	79902	broad.mit.edu	37	17	73221904	73221904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:73221904G>A	uc002jng.1	+	9	1227	c.967G>A	c.(967-969)Gat>Aat	p.D323N	NUP85_uc010wrv.1_Missense_Mutation_p.D277N|NUP85_uc002jnh.1_5'Flank	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	323					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AAAACCCATTGATCTGCACTA	0.522000														114			46		0	0	0.003610	0	0
DNHD1	144132	broad.mit.edu	37	11	6519728	6519728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:6519728C>T	uc001mdw.4	+	2	847	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C	DNHD1_uc001mdp.3_Missense_Mutation_p.R95C	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	95					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCTCCATATCGTGAGTTGCT	0.567000														62			33		0	0	0.002096	0	0
ADCY8	114	broad.mit.edu	37	8	131921973	131921973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:131921973C>T	uc003ytd.4	-	5	1877	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	ADCY8_uc010mds.3_Missense_Mutation_p.E541K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	541					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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.L540L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTCCAGATTCGAGTTTGTTT	0.463000										HNSCC(32;0.087)				46			35		0	0	0.001951	0	0
HAAO	23498	broad.mit.edu	37	2	42994629	42994629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:42994629G>A	uc002rst.4	-	9	884	c.809C>T	c.(808-810)tCt>tTt	p.S270F		NM_012205	NP_036337	P46952	3HAO_HUMAN	Homo sapiens 3-hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA.	270	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	p.S270F(2)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CAGGGCCACAGAGCCTTGTGT	0.617000														27			18		0	0	0.002780	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890878	23890878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:23890878G>A	uc001ywj.4	-	0	2116	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTGCGGACCCGATGCCTGGGC	0.701000														7			8		0	0	0.003080	0	0
OR9G4	283189	broad.mit.edu	37	11	56510325	56510325	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:56510325C>T	uc010rjo.2	-	0	963	c.963G>A	c.(961-963)caG>caA	p.Q321Q		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q321E(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTTGTATAGTCTGTGTTGCTT	0.388000														85			22		0	0	0.007291	0	0
IL13RA1	3597	broad.mit.edu	37	X	117900881	117900881	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:117900881T>G	uc004eqs.3	+	7	994	c.951T>G	c.(949-951)aaT>aaG	p.N317K		NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	317						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TCAAAACAAATAAGTTATGCT	0.318000														94			40		0	0	0.003214	0	0
CPLX4	339302	broad.mit.edu	37	18	56985680	56985680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:56985680C>T	uc002lhy.3	-	0	202	c.15G>A	c.(13-15)atG>atA	p.M5I		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	5					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TCATACTTTTCATAAGGAAAG	0.368000														15			7		0	0	0.003080	0	0
SORCS3	22986	broad.mit.edu	37	10	107006989	107006989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:107006989C>T	uc001kyi.1	+	21	3232	c.3005C>T	c.(3004-3006)tCc>tTc	p.S1002F	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1002						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATTTCCAGTCCCAGCTTTTA	0.458000														3			8		0	0	0.000673	0	0
SPINT1	6692	broad.mit.edu	37	15	41146874	41146874	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:41146874C>T	uc001zna.3	+	7	1356	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SPINT1_uc001znb.3_Silent_p.F368F|SPINT1_uc001znc.3_Silent_p.F368F|SPINT1_uc010ucs.2_Silent_p.F375F	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	384						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCATCCATTTCCCCAGTGACA	0.587000														108			38		0	0	0.003214	0	0
SETX	23064	broad.mit.edu	37	9	135173582	135173582	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:135173582T>C	uc004cbk.3	-	12	5849	c.5666A>G	c.(5665-5667)aAg>aGg	p.K1889R	SETX_uc004cbj.3_Missense_Mutation_p.K1508R|SETX_uc010mzt.3_Missense_Mutation_p.K1508R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1889					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGCTTTCAACTTCCTTTGTGT	0.413000														86			8		0	0	0.003080	0	0
NOB1	28987	broad.mit.edu	37	16	69782187	69782187	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:69782187T>G	uc002exs.3	-	6	788	c.772A>C	c.(772-774)Atg>Ctg	p.M258L		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	258						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGAATCAGCATGCCGTTCACC	0.498000														21			25		0	0	0.001786	0	0
PRG4	10216	broad.mit.edu	37	1	186276150	186276151	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:186276150_186276151GG>AA	uc001gru.4	+	6	1350_1351	c.1299_1300GG>AA	c.(1297-1302)aaggag>aaAAag	p.E434K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.E393K|PRG4_uc009wyl.3_Missense_Mutation_p.E341K|PRG4_uc009wym.3_Missense_Mutation_p.E300K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	434	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCACC	0.658000														45			15		0	0	0.004672	0	0
IFT172	26160	broad.mit.edu	37	2	27667965	27667966	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:27667965_27667966GG>AA	uc002rku.3	-	46	5126_5127	c.5075_5076CC>TT	c.(5074-5076)ccc>cTT	p.P1692L	KRTCAP3_uc021vfd.1_Intron|IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1692					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCTCAGAATGGGGTATCCTGT	0.465000														70			26		0	0	0.004672	0	0
NUP160	23279	broad.mit.edu	37	11	47804706	47804706	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:47804706G>A	uc001ngm.3	-	33	4120	c.4035C>T	c.(4033-4035)gaC>gaT	p.D1345D	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Intron	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	1345					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CTTCTAAAAGGTCATAGTTTA	0.378000														48			112		0	0	0.003610	0	0
MYH9	4627	broad.mit.edu	37	22	36712700	36712700	+	Silent	SNP	G	A	A	rs138436678	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:36712700G>A	uc003apg.3	-	11	1473	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	MYH9_uc003aph.1_Silent_p.I278I	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	414	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCAAGGCCTCGATGGCAAAGT	0.572000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					76			24		0	0	0.004656	0	0
ATP6AP1	537	broad.mit.edu	37	X	153662768	153662768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:153662768C>T	uc004flf.1	+	6	960	c.899C>T	c.(898-900)tCc>tTc	p.S300F	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.S260F|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	300					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGACTGGCTCCTTCTGGAAT	0.597000														38			67		0	0	0.003610	0	0
PDLIM7	9260	broad.mit.edu	37	5	176915135	176915135	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:176915135G>A	uc003mhc.1	-	9	1069	c.984C>T	c.(982-984)ttC>ttT	p.F328F	PDLIM7_uc003mha.1_Silent_p.F222F|PDLIM7_uc003mhd.1_Silent_p.F180F|PDLIM7_uc003mhe.1_Non-coding_Transcript|PDLIM7_uc003mhb.1_Silent_p.F294F|PDLIM7_uc003mhf.3_3'UTR	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	Homo sapiens PDZ and LIM domain 7 (enigma) (PDLIM7), transcript variant 1, mRNA.	328	LIM zinc-binding 1.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGTGGGCAGAAGATGGCGC	0.607000														81			36		0	0	0.007835	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886232	9886232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:9886232G>A	uc002koi.4	+	0	510	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	TXNDC2_uc002koh.4_Intron|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	21					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TGGAAAACCAGAAATGAGGCT	0.468000														29			12		0	0	0.000978	0	0
SREBF1	6720	broad.mit.edu	37	17	17723568	17723568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17723568G>A	uc002gru.2	-	1	553	c.359C>T	c.(358-360)cCt>cTt	p.P120L	SREBF1_uc002grp.2_5'Flank|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_5'UTR|SREBF1_uc002grs.2_Missense_Mutation_p.P96L|SREBF1_uc002grt.2_Missense_Mutation_p.P150L|SREBF1_uc010cpp.1_Missense_Mutation_p.P96L|SREBF1_uc010cpq.1_Missense_Mutation_p.P120L	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	120	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTTGATACCAGGCCCAGGGGA	0.677000														80			32		0	0	0.002836	0	0
APOL6	80830	broad.mit.edu	37	22	36054792	36054792	+	Missense_Mutation	SNP	C	T	T	rs149349834		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:36054792C>T	uc003aoe.3	+	2	475	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	61					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGACAAGCTCCGTGCCCTCGC	0.468000														54			7		0	0	0.001984	0	0
P2RX3	5024	broad.mit.edu	37	11	57137447	57137447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:57137447G>A	uc001nju.3	+	11	1355	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	391					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CACCGATTCGGGGGCCTTCTC	0.617000														30			4		0	0	0.000248	0	0
TPK1	27010	broad.mit.edu	37	7	144245588	144245588	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:144245588G>A	uc003weq.3	-	7	712	c.609C>T	c.(607-609)aaC>aaT	p.N203N	TPK1_uc003weo.3_Silent_p.N149N|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Silent_p.N154N|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	203					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACTTACTGAGGTTCCACTTGA	0.383000														52			7		0	0	0.003080	0	0
ABCG8	64241	broad.mit.edu	37	2	44102392	44102392	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:44102392C>T	uc002rtq.3	+	10	1686	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	ABCG8_uc010yoa.2_Silent_p.F531F	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	532	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCTGCACTTCCTGCTGGTGT	0.632000														321			138		0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21788349	21788349	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:21788349C>T	uc003svc.3	+	52	8714	c.8683C>T	c.(8683-8685)Cag>Tag	p.Q2895*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2895	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTATGGAATCCAGGAACTTCG	0.582000									Kartagener syndrome					30			14		0	0	0.004990	0	0
SYTL2	54843	broad.mit.edu	37	11	85459355	85459355	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:85459355G>A	uc010rth.2	-	1	602	c.213C>T	c.(211-213)atC>atT	p.I71I	SYTL2_uc010rtg.2_Silent_p.I71I|SYTL2_uc010rti.2_Silent_p.I71I|SYTL2_uc010rtj.2_Silent_p.I23I|SYTL2_uc001pbf.4_Silent_p.I71I	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	71					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATGCTCTGATGATATCTGCGC	0.458000														12			24		0	0	0.004656	0	0
MVK	4598	broad.mit.edu	37	12	110012659	110012659	+	Missense_Mutation	SNP	C	T	T	rs104895309		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:110012659C>T	uc001toy.4	+	1	216	c.32C>T	c.(31-33)cCg>cTg	p.P11L	MMAB_uc001tov.3_5'Flank|MMAB_uc001tou.3_5'Flank|MMAB_uc010sxq.2_5'Flank|MVK_uc009zvk.3_Missense_Mutation_p.P11L|MVK_uc010sxr.2_Missense_Mutation_p.P11L|MVK_uc001toz.4_5'UTR|MVK_uc021rdo.1_Missense_Mutation_p.P11L|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	11					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GTGTCTGCTCCGGGGAAAGTC	0.493000														24			6		0	0	0.004482	0	0
ST18	9705	broad.mit.edu	37	8	53044701	53044701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:53044701G>A	uc003xqz.2	-	16	2639	c.2483C>T	c.(2482-2484)tCa>tTa	p.S828L	ST18_uc011ldq.1_Missense_Mutation_p.S475L|ST18_uc011ldr.1_Missense_Mutation_p.S793L|ST18_uc011lds.1_Missense_Mutation_p.S733L|ST18_uc003xra.2_Missense_Mutation_p.S828L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	828						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTATTTACCTGATATGTGACC	0.507000														18			6		0	0	0.001984	0	0
C11orf88	399949	broad.mit.edu	37	11	111385558	111385558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:111385558G>A	uc009yyd.3	+	0	49	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	BTG4_uc001plj.3_5'Flank|BTG4_uc001plk.3_5'Flank|C11orf88_uc001plo.1_Missense_Mutation_p.E17K|C11orf88_uc001pln.4_Missense_Mutation_p.E17K	NM_207430	NP_997313	Q6PI97	CK088_HUMAN	Homo sapiens chromosome 11 open reading frame 88 (C11orf88), transcript variant 1, mRNA.	17										endometrium(1)|large_intestine(3)|lung(2)	6						AGAGTCCCAGGAAATGTGCCC	0.602000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			33		0	0	0.004289	0	0
FAN1	22909	broad.mit.edu	37	15	31218060	31218060	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:31218060G>A	uc001zff.3	+	9	2697	c.2406G>A	c.(2404-2406)ggG>ggA	p.G802G	FAN1_uc001zfe.3_Silent_p.G407G	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	802					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGGAGGCCGGGGAGGCCGCTG	0.582000								Direct reversal of damage						285			78		0	0	0.003610	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390360	208390360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:208390360G>A	uc001hgz.3	-	1	1666	c.908C>T	c.(907-909)gCc>gTc	p.A303V	PLXNA2_uc001hha.4_Missense_Mutation_p.A357V	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	303	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCCACCCCGGCCCGGGTGCA	0.612000														88			13		0	0	0.003163	0	0
SRBD1	55133	broad.mit.edu	37	2	45616460	45616460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:45616460G>A	uc002rus.3	-	20	3053	c.2977C>T	c.(2977-2979)Cgg>Tgg	p.R993W	SRBD1_uc010yoc.2_Missense_Mutation_p.R512W	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	993					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CATAACACCCGAATGAGGTCC	0.453000														10			4		0	0	0.000248	0	0
PTPN4	5775	broad.mit.edu	37	2	120720232	120720232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:120720232C>T	uc002tmf.1	+	23	3092	c.2321C>T	c.(2320-2322)tCa>tTa	p.S774L	PTPN4_uc010flj.1_Missense_Mutation_p.S487L|PTPN4_uc010yyr.1_Missense_Mutation_p.S407L	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	774	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACAGGCAGTTCATCTTATGGA	0.363000														20			18		0	0	0.007413	0	0
KLHL13	90293	broad.mit.edu	37	X	117053617	117053617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:117053617C>T	uc011mtp.2	-	4	579	c.446G>A	c.(445-447)aGg>aAg	p.R149K	KLHL13_uc004eqk.3_Missense_Mutation_p.R95K|KLHL13_uc004eql.3_Missense_Mutation_p.R146K|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Missense_Mutation_p.R140K|KLHL13_uc011mtq.2_Missense_Mutation_p.R130K|KLHL13_uc004eqm.3_Missense_Mutation_p.R104K|KLHL13_uc022cde.1_Missense_Mutation_p.R130K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	146	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.I149T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AATAATTTTCCTTAGACCGAC	0.353000														51			17		0	0	0.004990	0	0
MICAL3	57553	broad.mit.edu	37	22	18300865	18300865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:18300865G>A	uc002zng.4	-	25	4915	c.4562C>T	c.(4561-4563)cCc>cTc	p.P1521L	MICAL3_uc011agl.2_Missense_Mutation_p.P1437L|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1521						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATCAGCAAAGGGAATCTCCTC	0.647000														37			12		0	0	0.001368	0	0
PEG3	5178	broad.mit.edu	37	19	57327075	57327075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:57327075C>T	uc002qnu.2	-	6	3086	c.2735G>A	c.(2734-2736)gGa>gAa	p.G912E	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G883E|PEG3_uc002qnv.2_Missense_Mutation_p.G912E|PEG3_uc002qnw.2_Missense_Mutation_p.G788E|PEG3_uc002qnx.2_Missense_Mutation_p.G786E|PEG3_uc010etr.2_Missense_Mutation_p.G912E	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	912					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCACCAGATCCCTCTCCAGG	0.458000														24			17		0	0	0.006122	0	0
NEDD4	4734	broad.mit.edu	37	15	56207725	56207725	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:56207725G>A	uc002adj.3	-	0	1605	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Silent_p.I435I|NEDD4_uc010ugj.2_Silent_p.I435I|NEDD4_uc010bfm.3_Silent_p.I435I|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	435					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATTCTCCATTGATATTTATTT	0.348000														59			40		0	0	0.001951	0	0
C12orf63	374467	broad.mit.edu	37	12	97147570	97147570	+	Silent	SNP	C	T	T	rs139695098		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:97147570C>T	uc021rcc.1	+	22	3087	c.3009C>T	c.(3007-3009)ccC>ccT	p.P1003P				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1003										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGAAGGACCCCTCGAAGTGGT	0.423000														11			5		0	0	0.000602	0	0
SOGA3	387104	broad.mit.edu	37	6	127796793	127796793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:127796793G>A	uc003qbd.3	-	5	3243	c.2378C>T	c.(2377-2379)aCg>aTg	p.T793M	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	793						integral to membrane											GCGAGTGGGCGTGAGGCAGCG	0.706000														41			5		0	0	0.000602	0	0
ALPP	250	broad.mit.edu	37	2	233246397	233246398	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:233246397_233246398CC>TT	uc002vsq.3	+	10	1665_1666	c.1500_1501CC>TT	c.(1498-1503)cccccc>ccTTcc	p.P501S		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	501						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.P501R(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ACCTGGCGCCCCCCGCCGGCAC	0.733000														36			5		0	0	0.004672	0	0
ODZ2	57451	broad.mit.edu	37	5	167654908	167654908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:167654908C>T	uc010jjd.3	+	24	5266	c.5266C>T	c.(5266-5268)Cgg>Tgg	p.R1756W	ODZ2_uc003lzr.4_Missense_Mutation_p.R1526W|ODZ2_uc003lzt.4_Missense_Mutation_p.R1129W|ODZ2_uc010jje.3_Missense_Mutation_p.R1020W	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGATCAAGTTCGGAACAGCTA	0.453000														2			3		0	0	0.004672	0	0
DDX26B	203522	broad.mit.edu	37	X	134714075	134714075	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:134714075A>T	uc004eyw.4	+	14	2734	c.2371A>T	c.(2371-2373)Aag>Tag	p.K791*	DDX26B_uc004eyx.4_Nonsense_Mutation_p.K392*	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	791										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGTTCGAAAGTTTGGTCG	0.373000														18			27		0	0	0.001512	0	0
RP1	6101	broad.mit.edu	37	8	55533781	55533781	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:55533781C>T	uc003xsd.1	+	1	403	c.255C>T	c.(253-255)acC>acT	p.T85T	RP1_uc011ldy.1_Silent_p.T85T	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	85	Doublecortin 1.				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)			ACATCAGCACCCCTCGGGGCA	0.597000														67			54		0	0	0.003610	0	0
CLDN18	51208	broad.mit.edu	37	3	137742526	137742526	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:137742526A>G	uc003ero.1	+	1	300	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	CLDN18_uc003erp.1_Missense_Mutation_p.M83V|CLDN18_uc010hue.1_Missense_Mutation_p.D78G	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	83					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCGAGCCCTGATGATCGTAGG	0.532000														77			6		0	0	0.001984	0	0
ZAN	7455	broad.mit.edu	37	7	100349606	100349606	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100349606C>T	uc003uwj.3	+	13	2043	c.1878C>T	c.(1876-1878)ccC>ccT	p.P626P	ZAN_uc003uwk.3_Silent_p.P626P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	626	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGAAAAACCCACCATCCTCA	0.478000														35			32		0	0	0.004878	0	0
MON1A	84315	broad.mit.edu	37	3	49947834	49947834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49947834G>A	uc003cxz.3	-	3	1514	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	MON1A_uc003cya.3_Missense_Mutation_p.P301L|MON1A_uc003cyb.2_Missense_Mutation_p.P301L	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	366							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGGCACACGGGCGTCCAGGC	0.587000														54			17		0	0	0.006122	0	0
SALL3	27164	broad.mit.edu	37	18	76752540	76752540	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:76752540G>A	uc002lmt.3	+	1	549	c.549G>A	c.(547-549)caG>caA	p.Q183Q	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGTTCTCGCAGGGCGCGCGCG	0.731000														7			3		0	0	0.000248	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331246	17331246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17331246C>T	uc001baa.2	-	4	608	c.418G>A	c.(418-420)Ggt>Agt	p.G140S	ATP13A2_uc001bac.2_Missense_Mutation_p.G140S|ATP13A2_uc001bab.2_Missense_Mutation_p.G140S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	140					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TTCCAGGCACCCTCTGGTACC	0.652000														68			38		0	0	0.001951	0	0
C14orf166B	145497	broad.mit.edu	37	14	77304259	77304259	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77304259C>T	uc001xsx.2	+	4	654	c.540C>T	c.(538-540)atC>atT	p.I180I	C14orf166B_uc010asn.1_Intron|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	180										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGGCCAGAATCATCTCAGATT	0.448000														6			5		0	0	0.001168	0	0
STXBP2	6813	broad.mit.edu	37	19	7709610	7709610	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:7709610C>T	uc010xjr.2	+	13	1296	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	STXBP2_uc002mha.4_Silent_p.V406V|STXBP2_uc002mhb.4_Silent_p.V403V|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Silent_p.V34V	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	406					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGATCCGGGTCCTGCTGCTCT	0.622000														75			14		0	0	0.003163	0	0
OR4B1	119765	broad.mit.edu	37	11	48239195	48239195	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:48239195C>T	uc010rhs.2	+	0	834	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCATCACCCCCATGCTGAACC	0.443000														24			8		0	0	0.004482	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075177	117075177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:117075177G>A	uc001lcg.3	+	17	3354	c.2968G>A	c.(2968-2970)Gag>Aag	p.E990K	ATRNL1_uc010qsm.2_Missense_Mutation_p.E165K|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	990	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCACCACAGTGAGATGGTTCT	0.418000														18			10		0	0	0.006214	0	0
CCDC37	348807	broad.mit.edu	37	3	126133021	126133021	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:126133021C>T	uc010hsg.1	+	3	284	c.225_splice	c.e3+1	p.S75_splice	CCDC37_uc003eiu.1_Splice_Site_p.S75_splice	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	75										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGGCTCTCTCCGTGAGTATC	0.552000														107			72		0	0	0.003610	0	0
NEDD4L	23327	broad.mit.edu	37	18	56054695	56054695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:56054695G>A	uc002lgy.3	+	26	2795	c.2512G>A	c.(2512-2514)Gat>Aat	p.D838N	NEDD4L_uc002lgz.3_Missense_Mutation_p.D774N|NEDD4L_uc002lgx.3_Missense_Mutation_p.D818N|NEDD4L_uc010xee.1_Missense_Mutation_p.D717N|NEDD4L_uc002lhc.2_Missense_Mutation_p.D830N|NEDD4L_uc002lhd.2_Missense_Mutation_p.D717N|NEDD4L_uc002lhb.2_Missense_Mutation_p.D697N|NEDD4L_uc002lhe.2_Missense_Mutation_p.D810N|NEDD4L_uc002lhf.3_Missense_Mutation_p.D697N|NEDD4L_uc002lhg.3_Missense_Mutation_p.D717N|NEDD4L_uc002lhh.2_Missense_Mutation_p.D613N	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	838	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.D837Y(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACTTCCTATTGATTTGATTAA	0.249000														10			9		0	0	0.004482	0	0
UGCG	7357	broad.mit.edu	37	9	114695137	114695137	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:114695137T>C	uc004bft.3	+	8	1335	c.1045T>C	c.(1045-1047)Tat>Cat	p.Y349H		NM_003358	NP_003349	Q16739	CEGT_HUMAN	Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.	349					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	p.D348H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	AAAACTTGATTATGCAGTCGC	0.358000														57			27		0	0	0.004289	0	0
STRA6	64220	broad.mit.edu	37	15	74473122	74473123	+	Splice_Site	DNP	CC	TT	TT	rs144114337		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:74473122_74473123CC>TT	uc002axj.3	-	18	2317	c.1957_splice	c.e18+1	p.G653_splice	STRA6_uc002axi.3_Splice_Site_p.G423_splice|STRA6_uc010ulh.2_Splice_Site_p.G652_splice|STRA6_uc002axk.3_Splice_Site_p.G614_splice|STRA6_uc002axl.3_Splice_Site_p.G546_splice|STRA6_uc010bji.3_Splice_Site_p.G614_splice|STRA6_uc021sqg.1_Splice_Site_p.G629_splice|STRA6_uc002axm.3_Splice_Site_p.G614_splice|STRA6_uc002axn.3_Splice_Site_p.G605_splice|STRA6_uc010uli.2_Splice_Site_p.G651_splice	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	614					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGAGGGCGCACCTTCGTCTTCC	0.614000														74			39		0	0	0.004672	0	0
SYNE1	23345	broad.mit.edu	37	6	152472804	152472804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:152472804C>T	uc021zhb.1	-	132	24557	c.24334G>A	c.(24334-24336)Gag>Aag	p.E8112K	SYNE1_uc003qos.4_Missense_Mutation_p.E2636K|SYNE1_uc003qot.4_Missense_Mutation_p.E8041K|SYNE1_uc003qou.4_Missense_Mutation_p.E8112K|SYNE1_uc011eez.2_Missense_Mutation_p.E314K|SYNE1_uc003qoq.4_Missense_Mutation_p.E314K|SYNE1_uc003qor.4_Missense_Mutation_p.E1012K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8112					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCTCAAACTCCTCACGCTGG	0.418000										HNSCC(10;0.0054)				1			16		0	0	0.007413	0	0
TSPYL2	64061	broad.mit.edu	37	X	53115420	53115420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:53115420G>A	uc004drw.3	+	5	1985	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	TSPYL2_uc004drv.3_3'UTR|TSPYL2_uc004drx.1_Missense_Mutation_p.D221N	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	616	Asp-rich.				cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CTTTGACAAGGATCAGGCTGA	0.478000														66			19		0	0	0.001882	0	0
KLHL10	317719	broad.mit.edu	37	17	40004384	40004384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40004384C>T	uc010cxr.3	+	4	1794	c.1652C>T	c.(1651-1653)aCc>aTc	p.T551I	KLHL10_uc010wfw.2_Missense_Mutation_p.T463I	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	551						cytoplasm		p.K550K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GATGAAAAGACCGATGAGTGG	0.463000														76			22		0	0	0.001882	0	0
PAIP1	10605	broad.mit.edu	37	5	43547949	43547949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:43547949G>A	uc003job.3	-	2	749	c.502C>T	c.(502-504)Cat>Tat	p.H168Y	PAIP1_uc003joa.3_Missense_Mutation_p.H89Y|PAIP1_uc003joc.3_Missense_Mutation_p.H56Y	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	168	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCTGTAAGATGATTCAAAAAA	0.363000														44			22		0	0	0.002780	0	0
TSC22D4	81628	broad.mit.edu	37	7	100074934	100074934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100074934C>T	uc003uva.3	-	1	1483	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	TSC22D4_uc011kjv.2_Missense_Mutation_p.R4Q|TSC22D4_uc010lgx.3_Missense_Mutation_p.R243Q|TSC22D4_uc003uvc.4_Missense_Mutation_p.R243Q	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	243					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACTCCATCCGCAGCCGCAT	0.642000														114			30		0	0	0.003755	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455329	70455329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:70455329C>T	uc011caq.2	-	6	1959	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	UGT2A1_uc010ihu.3_Missense_Mutation_p.D449N|UGT2A1_uc003hem.4_Missense_Mutation_p.D449N|UGT2A1_uc010ihs.3_Missense_Mutation_p.D458N|UGT2A1_uc021xox.1_Missense_Mutation_p.D414N|UGT2A1_uc010iht.3_Missense_Mutation_p.D405N	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	449					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGTTGATCATGGTGAATT	0.408000														15			11		0	0	0.000978	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250530	140250530	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:140250530G>A	uc003lia.2	+	0	2700	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.A614A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	626	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGGCGGCGGGCGGCTCGC	0.682000														52			33		0	0	0.004878	0	0
GABRA3	2556	broad.mit.edu	37	X	151336952	151336952	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:151336952C>T	uc010ntk.1	-	9	1467	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	409					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.A408S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTCAGTGTCCTTGGCCAGGT	0.542000														24			28		0	0	0.002445	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558991	129558991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:129558991G>A	uc009zyl.1	-	8	3057	c.2729C>T	c.(2728-2730)tCc>tTc	p.S910F	TMEM132D_uc001uia.2_Missense_Mutation_p.S448F	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	910						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCCCTTTGGATGCCTGCAT	0.502000														23			45		0	0	0.003610	0	0
POP1	10940	broad.mit.edu	37	8	99152397	99152397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:99152397C>T	uc003yij.4	+	9	1554	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	POP1_uc011lgv.2_Missense_Mutation_p.A485V|POP1_uc003yik.3_Missense_Mutation_p.A485V|TRNA_Und_uc022aza.1_5'Flank	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	485					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGACAAGAAGCCATTTTCGAG	0.502000														21			11		0	0	0.000978	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463286	5463286	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:5463286A>C	uc003jdm.4	+	12	4061	c.3839A>C	c.(3838-3840)aAa>aCa	p.K1280T		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1280										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCAATGGTAAAGATACTGGC	0.378000														18			10		0	0	0.000673	0	0
NF1	4763	broad.mit.edu	37	17	29556425	29556425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:29556425C>T	uc002hgg.3	+	20	3175	c.2792C>T	c.(2791-2793)cCa>cTa	p.P931L	NF1_uc002hgh.3_Missense_Mutation_p.P931L|NF1_uc010csn.2_Missense_Mutation_p.P791L|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	931					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTCTGTATCCAATGCTATTT	0.388000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				11			14		0	0	0.003163	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722768	64722768	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:64722768G>A	uc010nko.3	+	4	2257	c.2190G>A	c.(2188-2190)tgG>tgA	p.W730*		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	719							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCCAGCTGGGACCCGCTGC	0.567000														4			3		0	0	0.004672	0	0
FAM105A	54491	broad.mit.edu	37	5	14602344	14602344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:14602344G>A	uc003jfj.3	+	4	514	c.401G>A	c.(400-402)aGg>aAg	p.R134K		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	134										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CGACAAGTAAGGAGAGATAAC	0.358000														32			11		0	0	0.000978	0	0
STEAP3	55240	broad.mit.edu	37	2	120003148	120003148	+	Missense_Mutation	SNP	G	A	A	rs148260187		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:120003148G>A	uc002tlp.3	+	2	233	c.76G>A	c.(76-78)Gat>Aat	p.D26N	STEAP3_uc002tlq.3_Missense_Mutation_p.D36N|STEAP3_uc002tlr.3_Missense_Mutation_p.D26N|STEAP3_uc010fle.3_Missense_Mutation_p.D26N	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	26					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGGTCCCCGATGAGGCCCC	0.617000														48			23		0	0	0.003954	0	0
ZNF831	128611	broad.mit.edu	37	20	57769221	57769221	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:57769221G>A	uc002yan.3	+	0	3147	c.3147G>A	c.(3145-3147)agG>agA	p.R1049R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1049						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCTCCCAGGGAGGCTACCT	0.637000														15			7		0	0	0.001984	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														80			31		0	0	0.003271	0	0
CD163	9332	broad.mit.edu	37	12	7636224	7636225	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:7636224_7636225CC>TT	uc001qsz.3	-	11	2954_2955	c.2826_2827GG>AA	c.(2824-2829)gtggag>gtAAag	p.E943K	CD163_uc001qta.3_Missense_Mutation_p.E943K|CD163_uc009zfw.2_Missense_Mutation_p.E976K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	943	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCCAGATCTCCACACGTCCAG	0.480000														6			11		0	0	0.004672	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319602	21319602	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:21319602C>T	uc021tss.1	+	2	1318	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KCNJ18_uc002gyv.1_Silent_p.Y316Y|KCNJ18_uc021tst.1_Silent_p.Y316Y	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	316						integral to membrane	inward rectifier potassium channel activity										GCAGCTCCTACCTGGCCAATG	0.582000														205			9		0	0	0.004482	0	0
ARSH	347527	broad.mit.edu	37	X	2933366	2933366	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:2933366C>T	uc011mhj.2	+	3	696	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	232						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATGAAATTATCCAGCAGCCAA	0.428000														27			11		0	0	0.001368	0	0
CHD1L	9557	broad.mit.edu	37	1	146728204	146728204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:146728204C>T	uc001epm.4	+	4	545	c.482C>T	c.(481-483)tCa>tTa	p.S161L	CHD1L_uc001epn.4_Missense_Mutation_p.S48L|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.S161L|CHD1L_uc010ozp.2_Intron|CHD1L_uc001epo.4_Intron	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	161	Helicase ATP-binding.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AAAGATGCATCATTTCTAAAA	0.343000														52			15		0	0	0.007413	0	0
CD33	945	broad.mit.edu	37	19	51728840	51728840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51728840C>T	uc002pwa.2	+	1	444	c.404C>T	c.(403-405)tCt>tTt	p.S135F	CD33_uc010eos.1_Missense_Mutation_p.S135F|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	135	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCCCAGCTCTCTGTGCATGTG	0.547000														11			29		0	0	0.003271	0	0
MAGI1	9223	broad.mit.edu	37	3	65376950	65376950	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:65376950G>A	uc003dmn.3	-	13	2809	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	MAGI1_uc003dmm.3_Silent_p.S761S|MAGI1_uc003dmo.3_Silent_p.S761S|MAGI1_uc003dmp.3_Silent_p.S761S|MAGI1_uc010hnx.1_Silent_p.S44S	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	761					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGTGCTGTGGCTTGGGGATG	0.517000														38			21		0	0	0.003330	0	0
DEF6	50619	broad.mit.edu	37	6	35289056	35289056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:35289056G>A	uc003okk.3	+	10	1804	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	DEF6_uc010jvs.3_Missense_Mutation_p.G564R|DEF6_uc010jvt.3_Missense_Mutation_p.G334R	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	589						cytoplasm|nucleus|plasma membrane		p.G589E(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GACCCGCTGGGGATCCCAGGG	0.642000														85			38		0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	3253830	3253830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:3253830C>T	uc022aqr.1	-	16	2869	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	CSMD1_uc011kwj.2_Missense_Mutation_p.E220K|CSMD1_uc003wqe.3_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	828	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTGGTACTCGCCGATCAGT	0.537000														1			5		0	0	0.001984	0	0
GPR98	84059	broad.mit.edu	37	5	89992899	89992899	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:89992899C>T	uc003kju.3	+	33	8187	c.8091C>T	c.(8089-8091)gcC>gcT	p.A2697A	GPR98_uc003kjt.3_Silent_p.A403A|GPR98_uc003kjv.3_Silent_p.A297A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2697					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATTTTGGCCAATGACAATG	0.403000														42			14		0	0	0.004007	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373945	62373945	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:62373945T>A	uc002ygq.3	+	5	992	c.937T>A	c.(937-939)Tgt>Agt	p.C313S	SLC2A4RG_uc002ygr.3_Missense_Mutation_p.C208S|SLC2A4RG_uc011abj.2_Missense_Mutation_p.C208S|SLC2A4RG_uc002ygs.3_Missense_Mutation_p.C115S	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	313						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCCCAGTCCTGTCACAGTGA	0.706000														23			9		0	0	0.006214	0	0
LPAR4	2846	broad.mit.edu	37	X	78010570	78010570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:78010570G>A	uc022bzj.1	+	0	204	c.204G>A	c.(202-204)atG>atA	p.M68I	LPAR4_uc010nme.3_Missense_Mutation_p.M68I	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	68						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTTTCCGCATGAAAATGAGAA	0.363000														61			29		0	0	0.006320	0	0
SLC35F5	80255	broad.mit.edu	37	2	114480716	114480716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:114480716G>A	uc002tku.1	-	12	1720	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	SLC35F5_uc002tkt.3_Non-coding_Transcript|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	436					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ATGGACAGAGGTATTGTAAGG	0.299000														32			61		0	0	0.003610	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199412	71199412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:71199412G>A	uc001xmm.3	-	10	2674	c.2674C>T	c.(2674-2676)Cct>Tct	p.P892S	MAP3K9_uc010ttk.2_Missense_Mutation_p.P620S|MAP3K9_uc001xmk.3_Missense_Mutation_p.P625S|MAP3K9_uc001xml.3_Missense_Mutation_p.P906S	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	892	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GATTGGTTAGGATCTCGTTTG	0.602000														219			57		0	0	0.003610	0	0
OR6C75	390323	broad.mit.edu	37	12	55759518	55759518	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:55759518C>T	uc010spk.2	+	0	624	c.624C>T	c.(622-624)acC>acT	p.T208T		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGATGGTCACCTTGACATTAG	0.408000														7			3		0	0	0.000248	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073196	34073196	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:34073196G>A	uc002hjv.2	-	5	1348	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	440					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAATGGCTCGGAGTCTTTGTG	0.612000														158			53		0	0	0.003610	0	0
RAI1	10743	broad.mit.edu	37	17	17707084	17707084	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17707084C>A	uc002grm.3	+	3	6049	c.5580C>A	c.(5578-5580)tgC>tgA	p.C1860*		NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1860						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTTCCAGCTGCCAAGAAGCCG	0.597000														70			21		3.5997e-14	6.86684e-14	0.002299	1	0
OR4F15	390649	broad.mit.edu	37	15	102359049	102359049	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:102359049C>T	uc010uts.2	+	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCTACATCTTCATTCTGTTCA	0.473000														18			28		0	0	0.001786	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628753	41628753	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:41628753C>T	uc002opu.1	+	6	905	c.849C>T	c.(847-849)ttC>ttT	p.F283F	CYP2F1_uc021uuv.1_Silent_p.F69F|CYP2F1_uc010xvv.1_Silent_p.F283F|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	283					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGAGCCACTTCCACATGGATA	0.572000														46			15		0	0	0.006122	0	0
DIEXF	27042	broad.mit.edu	37	1	210014265	210014265	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:210014265T>C	uc001hhr.2	+	7	1447	c.1350T>C	c.(1348-1350)gcT>gcC	p.A450A	DIEXF_uc009xcu.2_Silent_p.A165A	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	450					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCCTCATTGCTTCCCCCCTGG	0.463000														24			18		0	0	0.001216	0	0
CGN	57530	broad.mit.edu	37	1	151495951	151495951	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:151495951G>A	uc009wmw.3	+	5	1326	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	388	Glu-rich.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCTGGAGCGGCAGCTGGAGG	0.572000														149			32		0	0	0.001786	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511645	130511645	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:130511645G>A	uc004bsc.3	-	4	1126	c.984C>T	c.(982-984)ctC>ctT	p.L328L	SH2D3C_uc010mxo.3_Silent_p.L168L|SH2D3C_uc004bry.3_Silent_p.L170L|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.L260L|SH2D3C_uc004bsa.3_Silent_p.L171L	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	328					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTGGCCTCGAGGTAGCGCA	0.652000														27			13		0	0	0.002450	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:3241350C>T	uc004crg.4	-	4	2533	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000														46			61		0	0	0.003610	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518217	113518217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:113518217G>A	uc010ljy.1	-	3	2961	c.2930C>T	c.(2929-2931)tCc>tTc	p.S977F		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	977					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGAACTTCTGGAAACTTCTTC	0.378000														22			5		0	0	0.000602	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	G	G	rs1054157	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:22663086T>G	uc021wml.1	+	30		c.2444T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCT	0.299000														46			4		0	0	0.001984	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622590	31622590	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:31622590G>A	uc010zuc.2	+	3	324	c.324G>A	c.(322-324)gaG>gaA	p.E108E	BPIFB6_uc010zud.2_Silent_p.E47E	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	108						extracellular region	lipid binding										GGAACATGGAGATCATCGTGG	0.592000														112			26		0	0	0.007291	0	0
TRIM58	25893	broad.mit.edu	37	1	248039313	248039313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248039313G>A	uc001ido.3	+	5	1031	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	328	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACCCTGAGCGATTTGACACA	0.602000														41			11		0	0	0.000673	0	0
ABL1	25	broad.mit.edu	37	9	133755918	133755918	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:133755918C>T	uc004bzw.3	+	9	1548	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	ABL1_uc004bzv.3_Silent_p.V534V	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	515					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AACAAGGCGTCCGTGGGGCTG	0.562000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									46			22		0	0	0.002780	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399922	87399922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:87399922G>A	uc003ujb.3	+	7	1117	c.706G>A	c.(706-708)Gag>Aag	p.E236K	RUNDC3B_uc011khd.1_Missense_Mutation_p.E219K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E219K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E219K|RUNDC3B_uc003ujd.3_Missense_Mutation_p.E141K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	236										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CAGTGATGAGGAGGAGCTAAG	0.388000														21			5		0	0	0.001168	0	0
RNASE10	338879	broad.mit.edu	37	14	20978885	20978885	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:20978885C>T	uc001vxp.2	+	1	743	c.339C>T	c.(337-339)atC>atT	p.I113I	RNASE10_uc010tlj.2_Silent_p.I85I	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	85						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AAGATCCCATCCTCGGTGAAG	0.517000														34			9		0	0	0.004482	0	0
INPP5B	3633	broad.mit.edu	37	1	38328076	38328076	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:38328076G>A	uc001ccf.1	-	17	2198	c.2161C>T	c.(2161-2163)Cga>Tga	p.R721*	INPP5B_uc009vvk.1_Silent_p.F679F|INPP5B_uc001ccg.1_Nonsense_Mutation_p.R885*|MTF1_uc001cce.1_5'Flank|MTF1_uc009vvj.1_5'Flank	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	965					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCTGGGTTTCGAAGCAATAAG	0.423000														59			46		0	0	0.003610	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162407	142162407	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142162407G>A	uc011krw.2	-	1	1	c.-43_splice	c.e1-1		TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc022ani.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TCTGTGCATTGATGAAAGGGG	0.592000														6			3		0	0	0.004672	0	0
ISM2	145501	broad.mit.edu	37	14	77951251	77951251	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:77951251G>A	uc001xtz.3	-	1	227	c.153C>T	c.(151-153)tcC>tcT	p.S51S	ISM2_uc001xua.3_Silent_p.S51S|ISM2_uc001xty.3_5'UTR	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	51						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TAGGATCTGGGGAGGCTGAGA	0.612000														83			10		0	0	0.000978	0	0
KLK15	55554	broad.mit.edu	37	19	51330167	51330167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51330167C>T	uc002ptl.3	-	2	479	c.448G>A	c.(448-450)Gag>Aag	p.E150K	KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Missense_Mutation_p.E150K|KLK15_uc002pto.3_Missense_Mutation_p.E149K|KLK15_uc010ych.2_Intron|KLK15_uc010yci.2_Missense_Mutation_p.E149K|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	150	Peptidase S1.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).	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)		GTCCCAGGCTCGTTGTGGGAC	0.687000														37			19		0	0	0.001216	0	0
SPATA8	145946	broad.mit.edu	37	15	97328248	97328248	+	Silent	SNP	G	A	A	rs145348357		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:97328248G>A	uc002bue.3	+	2	426	c.219G>A	c.(217-219)agG>agA	p.R73R	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	73								p.R73R(2)|p.R73K(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CTCACGGAAGGATCCAAAGGG	0.453000														81			69		0	0	0.003610	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887453	12887453	+	Missense_Mutation	SNP	C	T	T	rs2486714	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:12887453C>T	uc001auk.2	-	2	600	c.404G>A	c.(403-405)aGa>aAa	p.R135K		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	135										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TAGTAAATCTCTCCTCTGCTT	0.463000														8			3		0	0	0.000248	0	0
OR7G3	390883	broad.mit.edu	37	19	9236857	9236857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:9236857C>T	uc010xkl.2	-	0	770	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAGGTACACCCCAAACCCTGT	0.463000														53			18		0	0	0.007413	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:35478537C>T	uc003anj.3	+	1	1207	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000														14			23		0	0	0.006320	0	0
FBXO34	55030	broad.mit.edu	37	14	55818527	55818527	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:55818527C>T	uc021rtk.1	+	0	1419	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Silent_p.S473S|FBXO34_uc010aoo.3_Silent_p.S473S	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	473										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTTTAAACTCCTGTGAAGACC	0.423000														37			10		0	0	0.000673	0	0
ELN	2006	broad.mit.edu	37	7	73474706	73474706	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:73474706G>C	uc003tzw.3	+	25	1731	c.1640_splice	c.e25-1	p.R547_splice	ELN_uc003tzn.3_Splice_Site_p.R541_splice|ELN_uc003tzy.3_Splice_Site_p.R517_splice|ELN_uc003tzz.3_Splice_Site_p.R460_splice|ELN_uc003tzo.3_Splice_Site_p.G493_splice|ELN_uc003tzp.3_Splice_Site_p.R452_splice|ELN_uc003tzq.3_Splice_Site_p.R405_splice|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Splice_Site_p.R522_splice|ELN_uc003tzt.3_Splice_Site_p.R546_splice|ELN_uc003tzu.3_Splice_Site_p.R527_splice|ELN_uc003tzv.3_Splice_Site_p.R512_splice|ELN_uc011kfe.2_Splice_Site|ELN_uc003tzx.3_Splice_Site_p.R531_splice|ELN_uc011kff.2_Splice_Site_p.R541_splice	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	570	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGTCTGCAGGAGCTGCAGCT	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							73			45		0	0	0.002852	0	0
CACNA1D	776	broad.mit.edu	37	3	53757629	53757629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:53757629C>T	uc003dgv.4	+	12	1998	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	CACNA1D_uc003dgu.4_Missense_Mutation_p.P632L|CACNA1D_uc003dgy.4_Missense_Mutation_p.P612L|CACNA1D_uc003dgw.4_Missense_Mutation_p.P279L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	612					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATCATGTCTCCCCTGGGGATC	0.463000														230			97		0	0	0.003610	0	0
KLK13	26085	broad.mit.edu	37	19	51559980	51559980	+	Missense_Mutation	SNP	G	A	A	rs147145797		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51559980G>A	uc002pvn.3	-	4	741	c.698C>T	c.(697-699)tCc>tTc	p.S233F	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.S160F|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Missense_Mutation_p.S81F	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	233	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GTCTCCCCAGGAGACGATGCC	0.552000														63			22		0	0	0.001523	0	0
MEFV	4210	broad.mit.edu	37	16	3293268	3293268	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3293268A>C	uc002cun.1	-	9	2259	c.2219T>G	c.(2218-2220)aTc>aGc	p.I740S	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.I320S|MEFV_uc021tby.1_Missense_Mutation_p.I243S|MEFV_uc021tbz.1_Missense_Mutation_p.I159S|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	740	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.H739P(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAATGTATAGATGTGGGATCT	0.522000														78			30		0	0	0.003755	0	0
TRPM2	7226	broad.mit.edu	37	21	45786747	45786747	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:45786747G>A	uc010gpt.1	+	3	634	c.534G>A	c.(532-534)aaG>aaA	p.K178K	TRPM2_uc002zet.1_Silent_p.K178K|TRPM2_uc002zeu.1_Silent_p.K178K|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.K178K|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	178						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGGGGCCAAGAACTTCAACA	0.617000														69			16		0	0	0.004007	0	0
FAIM	55179	broad.mit.edu	37	3	138340342	138340342	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:138340342G>A	uc003esr.3	+	1	332	c.72G>A	c.(70-72)ggG>ggA	p.G24G	FAIM_uc003eso.1_Silent_p.G58G|FAIM_uc003esq.3_Silent_p.G46G|FAIM_uc003esp.3_Silent_p.G58G|FAIM_uc003ess.3_Silent_p.G24G	NM_001033032	NP_060617	Q9NVQ4	FAIM1_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA.	24					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TTGAACATGGGACTACATCAG	0.363000														201			104		0	0	0.003610	0	0
ABP1	26	broad.mit.edu	37	7	150555987	150555987	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:150555987C>T	uc003why.1	+	3	5925	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	ABP1_uc003whz.1_Silent_p.F569F|ABP1_uc003wia.1_Silent_p.F569F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	569	Heparin-binding (By similarity).				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCTTCCGCTTCAAAAGGAAGC	0.617000														41			11		0	0	0.000673	0	0
F9	2158	broad.mit.edu	37	X	138619207	138619207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:138619207C>T	uc004fas.1	+	1	156	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	F9_uc004fat.1_Missense_Mutation_p.R43W	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	43			R -> L (in HEMB; severe; Bendorf, Beuten, Gleiwitz, etc.).|R -> Q (in HEMB; severe; San Dimas, Oxford-3, Strasbourg-2, etc.).|R -> W (in HEMB; severe; Boxtel, Heiden, Lienen, etc.).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AATTCTGAATCGGCCAAAGAG	0.318000														12			21		0	0	0.001882	0	0
ODZ2	57451	broad.mit.edu	37	5	167675294	167675294	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:167675294G>A	uc010jjd.3	+	26	7323	c.7323G>A	c.(7321-7323)aaG>aaA	p.K2441K	ODZ2_uc003lzr.4_Silent_p.K2211K|ODZ2_uc003lzt.4_Silent_p.K1814K|ODZ2_uc010jje.3_Silent_p.K1705K	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACGTGGGCAAGGAGCCGGCCC	0.517000														29			15		0	0	0.003163	0	0
OXER1	165140	broad.mit.edu	37	2	42990815	42990815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:42990815G>A	uc002rss.3	-	0	587	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	169					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGCATGAAGAGGTTGACTTTG	0.617000														19			21		0	0	0.001882	0	0
WTIP	126374	broad.mit.edu	37	19	34985526	34985526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:34985526C>T	uc002nvm.3	+	5	1067	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGTGCCCGTCCTATCCTCCCT	0.572000														23			11		0	0	0.003163	0	0
PRSS1	5644	broad.mit.edu	37	7	142459675	142459675	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142459675A>T	uc003wak.2	+	2	268	c.251A>T	c.(250-252)aAt>aTt	p.N84I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.N24I	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	84	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTGGAGGGGAATGAGCAGTTC	0.547000														85			36		0	0	0.005524	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930179	45930179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:45930179G>A	uc003tnp.3	+	1	675	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	128						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						AGAGAGCACGGAGATAACTGA	0.557000														65			48		0	0	0.003610	0	0
TLR1	7096	broad.mit.edu	37	4	38798109	38798109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:38798109C>T	uc003gtl.3	-	3	2618	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	TLR1_uc021xnn.1_Missense_Mutation_p.E782K	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	782					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGCTTGCTCTGTCAGCTTA	0.398000														9			7		0	0	0.006214	0	0
RERGL	79785	broad.mit.edu	37	12	18234186	18234186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:18234186C>T	uc001rdq.3	-	5	751	c.557G>A	c.(556-558)gGa>gAa	p.G186E		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	186	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGATTTAGATCCACTGGGACG	0.383000														15			18		0	0	0.001523	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189520	11189520	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:11189520A>T	uc003wtp.1	+	0	1026	c.905A>T	c.(904-906)cAt>cTt	p.H302L		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	302	DUF6 2.					integral to membrane											TATATGCTCCATGAGACTGTG	0.572000														74			128		0	0	0.003610	0	0
SDK2	54549	broad.mit.edu	37	17	71361453	71361453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:71361453G>A	uc010dfm.3	-	37	5249	c.5249C>T	c.(5248-5250)cCc>cTc	p.P1750L	SDK2_uc002jjt.4_Missense_Mutation_p.P890L|SDK2_uc010dfn.2_Missense_Mutation_p.P1429L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1750	Fibronectin type-III 12.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GATGCCATTGGGGAACTGCGG	0.642000														17			10		0	0	0.006214	0	0
JAM2	58494	broad.mit.edu	37	21	27086951	27086951	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:27086951G>A	uc002ylp.1	+	10	1410	c.865_splice	c.e10-1	p.D289_splice	JAM2_uc002ylq.1_Splice_Site|JAM2_uc011acf.1_Splice_Site_p.D253_splice	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	289				DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).	blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TCTTTTCCTAGGATTTCAAGC	0.259000														2			29		0	0	0.002096	0	0
ANO1	55107	broad.mit.edu	37	11	69951858	69951858	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:69951858G>A	uc001opj.3	+	4	1016	c.711G>A	c.(709-711)aaG>aaA	p.K237K	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.K209K|ANO1_uc010rqk.2_5'Flank	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	237					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGTCTGATAAGGATTCCTTTT	0.502000														53			17		0	0	0.007413	0	0
NPY1R	4886	broad.mit.edu	37	4	164247358	164247358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:164247358G>A	uc003iqm.2	-	1	814	c.349C>T	c.(349-351)Cct>Tct	p.P117S	NPY1R_uc021xtv.1_Missense_Mutation_p.P117S|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	117					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCACAAAAGGATTCAACTTA	0.453000														21			12		0	0	0.001855	0	0
OR10H1	26539	broad.mit.edu	37	19	15918158	15918158	+	Silent	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15918158A>T	uc002nbq.2	-	0	779	c.690T>A	c.(688-690)ccT>ccA	p.P230P		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I229M(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CTTCAGCAGAAGGGATCTTCA	0.567000														59			42		0	0	0.003610	0	0
TMEM8A	58986	broad.mit.edu	37	16	427075	427075	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:427075G>A	uc002cgu.4	-	3	726	c.597C>T	c.(595-597)ccC>ccT	p.P199P	TMEM8A_uc002cgv.4_Silent_p.P6P	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	199					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TCTGAGGAAGGGGCACGTCCG	0.647000											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		53			17		0	0	0.006122	0	0
TAF5L	27097	broad.mit.edu	37	1	229730170	229730171	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:229730170_229730171GG>AA	uc001htq.3	-	4	1809_1810	c.1643_1644CC>TT	c.(1642-1644)gcc>gTT	p.A548V		NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	548					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGGAGCCGTCGGCAGGTGCACT	0.594000														36			12		0	0	0.004672	0	0
ERBB4	2066	broad.mit.edu	37	2	212285327	212285327	+	Missense_Mutation	SNP	G	A	A	rs143134749		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:212285327G>A	uc002veg.1	-	24	3072	c.2974C>T	c.(2974-2976)Cgt>Tgt	p.R992C	ERBB4_uc002veh.1_Missense_Mutation_p.R992C|ERBB4_uc010zji.1_Missense_Mutation_p.R982C|ERBB4_uc010zjj.1_Missense_Mutation_p.R982C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	992					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D991N(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGCTTCATACGATCATCACCC	0.368000										TSP Lung(8;0.080)				30			11		0	0	0.002450	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41609932	41609932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:41609932G>A	uc003azo.3	+	2	352	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	L3MBTL2_uc010gyi.1_Missense_Mutation_p.E9K|L3MBTL2_uc003azn.3_Non-coding_Transcript|AK057177_uc003azp.1_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	100					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTACAAGGGAAGCCTTCTT	0.507000														141			55		0	0	0.003610	0	0
PADI6	353238	broad.mit.edu	37	1	17714972	17714972	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:17714972T>C	uc001bak.1	+	6	776	c.776T>C	c.(775-777)gTt>gCt	p.V259A		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	251					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACTTTCTACGTTGAAGCTATA	0.532000														11			20		0	0	0.004656	0	0
HK2	3099	broad.mit.edu	37	2	75115095	75115095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:75115095C>T	uc002snd.3	+	15	4211	c.2285C>T	c.(2284-2286)aCc>aTc	p.T762I		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	762	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATCGATTTCACCAAGCGTGGA	0.468000														136			42		0	0	0.001951	0	0
TMEM130	222865	broad.mit.edu	37	7	98445747	98445747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:98445747C>T	uc003upo.3	-	7	1429	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	TMEM130_uc011kiq.2_Missense_Mutation_p.E383K|TMEM130_uc011kir.2_Missense_Mutation_p.E402K|TMEM130_uc003upn.3_Missense_Mutation_p.E300K	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	414						Golgi membrane|integral to membrane		p.E402Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGAACAATTTCCAGGTACTCA	0.572000														56			40		0	0	0.006999	0	0
KIF27	55582	broad.mit.edu	37	9	86452022	86452022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:86452022G>A	uc004ana.3	-	17	4244	c.4100C>T	c.(4099-4101)tCc>tTc	p.S1367F	KIF27_uc010mpw.3_Missense_Mutation_p.S1301F|KIF27_uc010mpx.3_Missense_Mutation_p.S1270F	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1367					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTCCAAGGCGGAAATTTGACG	0.448000														15			23		0	0	0.003755	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999044	143999045	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:143999044_143999045GG>AA	uc003yxk.1	-	0	215_216	c.212_213CC>TT	c.(211-213)acc>aTT	p.T71I		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	71					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCCTGGAAGGTCTGGTGCAT	0.629000									Familial Hyperaldosteronism type I					45			51		0	0	0.004672	0	0
TMEM71	137835	broad.mit.edu	37	8	133740151	133740151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:133740151G>A	uc003ytn.3	-	5	741	c.512C>T	c.(511-513)tCc>tTc	p.S171F	TMEM71_uc003ytm.2_Missense_Mutation_p.S11F|TMEM71_uc003yto.3_Intron	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	190						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATGTGGCTGGAAGAGGAGGT	0.473000														58			14		0	0	0.003163	0	0
ATP8B1	5205	broad.mit.edu	37	18	55335748	55335748	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:55335748C>G	uc002lgw.3	-	18	2242	c.2122G>C	c.(2122-2124)Gac>Cac	p.D708H	LOC100505549_uc002lgu.2_3'UTR|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	708					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTAGCTTGTCTTCAATAGCT	0.358000														16			29		0	0	0.001512	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244405	1244405	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:1244405C>T	uc003jby.2	+	9	1536	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	471					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGGAGATTTTCGACAATTTTG	0.577000														120			67		0	0	0.003610	0	0
ZNF883	169834	broad.mit.edu	37	9	115760008	115760008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:115760008C>T	uc011lwy.2	-	4	1771	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TAGGATTTTTCCTCAGAATGA	0.403000														79			21		0	0	0.001882	0	0
LRP2	4036	broad.mit.edu	37	2	170097612	170097612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:170097612G>A	uc002ues.3	-	24	4144	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	LRP2_uc010zdf.1_Missense_Mutation_p.R1174C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1311	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTAGGACAGCGAAAGGGCTGA	0.517000														37			17		0	0	0.006122	0	0
OR3A2	4995	broad.mit.edu	37	17	3181518	3181518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3181518G>A	uc002fvg.3	-	0	751	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	238					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R238C(1)		ovary(1)	1						TCCACTGAACGGATTCGTAGA	0.522000														30			10		0	0	0.000978	0	0
PRB4	5545	broad.mit.edu	37	12	11461466	11461466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:11461466G>A	uc001qzf.1	-	2	485	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	PRB4_uc001qzt.3_Nonsense_Mutation_p.Q151*	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	214	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region		p.Q151E(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CCTTGGGACTGGTTACCTCCT	0.597000										HNSCC(22;0.051)				59			78		0	0	0.003610	0	0
SLC25A14	9016	broad.mit.edu	37	X	129480527	129480527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:129480527C>T	uc004evr.1	+	2	342	c.170C>T	c.(169-171)cCt>cTt	p.P57L	SLC25A14_uc010nrg.3_Missense_Mutation_p.P57L|SLC25A14_uc011mut.2_Missense_Mutation_p.P25L|SLC25A14_uc011muu.2_Missense_Mutation_p.P60L|SLC25A14_uc004evp.1_Missense_Mutation_p.P60L|SLC25A14_uc004evq.1_Missense_Mutation_p.P57L	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	60					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GGGACTTTCCCTGTGGACCTT	0.388000														97			33		0	0	0.005524	0	0
HCRTR1	3061	broad.mit.edu	37	1	32089168	32089168	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32089168C>T	uc009vtx.2	+	6	1168	c.783C>T	c.(781-783)ccC>ccT	p.P261P	HCRTR1_uc001btc.4_Silent_p.P175P|HCRTR1_uc001btd.2_Silent_p.P261P|HCRTR1_uc010ogl.2_Silent_p.P261P	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	261					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GGAAGCGCCCCTCAGACCAGC	0.657000														4			24		0	0	0.004656	0	0
SH2D4B	387694	broad.mit.edu	37	10	82403752	82403752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:82403752G>A	uc001kck.1	+	6	1419	c.989G>A	c.(988-990)gGa>gAa	p.G330E	SH2D4B_uc001kcl.1_Missense_Mutation_p.G282E|SH2D4B_uc001kcm.1_Missense_Mutation_p.E151K|SH2D4B_uc001kcn.1_Non-coding_Transcript	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	0	SH2.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GTTTTAGGAGGAAATTATCAC	0.393000														6			3		0	0	0.004672	0	0
HGS	9146	broad.mit.edu	37	17	79653362	79653362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:79653362C>T	uc002kbg.3	+	2	278	c.143C>T	c.(142-144)tCc>tTc	p.S48F	ARL16_uc002kbf.3_5'Flank|ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_Missense_Mutation_p.S48F	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	48	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCTGTGAATTCCATCAAGAAG	0.473000														29			12		0	0	0.001368	0	0
KRT13	3860	broad.mit.edu	37	17	39659198	39659198	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39659198G>A	uc002hwu.1	-	3	951	c.888C>T	c.(886-888)ttC>ttT	p.F296F	KRT13_uc002hwv.1_Silent_p.F296F|KRT13_uc010wfr.2_Silent_p.F189F|KRT13_uc010cxo.3_Silent_p.F296F|KRT13_uc021txk.1_Silent_p.F189F	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	296	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCTTGGTGTGGAACCATTCCT	0.647000														48			65		0	0	0.003610	0	0
OR52E8	390079	broad.mit.edu	37	11	5878068	5878068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5878068G>A	uc010qzr.2	-	0	865	c.865C>T	c.(865-867)Cca>Tca	p.P289S	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGCTGGTGGGACAACCACA	0.408000														40			31		0	0	0.004289	0	0
MAP3K13	9175	broad.mit.edu	37	3	185155407	185155407	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:185155407C>T	uc010hyf.3	+	3	939	c.648C>T	c.(646-648)atC>atT	p.I216I	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_5'UTR|MAP3K13_uc011bru.2_Silent_p.I72I|MAP3K13_uc003fpi.3_Silent_p.I216I|MAP3K13_uc010hyg.3_Intron	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	216	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCCTAACATCATCGCATTCA	0.408000														26			17		0	0	0.004990	0	0
GHRHR	2692	broad.mit.edu	37	7	31008745	31008745	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:31008745C>T	uc003tbx.3	+	2	276	c.228C>T	c.(226-228)ctC>ctT	p.L76L	GHRHR_uc003tby.3_5'Flank|GHRHR_uc003tbz.3_5'Flank	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	76					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GGGTCACCCTCCCCTGCCCGG	0.622000														5			6		0	0	0.001984	0	0
ILDR2	387597	broad.mit.edu	37	1	166926021	166926021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:166926021G>A	uc001gdx.2	-	2	504	c.448C>T	c.(448-450)Cca>Tca	p.P150S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	150	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGTCATCTGGGGTGGTGATA	0.438000														42			24		0	0	0.003330	0	0
DDX54	79039	broad.mit.edu	37	12	113617047	113617047	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:113617047G>A	uc001tuq.4	-	3	493	c.465C>T	c.(463-465)ttC>ttT	p.F155F	DDX54_uc001tup.3_Silent_p.F155F	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	155	Helicase ATP-binding.				RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGCCGCTCGAACATTGGGA	0.652000														39			14		0	0	0.004007	0	0
MRPL49	740	broad.mit.edu	37	11	64893060	64893061	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:64893060_64893061CC>TT	uc001oda.2	+	2	433_434	c.330_331CC>TT	c.(328-333)atccgg>atTTgg	p.R111W	MRPL49_uc021qle.1_Non-coding_Transcript|MRPL49_uc021qlf.1_Missense_Mutation_p.R49W	NM_004927	NP_004918	Q13405	RM49_HUMAN	Homo sapiens mitochondrial ribosomal protein L49 (MRPL49), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	111					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						TGACTGTGATCCGGAAAGTGGA	0.574000														30			46		0	0	0.004672	0	0
COL6A3	1293	broad.mit.edu	37	2	238277625	238277625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:238277625C>T	uc002vwl.2	-	9	4766	c.4481G>A	c.(4480-4482)aGa>aAa	p.R1494K	COL6A3_uc002vwo.2_Missense_Mutation_p.R1288K|COL6A3_uc010znj.1_Missense_Mutation_p.R887K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1494	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCCTGGGATCTGTAGGTTTT	0.547000														37			16		0	0	0.004007	0	0
ABCA13	154664	broad.mit.edu	37	7	48312175	48312175	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:48312175A>T	uc003toq.2	+	16	2936	c.2912A>T	c.(2911-2913)tAt>tTt	p.Y971F	ABCA13_uc010kyr.2_Missense_Mutation_p.Y474F|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	971					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTACCGATATATTTATGAA	0.294000														36			16		0	0	0.004007	0	0
VARS	7407	broad.mit.edu	37	6	31747479	31747479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:31747479G>A	uc003nxe.3	-	26	3617	c.3194C>T	c.(3193-3195)cCc>cTc	p.P1065L	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.P2L	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1065					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGTCACGAAGGGCATGAAGGG	0.642000														410			162		0	0	0.003610	0	0
MGC16703	113691	broad.mit.edu	37	22	21363463	21363463	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:21363463G>A	uc002zty.4	-	2		c.993C>T			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		TGGGACACTCGATGTCCAGGT	0.537000														61			12		0	0	0.001855	0	0
KIF21B	23046	broad.mit.edu	37	1	200956007	200956007	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200956007C>T	uc001gvs.2	-	25	3971	c.3654G>A	c.(3652-3654)acG>acA	p.T1218T	KIF21B_uc009wzl.2_Silent_p.T1218T|KIF21B_uc001gvr.2_Silent_p.T1218T|KIF21B_uc010ppn.2_Silent_p.T1218T	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1218					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTTCCTTCTCGTCAGCGGGG	0.547000														45			48		0	0	0.003610	0	0
OR8B2	26595	broad.mit.edu	37	11	124252919	124252919	+	Silent	SNP	G	A	A	rs2320234	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124252919G>A	uc010sai.2	-	0	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107F(2)|p.F106L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACGAAAAAGAGAA	0.398000														6			4		0	0	0.000602	0	0
STARD10	10809	broad.mit.edu	37	11	72466749	72466749	+	Silent	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:72466749G>T	uc001osy.3	-	5	811	c.627C>A	c.(625-627)ccC>ccA	p.P209P	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Silent_p.P209P|STARD10_uc001ota.3_Silent_p.P163P|STARD10_uc001otb.3_Silent_p.P209P	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	209	START.							p.A208T(1)		endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CACTCACCTTGGGAGCCAGGA	0.592000														221			8		0.00448238	0.00844099	0.004482	1	0
RUNX1T1	862	broad.mit.edu	37	8	92999153	92999153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:92999153C>T	uc022axs.1	-	7	1403	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D320N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D320N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D310N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D347N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D347N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D320N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D358N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D347N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D347N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D347N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D347N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D327N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D347N|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D310N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	347					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CATTCTCTGTCTGTTAGTCTG	0.388000														27			23		0	0	0.003954	0	0
PCDH10	57575	broad.mit.edu	37	4	134084268	134084268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:134084268G>A	uc003iha.3	+	3	3760	c.2934G>A	c.(2932-2934)atG>atA	p.M978I		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	978					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCCTGGCATGGACTCTGTTC	0.547000														17			22		0	0	0.002299	0	0
DOCK4	9732	broad.mit.edu	37	7	111448896	111448896	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:111448896G>A	uc003vfy.3	-	30	3524	c.3255C>T	c.(3253-3255)ttC>ttT	p.F1085F	DOCK4_uc003vfw.3_Silent_p.F490F|DOCK4_uc003vfx.3_Silent_p.F1049F|BC043243_uc003vfz.3_Intron	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1049					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	p.Q1085K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCCACATGCTGAAAATTTCAC	0.403000														7			8		0	0	0.006214	0	0
APLP1	333	broad.mit.edu	37	19	36361874	36361874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:36361874C>T	uc002oce.3	+	2	506	c.368C>T	c.(367-369)tCc>tTc	p.S123F	APLP1_uc010xsz.2_Missense_Mutation_p.S84F|APLP1_uc002ocf.3_Missense_Mutation_p.S123F|APLP1_uc002ocg.3_Missense_Mutation_p.S26F|APLP1_uc010xta.2_Missense_Mutation_p.S117F	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	123					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCGGGGGTTCCCGGAGCGGC	0.672000														9			4		0	0	0.000248	0	0
KIAA0319	9856	broad.mit.edu	37	6	24564560	24564560	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:24564560G>A	uc011djo.2	-	14	2801	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	KIAA0319_uc011djp.2_Silent_p.I722I|KIAA0319_uc003neh.1_Silent_p.I767I|KIAA0319_uc011djq.1_Silent_p.I758I|KIAA0319_uc011djr.1_Silent_p.I767I|KIAA0319_uc010jpt.1_Silent_p.I178I	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	767	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGAGCCATCGATGACATCCT	0.547000														24			12		0	0	0.003163	0	0
C6orf170	221322	broad.mit.edu	37	6	121436358	121436358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:121436358G>A	uc003pyo.1	-	26	3081	c.3013C>T	c.(3013-3015)Ctt>Ttt	p.L1005F	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_Missense_Mutation_p.L104F|C6orf170_uc003pyp.1_Missense_Mutation_p.L565F	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1005					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ACAGATGAAAGACTTTCATTC	0.328000														22			14		0	0	0.007413	0	0
OR51S1	119692	broad.mit.edu	37	11	4869964	4869964	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:4869964G>A	uc010qyo.2	-	0	475	c.475C>T	c.(475-477)Cga>Tga	p.R159*		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAGGCATCGAAAAGAAATG	0.542000														19			13		0	0	0.001855	0	0
CGNL1	84952	broad.mit.edu	37	15	57809019	57809019	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:57809019A>G	uc010bfw.3	+	9	2638	c.2445A>G	c.(2443-2445)caA>caG	p.Q815Q	CGNL1_uc002aeg.3_Silent_p.Q815Q	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	815						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTTCAGAGCAAGACCAGGCGG	0.532000														18			11		0	0	0.000978	0	0
OR2W1	26692	broad.mit.edu	37	6	29012249	29012249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:29012249C>T	uc003nlw.2	-	0	704	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q234Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CATTGCTTTTCGCTGGCTTGC	0.408000														58			29		0	0	0.001786	0	0
NDN	4692	broad.mit.edu	37	15	23931489	23931489	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:23931489G>A	uc001ywk.3	-	0	962	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	292	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTCTGTATCGGGAGGGCCAGG	0.587000									Prader-Willi syndrome					46			38		0	0	0.006999	0	0
CSMD3	114788	broad.mit.edu	37	8	113585887	113585887	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:113585887C>T	uc003ynu.3	-	24	4045	c.3886_splice	c.e24-1	p.I1296_splice	CSMD3_uc003yns.3_Splice_Site_p.I568_splice|CSMD3_uc003ynt.3_Splice_Site_p.I1256_splice|CSMD3_uc011lhx.2_Splice_Site_p.I1192_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1296	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCATAAATCTGCaaaatat	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				4			4		0	0	0.000248	0	0
TRPV6	55503	broad.mit.edu	37	7	142569475	142569475	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:142569475C>T	uc003wbx.2	-	14	2392	c.2163G>A	c.(2161-2163)tgG>tgA	p.W721*	TRPV6_uc003wbw.1_Nonsense_Mutation_p.W507*|TRPV6_uc010lou.1_Nonsense_Mutation_p.W592*	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	721					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCTGATATTCCCAGCTCTCCC	0.537000														127			46		0	0	0.003610	0	0
AKAP4	8852	broad.mit.edu	37	X	49958661	49958661	+	Missense_Mutation	SNP	C	T	T	rs147442985		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:49958661C>T	uc004dow.1	-	4	827	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	AKAP4_uc004dou.1_Missense_Mutation_p.E226K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.E57K	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	235					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.E235K(2)		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)					TCCTTGATTTCCTTATGGGCC	0.458000														37			20		0	0	0.001523	0	0
MUC2	4583	broad.mit.edu	37	11	1096416	1096416	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:1096416G>A	uc001lsx.1	+	35	6456	c.6429G>A	c.(6427-6429)gaG>gaA	p.E2143E		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4509						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCTGGTGGAGGAGATCAGCC	0.607000														89			20		0	0	0.001882	0	0
ITM2C	81618	broad.mit.edu	37	2	231740398	231740398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:231740398C>T	uc002vqz.3	+	2	445	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	ITM2C_uc002vra.3_Missense_Mutation_p.R62W|ITM2C_uc002vrb.3_Missense_Mutation_p.R109W|ITM2C_uc002vrc.3_5'UTR|ITM2C_uc002vrd.3_5'UTR	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	109					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTCCCAGGTCCGGACTCAGAT	0.582000														131			54		0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228451839	228451839	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:228451839G>A	uc009xez.1	+	15	4652	c.4608G>A	c.(4606-4608)aaG>aaA	p.K1536K	OBSCN_uc001hsn.3_Silent_p.K1536K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1536	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTTTGCCAAGGAGCAGCCAG	0.657000														47			23		0	0	0.003330	0	0
ZBTB47	92999	broad.mit.edu	37	3	42705342	42705342	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:42705342C>T	uc003clu.2	+	4	2072	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	Homo sapiens zinc finger and BTB domain containing 47 (ZBTB47), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ACATGAGCATCCACATTGGCC	0.562000														20			12		0	0	0.000978	0	0
APOH	350	broad.mit.edu	37	17	64210721	64210721	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:64210721C>A	uc002jfn.4	-	6	891	c.832G>T	c.(832-834)Gag>Tag	p.E278*		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	278	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTTACTCTCTCTCCTTGGTAC	0.358000														60			19		5.35267e-07	1.01558e-06	0.007413	1	0
OR5J2	282775	broad.mit.edu	37	11	55944718	55944718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:55944718G>A	uc010rjb.2	+	0	625	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M208I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CATTGCCATGGCCACCTTCTT	0.478000														29			12		0	0	0.001368	0	0
MUC17	140453	broad.mit.edu	37	7	100682653	100682653	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:100682653C>T	uc003uxp.1	+	2	8009	c.7956C>T	c.(7954-7956)acC>acT	p.T2652T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2652	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)					AGGCTAGCACCCTTTCAACAA	0.473000														103			107		0	0	0.003610	0	0
OR8B8	26493	broad.mit.edu	37	11	124310640	124310640	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:124310640G>A	uc010sal.2	-	0	342	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTGCTGACAGGATGAAGGACT	0.468000														33			6		0	0	0.001168	0	0
CADPS	8618	broad.mit.edu	37	3	62385167	62385167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:62385167C>T	uc003dll.2	-	29	4336	c.3976G>A	c.(3976-3978)Gaa>Aaa	p.E1326K	CADPS_uc003dlj.1_Missense_Mutation_p.E281K|CADPS_uc003dlk.1_Missense_Mutation_p.E774K|CADPS_uc003dlm.2_Missense_Mutation_p.E1287K|CADPS_uc003dln.2_Missense_Mutation_p.E1247K|CADPS_uc021wzv.1_Missense_Mutation_p.E1317K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1326	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCTGTGGCTTCCTCCACAGTG	0.507000														23			12		0	0	0.001368	0	0
CCR10	2826	broad.mit.edu	37	17	40831617	40831617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40831617G>A	uc002iax.4	-	1	1047	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc002iaw.2_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	Homo sapiens chemokine (C-C motif) receptor 10 (CCR10), mRNA.	348						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGCTGAGCAGGAAGAAAggcg	0.697000														30			14		0	0	0.004007	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607508	55607508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:55607508G>A	uc002qix.3	-	7	1080	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	PPP1R12C_uc010yfs.2_Missense_Mutation_p.S281F|PPP1R12C_uc002qiy.3_Missense_Mutation_p.S355F|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	355						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GTCCTGGAGGGAAATCTTCTC	0.682000														57			20		0	0	0.003330	0	0
SPEF2	79925	broad.mit.edu	37	5	35709050	35709050	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:35709050T>C	uc003jjo.3	+	19	2777	c.2666_splice	c.e19-1	p.V889_splice	SPEF2_uc003jjq.4_Splice_Site_p.V884_splice|SPEF2_uc003jjp.1_Splice_Site_p.V375_splice	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	889					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTTGAAGTTGAGAAGAAA	0.378000														8			9		0	0	0.000978	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175752	143175752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:143175752G>A	uc003wdc.1	+	0	787	c.787G>A	c.(787-789)Gac>Aac	p.D263N	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	263					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATGCAGAACGACTTTTACTG	0.473000														27			18		0	0	0.001523	0	0
NR5A2	2494	broad.mit.edu	37	1	200090049	200090049	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:200090049C>T	uc001gvb.3	+	6	1550	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	NR5A2_uc001gvc.3_Silent_p.F402F|NR5A2_uc009wzh.3_Silent_p.F408F|NR5A2_uc010pph.2_Silent_p.F376F	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	448					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACGAGAGTTCGTATGTCTGA	0.413000														46			13		0	0	0.002450	0	0
UPRT	139596	broad.mit.edu	37	X	74523298	74523298	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:74523298T>C	uc004ecb.2	+	6	1078	c.882T>C	c.(880-882)caT>caC	p.H294H	UPRT_uc004ecc.2_Non-coding_Transcript|UPRT_uc004ecd.2_3'UTR	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	Homo sapiens uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (UPRT), transcript variant 1, mRNA.	294					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CTGAAGTTCATCCTGTTGCAC	0.294000														11			15		0	0	0.003163	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45668210	45668210	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:45668210C>T	uc002paw.3	-	2	190	c.171G>A	c.(169-171)ctG>ctA	p.L57L	TRAPPC6A_uc002pav.3_Silent_p.L71L			O75865	TPC6A_HUMAN	Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA.	57					vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CCCTGAAGGCCAGCGTCTCCC	0.632000														56			64		0	0	0.003610	0	0
GPR152	390212	broad.mit.edu	37	11	67219664	67219664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:67219664C>T	uc001olm.3	-	0	537	c.532G>A	c.(532-534)Gac>Aac	p.D178N	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ATGACCAGGTCGTACCACCAG	0.662000														29			53		0	0	0.003610	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024710	16024710	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:16024710G>A	uc002nbu.2	-	12	1443	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F11_uc010eab.1_Missense_Mutation_p.R448W|CYP4F11_uc002nbt.2_Silent_p.I469I	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	469					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACGCCTGCCCGATGCAGTTTC	0.627000														12			7		0	0	0.003080	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400739	11400739	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:11400739G>A	uc003gmq.3	-	1	1214	c.891C>T	c.(889-891)ttC>ttT	p.F297F	HS3ST1_uc021xmg.1_Silent_p.F297F	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	297						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CAACAAGCTCGAAGAACTTCT	0.443000														69			48		0	0	0.003610	0	0
NDUFS8	4728	broad.mit.edu	37	11	67803945	67803946	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:67803945_67803946TC>GT	uc001onc.3	+	6	635_636	c.518_519TC>GT	c.(517-519)ttc>tGT	p.F173C	NDUFS8_uc009ysb.2_Non-coding_Transcript|TCIRG1_uc001ond.2_5'Flank|TCIRG1_uc001one.3_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) (NDUFS8), nuclear gene encoding mitochondrial protein, mRNA.	173					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	AACTTTGAGTTCTCCACGGAGA	0.634000														31			9		0	0	0.004672	0	0
SERPINB12	89777	broad.mit.edu	37	18	61232780	61232780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:61232780G>A	uc010xeo.2	+	5	808	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	SERPINB12_uc010xen.2_Missense_Mutation_p.G250R	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	250					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GTACACCAAGGGGAAGCTCAG	0.438000														33			10		0	0	0.001368	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433955	37433955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:37433955G>A	uc021ppc.1	+	7	1357	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E420K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E419E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAACAAGAGGAAGATGAAGA	0.264000														21			17		0	0	0.001523	0	0
COL7A1	1294	broad.mit.edu	37	3	48615933	48615934	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:48615933_48615934GG>AA	uc003ctz.2	-	62	5440_5441	c.5439_5440CC>TT	c.(5437-5442)ctccgt>ctTTgt	p.R1814C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1814	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTTCTCCACGGAGGCCTGGAA	0.550000														89			41		0	0	0.004672	0	0
COL27A1	85301	broad.mit.edu	37	9	117062389	117062389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:117062389C>T	uc011lxl.2	+	49	4624	c.4624C>T	c.(4624-4626)Ctc>Ttc	p.L1542F	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1542	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AATGGCAGGTCTCTTCGGACC	0.542000														63			37		0	0	0.007835	0	0
ADNP2	22850	broad.mit.edu	37	18	77896377	77896377	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr18:77896377G>A	uc002lnw.3	+	3	3536	c.3081G>A	c.(3079-3081)gaG>gaA	p.E1027E		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1027					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GCAGAACAGAGGGACCTATTG	0.428000														59			23		0	0	0.003954	0	0
ZNF823	55552	broad.mit.edu	37	19	11836079	11836079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11836079G>A	uc002msm.2	-	1	193	c.67C>T	c.(67-69)Cca>Tca	p.P23S	ZNF823_uc010xmd.1_5'UTR|ZNF823_uc010dyi.1_Intron	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTGTGATGGACCCAGCAAA	0.463000										HNSCC(68;0.2)				57			22		0	0	0.003330	0	0
HTT	3064	broad.mit.edu	37	4	3174062	3174062	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:3174062C>T	uc021xkv.1	+	29	4025	c.3880C>T	c.(3880-3882)Cta>Tta	p.L1294L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1294					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGAAGAGATCCTAGGATACCT	0.398000														43			33		0	0	0.003271	0	0
RNF112	7732	broad.mit.edu	37	17	19317456	19317456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:19317456G>A	uc010vyw.2	+	6	1105	c.874G>A	c.(874-876)Gag>Aag	p.E292K	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.E175K	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	292							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGACTATCTGGAGGTAAAGAG	0.562000														46			18		0	0	0.001216	0	0
PGBD4	161779	broad.mit.edu	37	15	34395113	34395113	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:34395113A>C	uc001zho.3	+	0	840	c.381A>C	c.(379-381)caA>caC	p.Q127H	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	127										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CAAATGCCCAAGCTGCCTTGT	0.408000														64			55		0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104089423	104089423	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:104089423C>T	uc001tjw.3	+	31	3657	c.3471C>T	c.(3469-3471)atC>atT	p.I1157I		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1157	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGGCTACATCATTGCAAGTA	0.502000														30			40		0	0	0.001951	0	0
HSPG2	3339	broad.mit.edu	37	1	22165414	22165414	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:22165414A>C	uc009vqd.3	-	73	10097	c.10057T>G	c.(10057-10059)Ttt>Gtt	p.F3353V	HSPG2_uc001bfj.3_Missense_Mutation_p.F3352V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3352	Ig-like C2-type 19.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCACGCTCAAAGTGCAGCAGC	0.672000														2			23		0	0	0.003330	0	0
ITPR3	3710	broad.mit.edu	37	6	33656527	33656527	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:33656527C>T	uc021ywr.1	+	48	6887	c.6663C>T	c.(6661-6663)ttC>ttT	p.F2221F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2221					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCATTGCCTTCTTCTACCCTT	0.607000														69			22		0	0	0.003330	0	0
OR1E1	8387	broad.mit.edu	37	17	3301037	3301037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3301037G>A	uc002fvj.1	-	0	668	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GAGGATGGAGGAGACAATTCT	0.468000														34			10		0	0	0.007413	0	0
HCN1	348980	broad.mit.edu	37	5	45262127	45262127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:45262127G>A	uc003jok.3	-	7	2594	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	857	Poly-Pro.			P -> L (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTGCTGGAGGGACTCCTCGG	0.597000														124			52		0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8518238	8518238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:8518238G>A	uc003zkk.3	-	20	1896	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	PTPRD_uc003zkp.3_Missense_Mutation_p.P385S|PTPRD_uc003zkq.3_Missense_Mutation_p.P385S|PTPRD_uc003zkr.3_Missense_Mutation_p.P379S|PTPRD_uc003zks.3_Missense_Mutation_p.P375S|PTPRD_uc022bdj.1_Missense_Mutation_p.P382S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	385	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCGAGTAGGGACTTAGTCCA	0.463000										TSP Lung(15;0.13)				12			9		0	0	0.000673	0	0
PRSS58	136541	broad.mit.edu	37	7	141955355	141955356	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141955355_141955356GG>AA	uc003vxb.3	-	2	499	c.179_splice	c.e2+1	p.P60_splice	PRSS58_uc003vxc.4_Splice_Site_p.P60_splice	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P60R(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATCACTCACGGTAAATTGCAG	0.500000														12			12		0	0	0.004672	0	0
CCDC144C	348254	broad.mit.edu	37	17	20266359	20266359	+	RNA	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:20266359C>T	uc010cqy.1	+	10		c.2561C>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						AAAAGGAATCCTGAGGTATTT	0.313000														6			15		0	0	0.002450	0	0
PRSS37	136242	broad.mit.edu	37	7	141539279	141539279	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:141539279C>T	uc003vws.2	-	2	407	c.35_splice	c.e2-1	p.G12_splice	PRSS37_uc011krl.2_Splice_Site_p.G12_splice|PRSS37_uc011krk.2_Intron|PRSS37_uc003vwt.2_Splice_Site	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	12					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GAAAAATGTCCCTGAGAAAAT	0.368000														12			15		0	0	0.004007	0	0
C2orf65	130951	broad.mit.edu	37	2	74834299	74834299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:74834299C>T	uc002smy.3	-	3	595	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	C2orf65_uc010ysa.2_Missense_Mutation_p.E160K|C2orf65_uc002smz.2_Missense_Mutation_p.E160K	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	160					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						TTCAACCCTTCCTCCAACTGT	0.453000														63			24		0	0	0.001786	0	0
OSCP1	127700	broad.mit.edu	37	1	36888417	36888417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:36888417C>T	uc001caq.3	-	5	817	c.701G>A	c.(700-702)gGt>gAt	p.G234D	OSCP1_uc021olk.1_Missense_Mutation_p.G244D	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	244					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TTCAAAAGAACCTTCTTTGGG	0.398000														1			25		0	0	0.005443	0	0
DNAH9	1770	broad.mit.edu	37	17	11568234	11568234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:11568234G>A	uc002gne.3	+	14	2748	c.2680G>A	c.(2680-2682)Gga>Aga	p.G894R	DNAH9_uc010coo.3_Missense_Mutation_p.G188R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	894	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)		GTTGCTGAATGGATTCTTTCT	0.383000														84			25		0	0	0.004656	0	0
TLK2	11011	broad.mit.edu	37	17	60685476	60685476	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:60685476C>T	uc010ddp.3	+	21	2380	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	TLK2_uc002izx.4_Silent_p.F530F|TLK2_uc002izz.4_Silent_p.F682F|TLK2_uc002jaa.4_Silent_p.F650F|TLK2_uc010wpd.2_Silent_p.F650F	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	704	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAGTGCAGTTCCCGCCAAAGC	0.408000														38			16		0	0	0.006122	0	0
ALB	213	broad.mit.edu	37	4	74276105	74276105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:74276105G>A	uc003hgs.4	+	5	765	c.692G>A	c.(691-693)gGa>gAa	p.G231E	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.G121E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	231	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAAAAATTTGGAGAAAGAGCT	0.358000														36			40		0	0	0.007835	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163835	150163835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:150163835G>A	uc003whj.3	+	1	379	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	17						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.G17E(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCTCCTCCTGGGAAAATGCCG	0.507000														19			20		0	0	0.007413	0	0
ENAM	10117	broad.mit.edu	37	4	71508454	71508454	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:71508454G>A	uc011caw.1	+	8	1592	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	437					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAATCCAAAGGAGAAGCCCC	0.443000														6			8		0	0	0.006214	0	0
ABCC6	368	broad.mit.edu	37	16	16280986	16280986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:16280986C>T	uc002den.4	-	13	1899	c.1862G>A	c.(1861-1863)gGa>gAa	p.G621E	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.G633E	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	621					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCACCGCTTCCAGAGGAACT	0.612000											OREG0023640	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			6		0	0	0.001168	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732424	138732424	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:138732424G>A	uc003vun.3	-	12	3013	c.2625C>T	c.(2623-2625)tcC>tcT	p.S875S		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	875	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGACAAAAACGGAGGGATTCG	0.428000														58			60		0	0	0.003610	0	0
RELL2	285613	broad.mit.edu	37	5	141019574	141019574	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:141019574G>A	uc003lli.3	+	5	1439	c.591G>A	c.(589-591)ggG>ggA	p.G197G	RELL2_uc003llh.3_Silent_p.G197G|FCHSD1_uc010jgg.3_3'UTR|FCHSD1_uc003llj.3_Non-coding_Transcript|FCHSD1_uc003llk.3_3'UTR	NM_001130029	NP_776189	Q8NC24	RELL2_HUMAN	Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA.	197						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGGTGGGGGACAGGACC	0.677000														45			23		0	0	0.002780	0	0
ABAT	18	broad.mit.edu	37	16	8873393	8873393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:8873393G>A	uc002czc.4	+	14	1493	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	ABAT_uc002czd.4_Missense_Mutation_p.D443N|ABAT_uc010buh.3_Missense_Mutation_p.D385N|ABAT_uc010bui.3_Missense_Mutation_p.D443N|ABAT_uc021tcs.1_5'Flank	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	443					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTGCTCCTTCGATACTCCCGA	0.522000														29			30		0	0	0.004878	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918360	48918360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:48918360G>A	uc002isv.4	+	1	2405	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	WFIKKN2_uc010dbu.3_Missense_Mutation_p.E478K	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	571						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGTCCTCAAGGAGTTTCTTGG	0.622000														63			24		0	0	0.006320	0	0
KCNB2	9312	broad.mit.edu	37	8	73480001	73480001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:73480001G>A	uc003xzb.3	+	1	620	c.32G>A	c.(31-33)aGg>aAg	p.R11K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	11					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)			GGCTTAAACAGGAAGACTTCA	0.507000														18			17		0	0	0.001523	0	0
LEPR	3953	broad.mit.edu	37	1	66067284	66067284	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:66067284C>T	uc001dci.3	+	8	1593	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	LEPR_uc001dcg.3_Nonsense_Mutation_p.R402*|LEPR_uc001dch.3_Nonsense_Mutation_p.R402*|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Nonsense_Mutation_p.R402*|LEPR_uc001dcj.3_Nonsense_Mutation_p.R402*|LEPR_uc001dck.3_Nonsense_Mutation_p.R402*	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	402	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AACCAAACCTCGAGGAAAGTT	0.368000														1			36		0	0	0.003271	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838665	43838665	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:43838665G>A	uc002zbe.3	+	6	1077	c.993G>A	c.(991-993)ctG>ctA	p.L331L	UBASH3A_uc002zbf.3_Silent_p.L293L|UBASH3A_uc010gpe.3_Silent_p.L293L|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	331	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGGGCTTCCTGCCGGAAAACT	0.612000														40			12		0	0	0.002450	0	0
MED25	81857	broad.mit.edu	37	19	50333429	50333429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:50333429C>T	uc002ppw.2	+	6	836	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_Missense_Mutation_p.S39L	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	258	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCCACTCTCTCAGCAGCCCCC	0.677000														21			9		0	0	0.004482	0	0
TGM7	116179	broad.mit.edu	37	15	43574238	43574238	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:43574238C>T	uc001zrf.1	-	8	1160	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	385					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGTGGACATCCCCTTCCCTGA	0.602000														22			29		0	0	0.001512	0	0
ADPRH	141	broad.mit.edu	37	3	119306719	119306719	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:119306719C>T	uc003ecs.3	+	4	1366	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	ADPRH_uc010hqv.3_Silent_p.S356S|ADPRH_uc011bjb.2_Silent_p.S249S|ADPRH_uc003ect.3_Silent_p.S356S	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	356					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTGTAATTTCCCTTTAGGGAG	0.398000														95			30		0	0	0.002836	0	0
ITIH4	3700	broad.mit.edu	37	3	52848316	52848316	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52848316G>A	uc011bem.2	-	21	2578	c.2550C>T	c.(2548-2550)atC>atT	p.I850I	AX746575_uc003dfw.1_5'Flank|ITIH4_uc011bel.2_Silent_p.I559I|ITIH4_uc003dfy.3_Silent_p.I640I|ITIH4_uc003dfz.3_Silent_p.I845I|ITIH4_uc011ben.2_Silent_p.I815I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	845					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAACAGGCCGATGGTCACTT	0.592000														99			45		0	0	0.003610	0	0
AOX1	316	broad.mit.edu	37	2	201460080	201460080	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:201460080C>T	uc002uvx.3	+	2	290	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	63	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACCCCATCACCAAGAGGATAA	0.398000														14			6		0	0	0.001168	0	0
C19orf75	284369	broad.mit.edu	37	19	51768857	51768857	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51768857G>A	uc002pwb.1	+	2	639	c.258G>A	c.(256-258)ggG>ggA	p.G86G	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	86						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TCTGTGAGGGGAAGAACCAAA	0.557000														36			68		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13911581	13911581	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:13911581T>C	uc003jfd.2	-	11	1600	c.1558A>G	c.(1558-1560)Aaa>Gaa	p.K520E	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	520	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTCCTTTTTCTTTATGGTT	0.313000									Kartagener syndrome					13			20		0	0	0.001523	0	0
LAIR1	3903	broad.mit.edu	37	19	54872608	54872608	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:54872608T>C	uc002qfk.1	-	2	589	c.279A>G	c.(277-279)gaA>gaG	p.E93E	LAIR1_uc002qfl.1_Silent_p.E93E|LAIR1_uc002qfm.1_Silent_p.E92E|LAIR1_uc002qfn.1_Silent_p.E92E|LAIR1_uc010yex.2_Silent_p.E86E|LAIR1_uc002qfo.3_Silent_p.E75E	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	93	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity	p.S92R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CGGCATTTCCTTCACTTACTG	0.493000														170			72		0	0	0.003610	0	0
GSG2	83903	broad.mit.edu	37	17	3628186	3628186	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:3628186C>T	uc002fwp.3	+	0	990	c.957C>T	c.(955-957)ccC>ccT	p.P319P	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	319					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CCAGTGTTCCCAAGGGCCGCA	0.567000														28			39		0	0	0.005524	0	0
KRT6B	3854	broad.mit.edu	37	12	52845482	52845482	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:52845482G>A	uc001sak.3	-	0	429	c.381C>T	c.(379-381)ttC>ttT	p.F127F		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	127	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGCACACAGGGAAGCCAGGGC	0.647000														40			33		0	0	0.003271	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40653289	40653289	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:40653289C>T	uc002hzs.3	+	16	2159	c.1992C>T	c.(1990-1992)gtC>gtT	p.V664V	ATP6V0A1_uc002hzr.3_Silent_p.V657V|ATP6V0A1_uc002hzq.3_Silent_p.V657V|ATP6V0A1_uc010wgj.2_Silent_p.V614V|ATP6V0A1_uc010wgk.2_Silent_p.V614V|ATP6V0A1_uc010cyg.3_Silent_p.V303V|ATP6V0A1_uc010wgl.2_Silent_p.V516V	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	657					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AACCATTGGTCCTTCGCCGTC	0.413000														48			18		0	0	0.006122	0	0
PRG4	10216	broad.mit.edu	37	1	186277471	186277471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:186277471G>A	uc001gru.4	+	6	2671	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.D833N|PRG4_uc009wyl.3_Missense_Mutation_p.D781N|PRG4_uc009wym.3_Missense_Mutation_p.D740N|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	874					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAAAGCCCTGATGAATCAAC	0.507000														138			46		0	0	0.003214	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807286	15807286	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:15807286C>A	uc002nbl.3	+	11	1480	c.1361C>A	c.(1360-1362)tCa>tAa	p.S454*		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.S454P(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AAGGGGAGGTCACCTCTGGCT	0.557000														144			38		4.42602e-33	8.50453e-33	0.001951	1	0
MACF1	23499	broad.mit.edu	37	1	39815239	39815239	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:39815239C>T	uc021olw.1	+	5	6225	c.6225C>T	c.(6223-6225)caC>caT	p.H2075H	MACF1_uc021ols.1_Silent_p.H1573H|MACF1_uc001cdc.2_Silent_p.H1573H|MACF1_uc021olt.1_Silent_p.H1573H|MACF1_uc001cda.1_Silent_p.H1481H|MACF1_uc001cdb.1_Silent_p.H660H	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3640					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGCAGGCCACCAAGGCAGAA	0.473000														17			8		0	0	0.004482	0	0
TMEM246	84302	broad.mit.edu	37	9	104238337	104238337	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:104238337C>T	uc004bbm.3	-	1	1360	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.R346R	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	346						integral to membrane											AGGTGAGGGTCCGGCGGGCCG	0.617000														29			8		0	0	0.006214	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684064	3684064	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:3684064G>A	uc002wja.3	-	4	1008	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	SIGLEC1_uc002wiz.4_Silent_p.I336I|SIGLEC1_uc002wjc.3_Silent_p.I247I	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	336	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			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						GGTTCTCCAGGATGGGACCTG	0.597000														63			17		0	0	0.007413	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883067	228883067	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:228883067G>A	uc002vpq.2	-	6	2550	c.2503C>T	c.(2503-2505)Ctg>Ttg	p.L835L	SPHKAP_uc002vpp.2_Silent_p.L835L|SPHKAP_uc010zlx.1_Silent_p.L835L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	835						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTCCTTTCAGATATATTTCC	0.493000														42			27		0	0	0.005443	0	0
RIPK4	54101	broad.mit.edu	37	21	43161697	43161697	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr21:43161697G>A	uc002yzn.1	-	7	1704	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	552						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGATGCGCACGATATTCTCCT	0.667000														26			34		0	0	0.002836	0	0
ADAR	103	broad.mit.edu	37	1	154569431	154569431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:154569431G>A	uc001ffh.3	-	5	2362	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	ADAR_uc021pag.1_Missense_Mutation_p.S412F|ADAR_uc001ffj.3_Intron|ADAR_uc001ffi.3_Missense_Mutation_p.S707F|ADAR_uc001ffk.3_Missense_Mutation_p.S412F	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	707					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGGCATCATGGATTCCAAGTT	0.493000														28			17		0	0	0.001882	0	0
TRPM5	29850	broad.mit.edu	37	11	2444165	2444165	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:2444165C>T	uc010qxl.2	-	0	111	c.102G>A	c.(100-102)ggG>ggA	p.G34G	TRPM5_uc001lwm.4_Silent_p.G34G|TRPM5_uc009ydn.3_Silent_p.G34G	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	34						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCGCTTCTTCCCAGACCCTC	0.647000														169			173		0	0	0.003610	0	0
BAI2	576	broad.mit.edu	37	1	32193866	32193867	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32193866_32193867GG>AA	uc001btn.3	-	30	4785_4786	c.4431_4432CC>TT	c.(4429-4434)acccgg>acTTgg	p.R1478W	BAI2_uc010ogn.2_Missense_Mutation_p.R448W|BAI2_uc010ogo.2_Missense_Mutation_p.R1087W|BAI2_uc010ogp.2_Missense_Mutation_p.R1411W|BAI2_uc010ogq.2_Missense_Mutation_p.R1444W|BAI2_uc001bto.3_Missense_Mutation_p.R1477W|BAI2_uc001btp.1_Missense_Mutation_p.R472W	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1478					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGCCGTTTCCGGGTGTGCATCA	0.639000														15			16		0	0	0.004672	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44174346	44174346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr20:44174346C>T	uc010zxc.2	-	1	224	c.155G>A	c.(154-156)aGa>aAa	p.R52K	SPINLW1-WFDC6_uc002xou.3_Missense_Mutation_p.R52K|SPINLW1-WFDC6_uc002xov.2_Missense_Mutation_p.R52K	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	52						extracellular region	serine-type endopeptidase inhibitor activity										CTGGCATTGTCTGTCCTTTGT	0.433000														24			24		0	0	0.004656	0	0
CES5A	221223	broad.mit.edu	37	16	55886903	55886903	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:55886903T>G	uc021tir.1	-	10	1396	c.1250A>C	c.(1249-1251)gAa>gCa	p.E417A	CES5A_uc002eip.2_Missense_Mutation_p.E388A|CES5A_uc002eio.2_Missense_Mutation_p.E388A|CES5A_uc002eiq.2_Missense_Mutation_p.E149A|CES5A_uc002eir.2_Missense_Mutation_p.E282A	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	388						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATGGAAGTATTCATTAGCCAC	0.473000														13			25		0	0	0.007291	0	0
PNOC	5368	broad.mit.edu	37	8	28196901	28196901	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:28196901G>A	uc010lva.2	+	2	679	c.471G>A	c.(469-471)ttG>ttA	p.L157L	PNOC_uc003xgp.3_Silent_p.L157L|PNOC_uc011lau.1_Silent_p.L93L	NM_006228	NP_006219	Q13519	PNOC_HUMAN	Homo sapiens prepronociceptin (PNOC), mRNA.	157					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GGCAATACTTGGTCCTGAGCA	0.602000														43			30		0	0	0.003755	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299075	125299075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:125299075C>T	uc004euk.2	-	0	1006	c.833G>A	c.(832-834)gGa>gAa	p.G278E		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	278										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGACACCGCTCCCAGCTCCTG	0.637000														60			28		0	0	0.002096	0	0
SLU7	10569	broad.mit.edu	37	5	159834579	159834579	+	Silent	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:159834579T>A	uc003lyg.3	-	10	1184	c.1029A>T	c.(1027-1029)ctA>ctT	p.L343L		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	343					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCTGCCTGTAGATGCACTT	0.398000														34			11		0	0	0.000978	0	0
CARD10	29775	broad.mit.edu	37	22	37887776	37887776	+	Silent	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr22:37887776A>G	uc003asx.1	-	18	2867	c.2850T>C	c.(2848-2850)aaT>aaC	p.N950N	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asu.1_Missense_Mutation_p.M1T|CARD10_uc003asv.1_Missense_Mutation_p.M1T|CARD10_uc011ank.1_Silent_p.N268N|CARD10_uc003asw.1_Silent_p.N664N|CARD10_uc003asy.1_Silent_p.N950N	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	950					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTCCCGGACATTCTTCTCAG	0.627000														41			12		0	0	0.002450	0	0
PMS2P5	5383	broad.mit.edu	37	7	74312595	74312595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:74312595G>A	uc003ubl.2	+	3	369	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	PMS2P5_uc003ubk.2_Intron|PMS2P5_uc010lbw.2_Intron|PMS2P5_uc003ubm.4_Intron					Homo sapiens postmeiotic segregation increased 2 pseudogene 5 (PMS2P5), transcript variant 1, non-coding RNA.																		TTTGGCTTTCGGGGGGAAGCT	0.403000														36			38		0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52547920	52547920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:52547920G>A	uc003dej.3	+	31	3444	c.3370G>A	c.(3370-3372)Gat>Aat	p.D1124N		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1124					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCCCGAGGGGATGTGCCCGG	0.627000														77			144		0	0	0.003610	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802818	96802818	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:96802818C>T	uc001kkb.3	-	6	1073	c.978G>A	c.(976-978)gaG>gaA	p.E326E	CYP2C8_uc010qoa.2_Silent_p.E256E|CYP2C8_uc010qoc.2_Silent_p.E224E|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.E240E|CYP2C8_uc021pwl.1_Silent_p.E256E|CYP2C8_uc010qod.1_Silent_p.E240E	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	326					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.E326D(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CATGATCAATCTCTTCCTGGA	0.438000														23			17		0	0	0.001882	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800709	70800709	+	Missense_Mutation	SNP	C	T	T	rs146773920	by1000genomes	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:70800709C>T	uc003tvy.3	+	1	412	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	138						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGGATTATCGTCCCACCAA	0.463000														34			7		0	0	0.006214	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521049	33521049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:33521049G>A	uc002hjd.2	-	0	364	c.278C>T	c.(277-279)cCc>cTc	p.P93L		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	93	DUF6 1.					integral to membrane											TCCCAGAAGGGGGTCGCCACG	0.592000														97			142		0	0	0.003610	0	0
FBP1	2203	broad.mit.edu	37	9	97382635	97382635	+	Silent	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:97382635G>T	uc004auw.4	-	1	640	c.309C>A	c.(307-309)gcC>gcA	p.A103A	FBP1_uc010mrl.3_Silent_p.A103A	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	103					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CCACTATGATGGCGTGTTTAT	0.458000														91			5		0.00116845	0.00220743	0.001168	1	0
UNC79	57578	broad.mit.edu	37	14	94109963	94109963	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:94109963C>T	uc001ybv.1	+	32	5699	c.5616C>T	c.(5614-5616)atC>atT	p.I1872I	UNC79_uc001ybs.1_Silent_p.I1850I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2027						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCTAGCCATCGTGGTCCTCT	0.488000														41			25		0	0	0.003954	0	0
SOX13	9580	broad.mit.edu	37	1	204085649	204085649	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:204085649C>T	uc001ham.3	+	4	1028	c.433C>T	c.(433-435)Cta>Tta	p.L145L	SOX13_uc001hal.3_Silent_p.L145L|SOX13_uc010pqp.2_Silent_p.L145L|SOX13_uc010pqq.2_Silent_p.L12L	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	145					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAAGAGAGCCTAGCAGAGAA	0.527000														64			25		0	0	0.006320	0	0
SAFB	6294	broad.mit.edu	37	19	5653265	5653265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:5653265C>T	uc002mcg.3	+	9	1604	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	SAFB_uc002mcf.3_Missense_Mutation_p.S478F|SAFB_uc002mce.4_Missense_Mutation_p.S478F|SAFB_uc010xis.2_Missense_Mutation_p.S409F|SAFB_uc010xit.2_Missense_Mutation_p.S321F|SAFB_uc010xir.2_Missense_Mutation_p.S478F|SAFB_uc010xiu.2_Missense_Mutation_p.S277F	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	478	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAGATGATCTCCGTGGAGAAA	0.478000														43			44		0	0	0.003214	0	0
LRRN2	10446	broad.mit.edu	37	1	204587153	204587153	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:204587153C>T	uc021phy.1	-	0	1968	c.1968G>A	c.(1966-1968)agG>agA	p.R656R	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.R656R|LRRN2_uc001hbf.1_Silent_p.R656R|LRRN2_uc009xbf.1_Silent_p.R656R|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	656					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCACACCCTTCCTGGGTTGGC	0.672000														33			35		0	0	0.002836	0	0
NLK	51701	broad.mit.edu	37	17	26370197	26370197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:26370197G>A	uc010crj.3	+	0	510	c.298G>A	c.(298-300)Ggg>Agg	p.G100R		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	100					Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACCGGCACCGGGGCAGGCTCC	0.627000														31			9		0	0	0.004482	0	0
AKNA	80709	broad.mit.edu	37	9	117106048	117106048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:117106048G>A	uc004biq.3	-	17	3832	c.3697C>T	c.(3697-3699)Cca>Tca	p.P1233S	AKNA_uc004bin.3_Missense_Mutation_p.P480S|AKNA_uc004bio.3_Missense_Mutation_p.P693S|AKNA_uc004bip.3_Missense_Mutation_p.P1152S|AKNA_uc004bir.3_Missense_Mutation_p.P1233S|AKNA_uc004bis.3_Missense_Mutation_p.P1233S|AKNA_uc010mve.2_Missense_Mutation_p.P1114S	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTGCCTTTTGGGACCGCCTTA	0.552000														47			51		0	0	0.003610	0	0
FMO4	2329	broad.mit.edu	37	1	171293343	171293343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:171293343G>A	uc001gho.3	+	4	605	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	130					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTTGTCACAGAGACAGAGGG	0.458000														43			37		0	0	0.005524	0	0
CCNB3	85417	broad.mit.edu	37	X	50094290	50094290	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:50094290C>T	uc004dox.4	+	11	4309	c.4011C>T	c.(4009-4011)ccC>ccT	p.P1337P	CCNB3_uc004doy.3_Silent_p.P1337P|CCNB3_uc004doz.3_Silent_p.P233P|CCNB3_uc010njq.3_Silent_p.P229P|CCNB3_uc004dpa.3_Silent_p.P176P	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1337					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGCTTCACCCCTTGGTCAGAC	0.458000														48			29		0	0	0.007291	0	0
C19orf75	284369	broad.mit.edu	37	19	51768631	51768631	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51768631A>G	uc002pwb.1	+	2	413	c.32A>G	c.(31-33)aAg>aGg	p.K11R	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	11						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						GTACCTGCTAAGCTGCTCAAC	0.547000														51			18		0	0	0.001523	0	0
PELP1	27043	broad.mit.edu	37	17	4578109	4578109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:4578109G>A	uc002fyi.4	-	11	1643	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F	PELP1_uc010vsf.2_Missense_Mutation_p.L326F	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	473					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCACCTTAAGGGCATCAGCT	0.617000														49			18		0	0	0.007413	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472611	47472612	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:47472611_47472612GG>AA	uc001rpm.3	-	2	829_830	c.174_175CC>TT	c.(172-177)aacctg>aaTTtg	p.58_59NL>NL	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.58_59NL>NL|AMIGO2_uc001rpl.3_Silent_p.58_59NL>NL|AMIGO2_uc021qxg.1_Silent_p.58_59NL>NL	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	58	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACCTTGGACAGGTTTTTGTTGG	0.515000														79			32		0	0	0.004672	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190617653	190617654	+	Missense_Mutation	DNP	AT	CA	CA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:190617653_190617654AT>CA	uc002uqz.1	-	5	1549_1550	c.1015_1016AT>TG	c.(1015-1017)att>TGt	p.I339C	OSGEPL1_uc002ura.1_Non-coding_Transcript|Y_RNA_uc021vua.1_5'Flank	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1), mRNA.	339					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ATTTGTTAAAATTTCCAGAGCT	0.411000														27			14		0	0	0.004672	0	0
BEST3	144453	broad.mit.edu	37	12	70048754	70048754	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:70048754T>C	uc001svg.3	-	9	2167	c.1940A>G	c.(1939-1941)gAa>gGa	p.E647G	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.E434G|BEST3_uc010stm.2_Missense_Mutation_p.E541G	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	647						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTCCAGGTTTTCCATTAAATA	0.448000														17			7		0	0	0.003080	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209912	65209912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:65209912C>T	uc001xhp.2	+	16	3553	c.3514C>T	c.(3514-3516)Cgt>Tgt	p.R1172C	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R995C|PLEKHG3_uc001xho.1_Missense_Mutation_p.R1051C|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R593C|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R556C	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1051					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCCCGACGTCCGTGAGCTCTG	0.731000														126			30		0	0	0.001786	0	0
OBSCN	84033	broad.mit.edu	37	1	228437925	228437925	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:228437925C>T	uc009xez.1	+	13	4337	c.4293C>T	c.(4291-4293)ttC>ttT	p.F1431F	OBSCN_uc001hsn.3_Silent_p.F1431F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1431	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTCTCCTTCAGCCTGGACG	0.642000														191			71		0	0	0.003610	0	0
CMAS	55907	broad.mit.edu	37	12	22215238	22215238	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr12:22215238C>T	uc001rfm.3	+	6	1063	c.984C>T	c.(982-984)gcC>gcT	p.A328A	CMAS_uc001rfn.3_Non-coding_Transcript	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	328					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAAGGGCCTGTTCAAAGC	0.348000														5			6		0	0	0.003080	0	0
PFAS	5198	broad.mit.edu	37	17	8166545	8166545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:8166545C>T	uc002gkr.3	+	12	1670	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L	PFAS_uc010vuv.2_Missense_Mutation_p.P86L|PFAS_uc010cnw.1_Missense_Mutation_p.P64L|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	510					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGGGAAACCCCATCTGCAGC	0.572000														99			33		0	0	0.001951	0	0
USP26	83844	broad.mit.edu	37	X	132161645	132161645	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:132161645C>G	uc011mvf.2	-	0	656	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	USP26_uc010nrm.1_Missense_Mutation_p.E202Q	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	202					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCTTGTATTCTACAGAATTA	0.348000														10			7		0	0	0.001984	0	0
CAPN11	11131	broad.mit.edu	37	6	44144731	44144731	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:44144731C>T	uc003owt.1	+	10	1271	c.1233C>T	c.(1231-1233)caC>caT	p.H411H	CAPN11_uc011dvn.2_Silent_p.H65H	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	411	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.H411N(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCAGGAACCACCCTGGTGGGT	0.652000														108			54		0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38888670	38888670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38888670C>T	uc021wvy.1	-	25	5090	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1631					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1631K(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCAAACTTTTCCCACACTTCA	0.408000														26			8		0	0	0.006214	0	0
KLK1	3816	broad.mit.edu	37	19	51323464	51323464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:51323464C>T	uc002ptk.1	-	2	481	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	148	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity	p.E148Q(2)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCACTTCGGGTTCCTCG	0.607000														40			26		0	0	0.005443	0	0
CRELD1	78987	broad.mit.edu	37	3	9985701	9985701	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:9985701C>T	uc003buf.3	+	10	1263	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Intron|CRELD1_uc003bug.3_Intron	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	0					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						aagctactttcccagggctat	0.473000														91			30		0	0	0.006320	0	0
KIAA1199	57214	broad.mit.edu	37	15	81229075	81229076	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:81229075_81229076CC>AA	uc002bfw.1	+	22	3330_3331	c.3070_3071CC>AA	c.(3070-3072)ccc>AAc	p.P1024N	KIAA1199_uc010unn.1_Missense_Mutation_p.P1024N	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1024										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAATGACTTCCCCAGCCACCCT	0.490000														155			7		0	0	0.004672	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796201	11796201	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:11796201C>T	uc021upi.1	+	2	817	c.141C>T	c.(139-141)ttC>ttT	p.F47F	ZNF833P_uc002msl.4_Non-coding_Transcript					Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.									p.R54*(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CAGTTCCATTCGAAAACATGC	0.353000														29			21		0	0	0.001523	0	0
ATP13A5	344905	broad.mit.edu	37	3	192993015	192993015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:192993015C>T	uc011bsq.2	-	29	3473	c.3473G>A	c.(3472-3474)aGg>aAg	p.R1158K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1158					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTGCCAAGTCCTATATTGACT	0.398000														49			15		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179484958	179484958	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179484958G>A	uc021vsy.1	-	196	38811	c.38586C>T	c.(38584-38586)atC>atT	p.I12862I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.I6557I|TTN_uc021vta.1_Silent_p.I6490I|TTN_uc021vtb.1_Silent_p.I6365I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13789							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTTCTTTGATTTCTCTCC	0.388000														0			3		0	0	0.004672	0	0
NXF5	55998	broad.mit.edu	37	X	101097732	101097732	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:101097732C>T	uc011mrk.1	-	2	393	c.33G>A	c.(31-33)agG>agA	p.R11R	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	11					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.M10I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TGAACCATTTCCTCATGTTTT	0.423000														111			36		0	0	0.003610	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280060	32280060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:32280060C>T	uc001bts.1	-	1	933	c.875G>A	c.(874-876)gGg>gAg	p.G292E	SPOCD1_uc001btu.3_Missense_Mutation_p.G292E|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	292					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGGCCCATCCCCTGTAGCGGG	0.632000														12			8		0	0	0.004482	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062305	144062305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:144062305C>T	uc003wel.3	+	1	2661	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	ARHGEF5_uc003wek.3_Missense_Mutation_p.P848L|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	848					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					ATAGACCCTCCCACCGAACCA	0.592000														81			7		0	0	0.000673	0	0
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr6:69703688G>A	uc010kak.3	+	9	2039	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q	BAI3_uc003pev.4_Missense_Mutation_p.R588Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	588					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R588P(2)|p.R588Q(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418000														11			94		0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48696441	48696441	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:48696441G>A	uc003cuf.1	-	2	3837	c.3837C>T	c.(3835-3837)tcC>tcT	p.S1279S	CELSR3_uc003cul.3_Silent_p.S1209S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1209					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACGCTCAAAGGAGTAGAAGA	0.557000														33			9		0	0	0.006214	0	0
OR52A1	23538	broad.mit.edu	37	11	5173014	5173014	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:5173014G>A	uc010qyy.2	-	0	586	c.586C>T	c.(586-588)Caa>Taa	p.Q196*		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	196					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTTGACTTGAACATTTGCT	0.398000														72			31		0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179432670	179432670	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:179432670G>A	uc021vsy.1	-	274	70710	c.70485C>T	c.(70483-70485)ttC>ttT	p.F23495F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F17190F|TTN_uc021vta.1_Silent_p.F17123F|TTN_uc021vtb.1_Silent_p.F16998F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24422	Ig-like 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATACACTCTGAATTCATATT	0.393000														19			10		0	0	0.000673	0	0
SCN10A	6336	broad.mit.edu	37	3	38768242	38768242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:38768242C>T	uc003ciq.3	-	15	2942	c.2942G>A	c.(2941-2943)aGg>aAg	p.R981K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	981					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGCTCATCCCTGGGGCCTCT	0.572000														26			12		0	0	0.001368	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52947567	52947568	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:52947567_52947568CC>TT	uc001cty.2	-	9	1796_1797	c.1543_1544GG>AA	c.(1543-1545)ggt>AAt	p.G515N	ZCCHC11_uc001ctx.2_Missense_Mutation_p.G515N|ZCCHC11_uc009vze.1_Missense_Mutation_p.G515N|ZCCHC11_uc009vzf.1_Missense_Mutation_p.G274N|ZCCHC11_uc001cub.3_Missense_Mutation_p.G515N|ZCCHC11_uc001cuc.2_Non-coding_Transcript	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	515					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGGGATTCCACCATCAGTTTGG	0.366000														1			24		0	0	0.004672	0	0
GPR98	84059	broad.mit.edu	37	5	89969925	89969925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:89969925C>T	uc003kju.3	+	22	5080	c.4984C>T	c.(4984-4986)Cgt>Tgt	p.R1662C	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1662	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R1662H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAGTATTTCCGTGTGACATT	0.388000														19			6		0	0	0.001984	0	0
CACNB2	783	broad.mit.edu	37	10	18828513	18828513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:18828513G>A	uc001ipr.2	+	13	1903	c.1843G>A	c.(1843-1845)Gag>Aag	p.E615K	CACNB2_uc001ipt.2_Missense_Mutation_p.E577K|CACNB2_uc009xjz.1_Missense_Mutation_p.E365K|CACNB2_uc001ips.2_Missense_Mutation_p.E591K|CACNB2_uc001ipu.3_Missense_Mutation_p.E587K|CACNB2_uc001ipv.3_Missense_Mutation_p.E563K|CACNB2_uc009xka.2_Missense_Mutation_p.E549K|CACNB2_uc001ipw.2_Missense_Mutation_p.E522K|CACNB2_uc001ipx.2_Missense_Mutation_p.E560K|CACNB2_uc001ipz.2_Missense_Mutation_p.E537K|CACNB2_uc001ipy.2_Missense_Mutation_p.E561K|CACNB2_uc010qco.1_Missense_Mutation_p.E529K|CACNB2_uc001iqa.2_Missense_Mutation_p.E567K|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	615					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGTGGATCGAGAGCAGGACCA	0.547000														7			11		0	0	0.000978	0	0
NLRP1	22861	broad.mit.edu	37	17	5425006	5425006	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:5425006C>T	uc002gci.3	-	12	4176	c.3621G>A	c.(3619-3621)ctG>ctA	p.L1207L	NLRP1_uc002gcg.1_Silent_p.L1211L|NLRP1_uc002gch.4_Silent_p.L1207L|NLRP1_uc002gck.3_Silent_p.L1207L|NLRP1_uc002gcj.3_Silent_p.L1177L|NLRP1_uc002gcl.3_Silent_p.L1177L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1207					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)				TGGGGTTTTCCAGAACTATGT	0.557000														25			34		0	0	0.006999	0	0
PREX2	80243	broad.mit.edu	37	8	69136852	69136852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr8:69136852C>T	uc003xxv.1	+	38	4793	c.4766C>T	c.(4765-4767)tCt>tTt	p.S1589F		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1589					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACTCCACAGTCTGCACCAAGG	0.507000														17			11		0	0	0.000978	0	0
SPACA7	122258	broad.mit.edu	37	13	113047373	113047373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr13:113047373G>A	uc001vsd.2	+	1	182	c.133G>A	c.(133-135)Gat>Aat	p.D45N		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	45						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AAAACAGGAGGATATGTCTGA	0.403000														91			33		0	0	0.006999	0	0
UBAC1	10422	broad.mit.edu	37	9	138830123	138830123	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr9:138830123G>A	uc004cgt.3	-	8	1265	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A		NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	Homo sapiens UBA domain containing 1 (UBAC1), mRNA.	349						Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TATCCAGGATGGCCTGAAAGA	0.607000														34			15		0	0	0.004007	0	0
ATG9A	79065	broad.mit.edu	37	2	220090285	220090285	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:220090285G>A	uc002vke.1	-	5	408	c.222C>T	c.(220-222)ctC>ctT	p.L74L	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.L74L	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	74					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACCACAAAGAGGAACTGCC	0.547000														10			32		0	0	0.002836	0	0
STK33	65975	broad.mit.edu	37	11	8496350	8496350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr11:8496350G>A	uc001mgi.1	-	0	1022	c.103C>T	c.(103-105)Cct>Tct	p.P35S	STK33_uc001mgj.1_Missense_Mutation_p.P35S|STK33_uc001mgk.1_Missense_Mutation_p.P35S|STK33_uc010rbn.1_5'UTR|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	35						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAAACTGGAGGAACCCTTGTT	0.388000														23			34		0	0	0.003271	0	0
ZNF689	115509	broad.mit.edu	37	16	30616651	30616651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:30616651G>A	uc002dyx.3	-	2	757	c.437C>T	c.(436-438)tCc>tTc	p.S146F	ZNF689_uc010bzy.3_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Homo sapiens zinc finger protein 689 (ZNF689), mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGCCCCCGGACGTCTGCCT	0.602000														89			47		0	0	0.003214	0	0
C3orf20	84077	broad.mit.edu	37	3	14763184	14763184	+	Missense_Mutation	SNP	G	A	A	rs148561738		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:14763184G>A	uc003byy.3	+	9	1911	c.1459G>A	c.(1459-1461)Gta>Ata	p.V487I	C3orf20_uc003byz.3_Missense_Mutation_p.V365I|C3orf20_uc003bza.3_Missense_Mutation_p.V365I|C3orf20_uc003bzb.1_5'UTR	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	487						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAAACTAAAGGTACTGGGACA	0.502000														23			30		0	0	0.001786	0	0
MST1P2	11209	broad.mit.edu	37	1	16975406	16975406	+	RNA	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:16975406G>A	uc010och.2	+	8		c.1687G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGTGGCAAGAGGGTGGATCGG	0.592000														27			5		0	0	0.006214	0	0
TDRKH	11022	broad.mit.edu	37	1	151748637	151748637	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:151748637C>T	uc009wnb.1	-	7	1334	c.1152G>A	c.(1150-1152)ttG>ttA	p.L384L	TDRKH_uc001eyy.2_Silent_p.L160L|TDRKH_uc001ezb.4_Silent_p.L380L|TDRKH_uc001ezc.4_Silent_p.L339L|TDRKH_uc001eza.4_Silent_p.L384L|TDRKH_uc001ezd.4_Silent_p.L384L|TDRKH_uc010pdn.1_Silent_p.L160L	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	384	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATAGAGGTCCAAGTTCCCAT	0.507000														57			28		0	0	0.001786	0	0
CD40LG	959	broad.mit.edu	37	X	135732438	135732438	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chrX:135732438G>T	uc004faa.3	+	1	242	c.170G>T	c.(169-171)aGg>aTg	p.R57M	CD40LG_uc010nsd.3_Missense_Mutation_p.R57M|CD40LG_uc010nse.1_Non-coding_Transcript	NM_000074	NP_000065	P29965	CD40L_HUMAN	Homo sapiens CD40 ligand (CD40LG), mRNA.	57					B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GAAGATGAAAGGAATCTTCAT	0.363000									Immune Deficiency with Hyper-IgM					19			17		4.14922e-12	7.9037e-12	0.004007	1	0
NFATC2IP	84901	broad.mit.edu	37	16	28967337	28967337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:28967337G>A	uc002dru.3	+	3	632	c.617G>A	c.(616-618)aGg>aAg	p.R206K	NPIPL1_uc010vct.2_Intron|NFATC2IP_uc002drt.3_Intron|NFATC2IP_uc002drv.3_5'UTR|NFATC2IP_uc010vdh.2_5'Flank|NFATC2IP_uc021tfu.1_5'Flank	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein (NFATC2IP), mRNA.	206						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CCTTCACCAAGGACCAAAAGC	0.567000														27			46		0	0	0.003610	0	0
CD180	4064	broad.mit.edu	37	5	66478766	66478766	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr5:66478766G>A	uc003juy.2	-	2	2053	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	635					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GAAATACTATGAGAAAGAAAA	0.418000														33			13		0	0	0.001855	0	0
NPR1	4881	broad.mit.edu	37	1	153661494	153661494	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153661494A>C	uc001fcs.4	+	15	2904	c.2483A>C	c.(2482-2484)gAg>gCg	p.E828A	NPR1_uc010pdz.2_Missense_Mutation_p.E574A|NPR1_uc010pea.2_Missense_Mutation_p.E306A	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	828					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AACAATCTGGAGGAACTGGTG	0.622000														165			51		0	0	0.003610	0	0
OR2M7	391196	broad.mit.edu	37	1	248487802	248487802	+	Silent	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248487802G>A	uc010pzk.2	-	0	69	c.69C>T	c.(67-69)acC>acT	p.T23T		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T23T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAAGGTGTGGGTGGGGCTAT	0.498000														50			14		0	0	0.004007	0	0
KRT33B	3884	broad.mit.edu	37	17	39525715	39525715	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:39525715C>T	uc002hwl.3	-	0	333	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	96	Linker 1.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACAGCAAGGGCTCCTGCTGCT	0.607000														22			38		0	0	0.003610	0	0
TDRD9	122402	broad.mit.edu	37	14	104493047	104493047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr14:104493047C>T	uc001yom.4	+	27	3083	c.3053C>T	c.(3052-3054)cCa>cTa	p.P1018L	TDRD9_uc001yon.4_Missense_Mutation_p.P756L	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1018					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AAAATGAGACCATCAGCAAAG	0.483000														56			13		0	0	0.001855	0	0
OR2L2	26246	broad.mit.edu	37	1	248201878	248201878	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:248201878C>T	uc001idw.3	+	0	405	c.309C>T	c.(307-309)ttC>ttT	p.F103F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTTTCTTCTTCTTGACTTTAG	0.418000														19			44		0	0	0.002222	0	0
GK2	2712	broad.mit.edu	37	4	80329014	80329014	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:80329014C>T	uc003hlu.3	-	0	359	c.341G>A	c.(340-342)tGg>tAg	p.W114*		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	114					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TAGATCAAGCCACACCACAGC	0.428000														68			40		0	0	0.005524	0	0
NFKB1	4790	broad.mit.edu	37	4	103533593	103533593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr4:103533593G>A	uc011ceq.2	+	21	2886	c.2419G>A	c.(2419-2421)Gac>Aac	p.D807N	NFKB1_uc011cep.2_Missense_Mutation_p.D808N|NFKB1_uc011cer.2_Missense_Mutation_p.D627N	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	807	Death.|Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCCTTCAGGAGACATGAAACA	0.468000														4			7		0	0	0.001984	0	0
CHIA	27159	broad.mit.edu	37	1	111862988	111862988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:111862988G>A	uc001eas.3	+	11	1488	c.1331G>A	c.(1330-1332)aGa>aAa	p.R444K	CHIA_uc001ear.3_Missense_Mutation_p.R336K|CHIA_uc001eaq.3_Missense_Mutation_p.R336K|CHIA_uc009wgc.3_Missense_Mutation_p.R336K|CHIA_uc001eat.3_Missense_Mutation_p.R283K|CHIA_uc001eav.3_Missense_Mutation_p.R283K|CHIA_uc001eau.3_Missense_Mutation_p.R283K|CHIA_uc009wgd.3_Missense_Mutation_p.R283K	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	444	Chitin-binding type-2.				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCAAATAACAGAAATGCCTTC	0.587000														9			6		0	0	0.001984	0	0
RBM45	129831	broad.mit.edu	37	2	178986073	178986073	+	Silent	SNP	T	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:178986073T>C	uc002ulv.3	+	4	932	c.840T>C	c.(838-840)ccT>ccC	p.P280P		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	282					cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AACGAGATCCTTATTCAAATT	0.328000														23			23		0	0	0.003954	0	0
ZNF813	126017	broad.mit.edu	37	19	53994339	53994339	+	Silent	SNP	T	A	A			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:53994339T>A	uc021uzf.1	+	0	129	c.33T>A	c.(31-33)atT>atA	p.I11I	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.S285T	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCAGACGTATTCCCTTACATG	0.413000														18			8		0	0	0.006214	0	0
OR2C1	4993	broad.mit.edu	37	16	3406252	3406252	+	Silent	SNP	C	T	T			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr16:3406252C>T	uc002cuw.1	+	0	364	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V103V(1)|p.F104I(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTATGTCTTCCTTTGGCTGG	0.562000														17			20		0	0	0.007413	0	0
CDCP2	200008	broad.mit.edu	37	1	54606824	54606825	+	Frame_Shift_Ins	INS	-	G	G	rs142681935		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:54606824_54606825insG	uc001cwv.1	-	2	1557_1558	c.709_710insC	c.(709-711)ttcfs	p.F237fs		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	237	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTCGGACTTGAAGACCACCTGC	0.649													---	37	---	---	21	---					
NOTCH2NL	388677	broad.mit.edu	37	1	145281552	145281566	+	In_Frame_Del	DEL	ACCTGCCTGGTTCCT	-	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:145281552_145281566delACCTGCCTGGTTCCT	uc001emn.4	+	3	852_866	c.482_496delACCTGCCTGGTTCCT	c.(481-498)aacctgcctggttcctac>aac	p.LPGSY162del	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_In_Frame_Del_p.LPGSY162del|NOTCH2NL_uc001emo.2_In_Frame_Del_p.LPGSY162del|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	162	EGF-like 5; calcium-binding (Potential).				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.S165F(6)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCTGCCTCAACCTGCCTGGTTCCTACCAGTGCCA	0.572													---	467	---	---	24	---					
CRTC2	200186	broad.mit.edu	37	1	153924881	153924885	+	Frame_Shift_Del	DEL	AGGGA	-	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr1:153924881_153924885delAGGGA	uc021pab.1	-	8	899_903	c.740_744delTCCCT	c.(739-744)gtccctfs	p.V247fs	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	247					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTTAATTCCAGGGACTTCACAGGA	0.537													---	93	---	---	36	---					
CRIM1	51232	broad.mit.edu	37	2	36706721	36706721	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr2:36706721delA	uc002rpd.3	+	6	1322	c.1256delA	c.(1255-1257)gacfs	p.D419fs		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	419	VWFC 2.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGGCGGGAAGACGACTGCACA	0.552													---	60	---	---	49	---					
AMIGO3	386724	broad.mit.edu	37	3	49755643	49755663	+	In_Frame_Del	DEL	CAGCGGCGGCAGCGGCAGGCA	-	-	rs71688394	byFrequency	TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr3:49755643_49755663delCAGCGGCGGCAGCGGCAGGCA	uc003cxj.3	-	0	1576_1596	c.1236_1256delTGCCTGCCGCTGCCGCCGCTG	c.(1234-1257)cgtgcctgccgctgccgccgctgg>cgg	p.ACRCRRW413del	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	413					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTTTGGGGCcagcggcggcagcggcaggcacggcggcagc	0.674													---	84	---	---	30	---					
LOC493754	493754	broad.mit.edu	37	7	66019666	66019667	+	RNA	INS	-	GTT	GTT			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:66019666_66019667insGTT	uc010lac.2	-	2		c.452_453insAAC			LOC493754_uc010lad.3_Non-coding_Transcript|LOC493754_uc011kdx.2_Non-coding_Transcript|LOC493754_uc011kdy.1_Non-coding_Transcript|LOC493754_uc011kea.2_Non-coding_Transcript|LOC493754_uc003tvc.4_Non-coding_Transcript|LOC493754_uc011keb.2_Non-coding_Transcript					Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 pseudogene (LOC493754), non-coding RNA.																		AAGGCATGGGGGTTGCCCTTCA	0.495													---	61	---	---	10	---					
RABGEF1	27342	broad.mit.edu	37	7	66270287	66270288	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:66270287_66270288insAA	uc003tvf.3	+	11	1816_1817	c.600_601insAA	c.(598-603)aaccccfs	p.N200fs	RABGEF1_uc003tvg.3_Frame_Shift_Ins_p.N135fs|RABGEF1_uc003tvh.3_Frame_Shift_Ins_p.N327fs|RABGEF1_uc010lag.3_Frame_Shift_Ins_p.N327fs|RABGEF1_uc011kee.2_Frame_Shift_Ins_p.N341fs|RABGEF1_uc003tvi.3_Frame_Shift_Ins_p.N161fs	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	544	Interaction with ubiquitinated proteins.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TGAAGGGCAACCCCCCACGCCT	0.510													---	78	---	---	7	---					
RBM33	155435	broad.mit.edu	37	7	155559282	155559282	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr7:155559282delA	uc010lqk.1	+	15	3676	c.3308delA	c.(3307-3309)gagfs	p.E1103fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.E913fs|RBM33_uc003wmg.2_Frame_Shift_Del_p.E39fs	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	1103	RRM.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTGTCTGTGGAGGGGCTGTCC	0.667													---	31	---	---	7	---					
MTPAP	55149	broad.mit.edu	37	10	30658030	30658031	+	Translation_Start_Site	INS	-	TCATGCTTC	TCATGCTTC	rs35032735		TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:30658030_30658031insTCATGCTTC	uc001ivb.4	-	3	390_391	c.-982_-981insGAAGCATGA	c.(-984--979)tgacag>tgaGAAGCATGAcag		MTPAP_uc001ivd.2_Non-coding_Transcript|MTPAP_uc001ivf.1_Non-coding_Transcript	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCGATGCCTGTCATGCTTCTT	0.594													---	53	---	---	44	---					
ARID5B	84159	broad.mit.edu	37	10	63845528	63845528	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr10:63845528delC	uc001jlt.2	+	8	1723	c.1267delC	c.(1267-1269)cggfs	p.R423fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.R180fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	423					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AATCAAACCTCGGAAACAGGA	0.363													---	12	---	---	64	---					
DMXL2	23312	broad.mit.edu	37	15	51773239	51773239	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr15:51773239delT	uc010ufy.2	-	23	6289	c.6064delA	c.(6064-6066)acafs	p.T2022fs	DMXL2_uc002abd.3_Frame_Shift_Del_p.T92fs|DMXL2_uc002abf.3_Frame_Shift_Del_p.T2022fs|DMXL2_uc010bfa.3_Frame_Shift_Del_p.T1386fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2022						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCTGAGGTGTTAATAACATG	0.388													---	122	---	---	112	---					
RAI1	10743	broad.mit.edu	37	17	17699358	17699359	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr17:17699358_17699359insC	uc002grm.3	+	2	3565_3566	c.3096_3097insC	c.(3094-3099)gggcccfs	p.G1032fs	RAI1_uc002grn.1_Frame_Shift_Ins_p.G1032fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1032						cytoplasm|nucleus	zinc ion binding	p.Q1035fs*31(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGCACAGGGCCCCCCCAGGG	0.698													---	4	---	---	6	---					
ZBTB7A	51341	broad.mit.edu	37	19	4054599	4054607	+	In_Frame_Del	DEL	GCGGCCACG	-	-			TCGA-EE-A2GO-06A-11D-A196-08	TCGA-EE-A2GO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	874c3c51-d097-4729-80c8-11a1a17a2686	ceade529-781e-4fc1-a7ba-b084772a09ae	g.chr19:4054599_4054607delGCGGCCACG	uc002lzh.3	-	1	699_707	c.624_632delCGTGGCCGC	c.(622-633)gccgtggccgcg>gcg	p.208_211AVAA>A	ZBTB7A_uc002lzi.3_In_Frame_Del_p.208_211AVAA>A	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	208	Ala-rich.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGTCGCCCGCGGCCACGGCGGCCACAG	0.756													---	16	---	---	8	---