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
LRTM2	654429	broad.mit.edu	37	12	1943459	1943459	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:1943459A>T	uc001qjt.2	+	4	1491	c.685A>T	c.(685-687)Acc>Tcc	p.T229S	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.T229S|LRTM2_uc010sdx.1_Missense_Mutation_p.T229S|LRTM2_uc001qjv.2_5'UTR	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	229	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTTGCCTGCACCCTGCCCAA	0.592000														29			4		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46846566	46846566	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:46846566C>T	uc021tzm.1	-	14	2496	c.2461G>A	c.(2461-2463)Gag>Aag	p.E821K	TTLL6_uc002iob.3_Missense_Mutation_p.E514K|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.E574K|TTLL6_uc002iod.3_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	773						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGCCTCTTCTCGCCAGAGCTG	0.562000														50			9		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588607	33588607	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:33588607G>A	uc002xbi.2	+	39	5658	c.5341G>A	c.(5341-5343)Gcg>Acg	p.A1781T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1739						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)			GAAGCTGGAGGCGGACTTGGC	0.632000														31			8		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35042882	35042882	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:35042882G>A	uc003zvw.3	+	1	285	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	C9orf131_uc003zvu.3_Missense_Mutation_p.A38T|C9orf131_uc003zvv.3_Missense_Mutation_p.A13T|C9orf131_uc003zvx.3_Missense_Mutation_p.A51T	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	86										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCACCGTGTGGCCTTCCTTGA	0.488000														42			13		0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43913596	43913596	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:43913596A>G	uc001mxs.2	+	6	819	c.376A>G	c.(376-378)Act>Gct	p.T126A	ALKBH3_uc009ykp.2_Intron|ALKBH3_uc001mxt.2_Intron	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	Homo sapiens alkB, alkylation repair homolog 3 (E. coli) (ALKBH3), mRNA.	126					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	DNA-N1-methyladenine dioxygenase activity|L-ascorbic acid binding|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CTTAGATATAACTTATCAGCA	0.363000								Direct reversal of damage						20			7		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661245	4661245	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:4661245C>A	uc010qyk.2	+	0	301	c.225C>A	c.(223-225)ttC>ttA	p.F75L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACCTCTTCCTGGCCATGC	0.517000														48			10		2.17888e-05	2.18758e-05	1	1	0
TMEM119	338773	broad.mit.edu	37	12	108985515	108985515	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:108985515C>T	uc001tng.3	-	1	808	c.645G>A	c.(643-645)ggG>ggA	p.G215G	TMEM119_uc021rdl.1_Silent_p.G215G	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	215						integral to membrane		p.E214K(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CTTCCTGGTCCCCCTCCTGGC	0.692000														51			11		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147486667	147486667	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:147486667C>T	uc003lox.2	+	16	1620	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	SPINK5_uc010jgs.1_Missense_Mutation_p.P488L|SPINK5_uc010jgr.2_Missense_Mutation_p.P497L|SPINK5_uc003low.2_Missense_Mutation_p.P516L|SPINK5_uc003loy.2_Missense_Mutation_p.P516L	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	516	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)			GAGCATAATCCTGTCCGTGGC	0.463000														81			42		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5798815	5798815	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:5798815C>T	uc003gil.1	+	13	2137	c.1953C>T	c.(1951-1953)ctC>ctT	p.L651L	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	651					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCTGGCACTCCGCGGCAACG	0.662000														47			6		0	0	1	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423688	142423688	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:142423688C>T	uc010lol.1	+	1	377	c.344C>T	c.(343-345)tCc>tTc	p.S115F	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|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_Splice_Site					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCAGTTTATCCACAGTGTTG	0.537000														25			9		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3829379	3829379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:3829379G>A	uc003zhx.1	-	9	3300	c.2587C>T	c.(2587-2589)Cct>Tct	p.P863S	GLIS3_uc010mhf.1_Missense_Mutation_p.P257S|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.P708S	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	708					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATGGATGTAGGGACTAGGCAG	0.537000														44			7		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149264387	149264387	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:149264387C>T	uc003lrg.4	-	14	2002	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	PDE6A_uc021yfs.1_Missense_Mutation_p.E547K	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	628					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGTGTCTTTCCAAGATAGAG	0.493000														51			18		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431911	140431911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140431911G>A	uc003lik.1	+	0	933	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	286	Cadherin 3.				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)			TCAAAACCCAGAAGCAATTCT	0.473000														28			18		0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659542	63659542	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:63659542G>A	uc010lyq.1	+	3	457	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	109						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATGGTGGAGAGAACATGGGCC	0.478000														24			3		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751445	26751445	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:26751445C>A	uc003cdp.3	+	1	871	c.282C>A	c.(280-282)aaC>aaA	p.N94K	LRRC3B_uc003cdq.3_Missense_Mutation_p.N94K|LRRC3B_uc021wuj.1_Missense_Mutation_p.N94K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	94						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAGTTCTCAACCTGTCCAAAA	0.423000														35			8		5.18039e-06	5.22192e-06	1	1	0
BRD9	65980	broad.mit.edu	37	5	876253	876253	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:876253C>G	uc003jbq.3	-	11	1513	c.1346G>C	c.(1345-1347)gGc>gCc	p.G449A	BRD9_uc003jbl.3_Missense_Mutation_p.G333A|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.G396A|BRD9_uc003jbo.3_Missense_Mutation_p.G353A|BRD9_uc003jbp.3_Missense_Mutation_p.G110A|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	449							nucleic acid binding	p.R449W(1)		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)			GTGGTCTCCGCCTGTGATCTG	0.637000														43			14		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661754	4661754	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:4661754G>A	uc010qyk.2	+	0	810	c.734G>A	c.(733-735)aGg>aAg	p.R245K		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R244R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCTCGGAGGGCAGCACTC	0.532000														80			21		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	815696	815696	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:815696C>T	uc002cjw.2	+	9	912	c.801C>T	c.(799-801)atC>atT	p.I267I	MSLN_uc002cju.1_Silent_p.I267I|MSLN_uc002cjt.1_Silent_p.I267I|MSLN_uc010brd.1_Silent_p.I266I|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	267	Required for megakaryocyte-potentiating factor activity.				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)				CTCAGGGCATCGTGGCCGCGT	0.701000														38			8		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:100263983G>A	uc021xqi.1	-	5		c.882C>T				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)	GACTTCAAACGAAAAATCCAC	0.463000														226			35		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482381	140482381	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140482381G>A	uc003lio.3	+	0	2148	c.2148G>A	c.(2146-2148)agG>agA	p.R716R	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	716					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)			TGTGCAGGAGGAGCAGGGCGG	0.672000														174			45		0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	12028097	12028097	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:12028097C>T	uc002kqp.2	+	5	788	c.546C>T	c.(544-546)acC>acT	p.T182T	IMPA2_uc021uhq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	182					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	ACCCTGCGACCCTGAAGCTGT	0.522000														72			8		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				99			37		6.29468e-14	6.38352e-14	1	1	0
GAK	2580	broad.mit.edu	37	4	843544	843544	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:843544C>T	uc003gbm.4	-	27	4052	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	GAK_uc003gbn.4_Missense_Mutation_p.E1206K|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.E1138K	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1285	J.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGTGCTGCTCGTACGGCTGC	0.677000														25			5		0	0	1	0	0
RAB8B	51762	broad.mit.edu	37	15	63555797	63555797	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:63555797C>T	uc002alz.3	+	7	699	c.603C>T	c.(601-603)ttC>ttT	p.F201F	RAB8B_uc010uih.2_Silent_p.F184F	NM_016530	NP_057614	Q92930	RAB8B_HUMAN	Homo sapiens RAB8B, member RAS oncogene family (RAB8B), mRNA.	201					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						AGACCAGTTTCTTTCGTTGCT	0.458000														19			7		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436043	158436043	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:158436043C>T	uc010pij.2	+	0	692	c.692C>T	c.(691-693)tCc>tTc	p.S231F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCCCTTCCTCCGTTGGAAGA	0.453000														56			14		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64607881	64607881	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:64607881G>A	uc003dmg.3	-	17	2711	c.2679C>T	c.(2677-2679)ccC>ccT	p.P893P	ADAMTS9_uc011bfo.2_Silent_p.P865P|ADAMTS9_uc003dmh.1_Silent_p.P722P|ADAMTS9_uc003dmk.1_Silent_p.P893P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	893	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TACCTTGGCAGGGTTTACTGC	0.368000														43			5		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135722	55135722	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:55135722C>T	uc010rif.2	+	0	363	c.363C>T	c.(361-363)tcC>tcT	p.S121S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGACCATTTCCTTTCAGGGTT	0.388000														96			26		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117376	117376	+	RNA	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrGL000205.1:117376G>A	uc002kgk.4	+	0		c.754G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTCCATGCAGGAGATCCACGA	0.572000														62			4		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17710574	17710574	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:17710574C>T	uc011mix.2	+	2	1176	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	NHS_uc004cxx.3_Missense_Mutation_p.R280C|NHS_uc004cxy.3_Missense_Mutation_p.R103C|NHS_uc004cxz.3_Missense_Mutation_p.R103C|NHS_uc004cya.3_5'UTR	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	280						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTTTAAGGACCGTCACTTTTT	0.562000														54			16		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67692058	67692058	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:67692058G>A	uc002etq.4	-	9	1632	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	ACD_uc002etp.4_Missense_Mutation_p.P429L|ACD_uc002etr.4_Missense_Mutation_p.P429L|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	432	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGAGAGACTGGGAGTGCAGCT	0.647000														51			19		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157049721	157049721	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:157049721C>T	uc010lqs.3	+	21	3376	c.3064C>T	c.(3064-3066)Cct>Tct	p.P1022S	UBE3C_uc003wni.4_Missense_Mutation_p.P385S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	1022	HECT.				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)		CTCTCGACCCCCTCTCTTGGG	0.418000														61			21		0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5044429	5044429	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:5044429G>A	uc010mhm.3	+	3	490	c.377G>A	c.(376-378)aGt>aAt	p.S126N	JAK2_uc003ziw.3_Missense_Mutation_p.S126N	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	126	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.C125C(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGTATTGCAGTGGCAGCAAC	0.388000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					38			26		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	A	A	rs3917742	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:169578921G>A	uc001ggi.4	-	7	1219	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_uc001ggh.3_Missense_Mutation_p.S220L|SELP_uc009wvr.3_Missense_Mutation_p.S385L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		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)	CGGCTCACACGAAATAGCTAA	0.478000														25			14		0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927110	31927110	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:31927110C>T	uc002ecs.4	+	3	1749	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	514					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCGGAAAATTCATACTGGAGA	0.358000														35			9		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2976817	2976817	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:2976817C>T	uc003smv.3	-	8	1529	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	399					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTCCTTTTCGATTAAGCAC	0.587000			Mis		DLBCL									49			4		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125506412	125506413	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:125506412_125506413CC>TT	uc001lhk.1	-	13	2463_2464	c.2138_2139GG>AA	c.(2137-2139)agg>aAA	p.R713K	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	713					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R713S(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGAAGTCACACCTTGTGGCCCC	0.554000														127			34		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99837539	99837539	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:99837539C>T	uc001tge.2	-	10	1904	c.1487G>A	c.(1486-1488)aGa>aAa	p.R496K	ANKS1B_uc001tgf.2_Missense_Mutation_p.R76K|ANKS1B_uc009ztt.1_Missense_Mutation_p.R462K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	496						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGAGCTGTTTCTATGGTTACT	0.428000														58			16		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885527	60885527	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:60885527G>A	uc002ycq.3	-	75	10615	c.10548C>T	c.(10546-10548)ggC>ggT	p.G3516G	LAMA5_uc021wfw.1_Silent_p.G3516G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3516					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCCAGGGGGCCCAAGATGC	0.682000														75			11		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26641802	26641802	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:26641802T>C	uc003gsf.4	+	6	743	c.473T>C	c.(472-474)tTt>tCt	p.F158S	TBC1D19_uc010iew.3_Missense_Mutation_p.F158S|TBC1D19_uc011bxu.2_Missense_Mutation_p.F93S	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	158						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CCTAAGGATTTTCTTGAGGTA	0.269000														31			10		0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130658597	130658597	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:130658597G>A	uc004bsp.1	-	2	160	c.41C>T	c.(40-42)tCc>tTc	p.S14F	ST6GALNAC6_uc004bsn.1_5'UTR|ST6GALNAC6_uc011man.1_5'UTR|ST6GALNAC6_uc004bso.1_Missense_Mutation_p.S14F|ST6GALNAC6_uc004bsq.1_5'UTR|ST6GALNAC6_uc004bsr.2_5'UTR|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	14					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGGGGCAGGGATGTGGGTTC	0.557000														45			16		0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427535	104427535	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:104427535T>C	uc003yln.3	+	0	594	c.317T>C	c.(316-318)gTt>gCt	p.V106A	SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					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						CAGGATCCAGTTGAGCCAGCA	0.622000														125			18		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377160	50377160	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:50377160G>C	uc004dpe.2	-	3	1939	c.1913C>G	c.(1912-1914)tCt>tGt	p.S638C	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.S522C	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	638					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGATAGAAGAGATGTGTTAGA	0.517000														42			11		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098082	93098082	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:93098082G>A	uc003umv.2	-	7	820	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.H156Y|CALCR_uc003umw.2_Missense_Mutation_p.H156Y	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	156					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GACAAAGAATGACCCACAATA	0.348000														42			13		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78943231	78943231	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:78943231G>A	uc001jxn.3	-	4	933	c.756C>T	c.(754-756)ttC>ttT	p.F252F	KCNMA1_uc021ptu.1_Silent_p.F198F|KCNMA1_uc001jxj.2_Silent_p.F252F|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Silent_p.F72F|KCNMA1_uc001jxo.3_Silent_p.F252F|KCNMA1_uc001jxm.3_Silent_p.F252F|KCNMA1_uc001jxq.3_Silent_p.F252F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	252					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCACCGTGAAGAAATCCACTA	0.448000														33			10		0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42793914	42793914	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:42793914G>A	uc003bcn.4	-	3	651	c.613C>T	c.(613-615)Cca>Tca	p.P205S		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	205					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GCAGATCTTGGATCTGGGCAC	0.617000														89			19		0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110873301	110873301	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:110873301G>A	uc002tfk.3	-	0	843	c.69C>T	c.(67-69)ttC>ttT	p.F23F	MALL_uc010fju.3_Non-coding_Transcript	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	23	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GGATGGTGAGGAACAGCGCGA	0.741000														12			3		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087528	47087528	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:47087528C>T	uc001jee.3	+	2	1164	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.H249Y|PPYR1_uc021ppu.1_Missense_Mutation_p.H249Y	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	249					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCGCGTGTTTCACAAGGGCAC	0.602000														202			13		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466380	114466380	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:114466380C>T	uc003kqs.3	-	8	2250	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	TRIM36_uc011cwc.2_Missense_Mutation_p.E569K|TRIM36_uc003kqt.3_Missense_Mutation_p.E426K	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	581	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAATATGGTTCCACACGGAAG	0.453000														66			32		0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823944	70823944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:70823944G>A	uc004eae.2	+	7	1318	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	273	Asp/Ser-rich.					nucleus		p.E273D(1)		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)					TGATGATTCGGAAGCTCCCGA	0.552000														312			13		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134912145	134912145	+	Splice_Site	SNP	G	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:134912145G>C	uc001llw.3	+	13	2292	c.2292_splice	c.e13-1	p.S764_splice	GPR123_uc001llx.4_Splice_Site_p.S44_splice			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	44						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTCCCACAGCGCCATCCGCAT	0.657000														45			13		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072008	240072008	+	Silent	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:240072008T>C	uc021plc.1	+	0	1257	c.1257T>C	c.(1255-1257)agT>agC	p.S419S	CHRM3_uc001hyp.3_Silent_p.S419S	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	419					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ATGGAGGCAGTTTTCCAAAAA	0.572000														13			4		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75893395	75893395	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:75893395G>A	uc003kek.3	+	9	1261	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	347					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTATCAGAACGAACTTTTCAA	0.547000														70			20		0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406622	55406622	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:55406622C>T	uc010rij.2	+	0	789	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCACAACATTCTCAGAAGATA	0.418000														68			25		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39153643	39153643	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:39153643G>A	uc003jls.3	-	1	1266	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	FYB_uc003jlt.3_Missense_Mutation_p.P400L|FYB_uc003jlu.3_Missense_Mutation_p.P400L|FYB_uc011cpl.2_Missense_Mutation_p.P410L	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	400	Interaction with SKAP1.				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)			TTGGCTGGCCGGATGGGATGG	0.493000														117			32		0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44175970	44175970	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:44175970T>C	uc001ztl.3	-	12	1243	c.1066A>G	c.(1066-1068)Acc>Gcc	p.T356A	FRMD5_uc001ztj.1_Missense_Mutation_p.T29A|FRMD5_uc001ztk.1_Missense_Mutation_p.T262A|FRMD5_uc010uef.2_Missense_Mutation_p.T29A|FRMD5_uc001ztm.3_Missense_Mutation_p.T29A|FRMD5_uc001ztn.3_Missense_Mutation_p.T122A	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	356						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGGCCATGGGTTATGGAGGGA	0.527000														58			24		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266413	39266413	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:39266413G>A	uc001uwv.3	+	0	5241	c.4932G>A	c.(4930-4932)atG>atA	p.M1644I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1644					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCAAGTGATGAAGATCCAGG	0.493000														67			20		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16177951	16177951	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:16177951G>A	uc003jfo.2	-	1	790	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	BC043001_uc003jfp.3_5'Flank	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	193						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.R193L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TGTGTATACCGAACTGACCCA	0.408000														37			17		0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183960120	183960120	+	RNA	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:183960120C>T	uc003ivi.4	+	0		c.1303C>T								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		TTATTCATCTCGTTTAGATAT	0.378000														16			3		0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1959984	1959984	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:1959984G>A	uc010cjy.3	+	1	57	c.57G>A	c.(55-57)acG>acA	p.T19T	HIC1_uc002fty.4_5'UTR|HIC1_uc002ftz.4_5'UTR|HIC1_uc021tnn.1_5'Flank	NM_001098202	NP_006488	Q14526	HIC1_HUMAN	Homo sapiens hypermethylated in cancer 1 (HIC1), transcript variant 2, mRNA.	19					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CTGGGCAGACGATGCTGGACA	0.692000														12			3		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058192	81058192	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:81058192C>T	uc001kaf.2	+	14	2093	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	ZMIZ1_uc001kag.2_Silent_p.Y383Y	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	507	Pro-rich.				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)			TGGCAAATTACCCCCACTCAC	0.587000														166			38		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392798	178392798	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:178392798G>A	uc003mjo.2	+	4	1694	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	ZNF454_uc010jkz.2_Missense_Mutation_p.E465K|ZNF454_uc021yjc.1_Missense_Mutation_p.E465K	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCATACTAGGGAAAAACCTTA	0.388000														66			24		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873252	36873252	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:36873252G>A	uc003cgj.3	-	20	7938	c.7690C>T	c.(7690-7692)Ccc>Tcc	p.P2564S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2564					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						AGCCTCTCGGGAACCTGGCCA	0.582000														56			29		0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70243342	70243342	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:70243342G>A	uc001joi.3	-	8	994	c.846C>T	c.(844-846)acC>acT	p.T282T	SLC25A16_uc010qiy.2_Silent_p.T184T|SLC25A16_uc001joj.3_Silent_p.T184T	NM_152707	NP_689920	P16260	GDC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), nuclear gene encoding mitochondrial protein, mRNA.	282					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TATCCCGCATGGTACTGAAAG	0.368000														101			24		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70300527	70300527	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:70300527G>A	uc001dep.3	+	3	481	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	LRRC7_uc001deo.1_Missense_Mutation_p.E189K|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	151						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						CGCCTTTCTTGAATTTCTTCC	0.383000														66			6		0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798702	12798702	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:12798702G>A	uc002dca.4	-	2	605	c.494C>T	c.(493-495)tCc>tTc	p.S165F	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	165							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GTAGAACTGGGAGTTGAGGAC	0.632000														62			18		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40760814	40760814	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:40760814T>C	uc001rmg.4	+	49	7518	c.7397T>C	c.(7396-7398)cTt>cCt	p.L2466P	LRRK2_uc009zjw.3_Missense_Mutation_p.L1304P|LRRK2_uc001rmi.3_3'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2466			L -> H (in PARK8).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGGAAGCCTTAAAAATGTC	0.318000														25			6		0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73249126	73249126	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:73249126G>A	uc003tzj.2	-	5	725	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S		NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	229										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GACAATGCCGGAGATGAAGCC	0.632000														52			13		0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45228242	45228242	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:45228242C>T	uc001cmg.4	+	18	1998	c.1883C>T	c.(1882-1884)tCt>tTt	p.S628F	KIF2C_uc010olb.2_Missense_Mutation_p.S587F|KIF2C_uc010olc.2_Missense_Mutation_p.S515F|KIF2C_uc001cmh.4_Missense_Mutation_p.S574F	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	628					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAGGAACTGTCTTCCCAGATG	0.517000														24			10		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821949	43821949	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:43821949C>T	uc001zrt.3	+	4	8604	c.8137C>T	c.(8137-8139)Cgt>Tgt	p.R2713C		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2713						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.R2713S(2)		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)	TGACTTCTTCCGTCGAGTGCG	0.587000														64			17		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510501	84510501	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:84510501G>A	uc004eeq.3	+	3	1202	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZNF711_uc004eep.3_Missense_Mutation_p.E106K|ZNF711_uc004eeo.3_Missense_Mutation_p.E106K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	106					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GGATTTAGAGGAAGATGATGG	0.438000														97			27		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15661592	15661592	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:15661592C>T	uc001rcv.2	+	6	1825	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	PTPRO_uc001rcw.2_Missense_Mutation_p.S452F|PTPRO_uc001rcu.2_Missense_Mutation_p.S452F	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	452	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)				GCCTTGATGTCCTGGACATCT	0.502000														62			6		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699191	49699191	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:49699191C>T	uc003cxe.4	+	5	10027	c.9913C>T	c.(9913-9915)Ctc>Ttc	p.L3305F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3305					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)		GGGTGGCCACCTCCGGAGCAT	0.597000														56			18		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496451	24496451	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:24496451C>T	uc002kwd.3	-	4	1333	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Silent_p.G368G|CHST9_uc021uij.1_Silent_p.G283G	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	368					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCAAATTTCCCTACAAAAT	0.428000														85			23		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067261	190067261	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:190067261G>A	uc001gse.1	-	7	2420	c.2188C>T	c.(2188-2190)Cat>Tat	p.H730Y	FAM5C_uc010pot.1_Missense_Mutation_p.H628Y	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	730						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)					TTGAGTCTATGACGAAGCAAG	0.458000														69			17		0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787316	8787316	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:8787316C>T	uc003bra.3	+	1	296	c.219C>T	c.(217-219)taC>taT	p.Y73Y	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Silent_p.Y73Y	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	73	Required for interaction with DAG1.				T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization	Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						ACTGGTGCTACCGTCTGTTGT	0.592000														25			4		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957860	74957860	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:74957860G>A	uc001dge.2	+	24	2631	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.G754E	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	754						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AACCGGGGAGGACCTGGCCGG	0.502000														99			33		0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2980813	2980813	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:2980813A>G	uc002csd.3	+	3	1091	c.728A>G	c.(727-729)gAg>gGg	p.E243G	FLYWCH1_uc002csb.3_Missense_Mutation_p.E242G|FLYWCH1_uc002csc.3_Missense_Mutation_p.E242G|FLYWCH1_uc010bsv.3_5'Flank	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	243	Poly-Glu.					nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GCCCTGGAGGAGGAGGAGGCA	0.706000														22			4		0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	916806	916806	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:916806G>A	uc003zgv.3	+	3	1015	c.866G>A	c.(865-867)aGg>aAg	p.R289K		NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	289					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TCCCAGTACAGGATGCATTCT	0.493000														66			14		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52258559	52258559	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:52258559G>A	uc002lfq.1	+	0	170	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	42						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGAGCACTCTGAAAACCAGCC	0.358000														94			11		0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842709	35842709	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:35842709C>T	uc002nzc.2	+	0	265	c.255C>T	c.(253-255)gcC>gcT	p.A85A		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	85					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TCGCGGTGGCCCACTTCTTCC	0.697000														9			4		0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988852	154988852	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:154988852G>A	uc001fgj.4	+	5	1698	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	ZBTB7B_uc009wpa.3_Silent_p.K437K|ZBTB7B_uc001fgk.4_Silent_p.K437K|ZBTB7B_uc010peq.2_Silent_p.K471K|ZBTB7B_uc001fgl.4_Silent_p.K437K	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	437					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTGCCACAAGGCTTTCGCCA	0.657000														58			18		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524354	37524354	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:37524354G>A	uc003aqv.1	-	9	1569	c.1438C>T	c.(1438-1440)Cca>Tca	p.P480S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	480					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACCAGGTCTGGGACTCCTGGG	0.667000														40			21		0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108868674	108868674	+	Silent	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:108868674T>C	uc003hyp.3	+	2	1352	c.1269T>C	c.(1267-1269)caT>caC	p.H423H	CYP2U1_uc011cfi.2_Silent_p.H214H	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	423					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CCATTCCTCATATGACCTCAG	0.557000														24			3		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170182	207170182	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:207170182G>A	uc002vbp.2	+	4	1180	c.930G>A	c.(928-930)ccG>ccA	p.P310P		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	310							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						CAGTAAACCCGAATAAAACTG	0.373000														24			5		0	0	1	0	0
BAGE	574	broad.mit.edu	37	21	11058322	11058322	+	Splice_Site	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:11058322C>T	uc002yiu.1	-	3	317	c.117_splice	c.e3-1	p.L39_splice	BAGE_uc002yit.1_Splice_Site_p.L39_splice|BAGE_uc002yiv.1_Splice_Site|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	39						extracellular region								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)		AAATGCACATCGCTGAAAGGG	0.383000														134			9		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004823	248004823	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:248004823T>C	uc001idn.1	-	0	376	c.376A>G	c.(376-378)Atc>Gtc	p.I126V		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125A(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGCTGCAGATGGCCAGGTAA	0.602000														35			7		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938086	169938086	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:169938086G>A	uc010zdc.2	+	1	287	c.175G>A	c.(175-177)Gga>Aga	p.G59R	DHRS9_uc002uep.3_5'UTR|DHRS9_uc002ueq.3_5'UTR|DHRS9_uc002uer.1_5'UTR|DHRS9_uc010zdd.2_5'UTR|DHRS9_uc010zde.2_5'UTR	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACACACAGGGGGAAAAATGCT	0.388000														28			10		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159569687	159569687	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:159569687C>T	uc003ipz.3	+	16	2056	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	RXFP1_uc010iqk.3_Missense_Mutation_p.S466F|RXFP1_uc011cja.2_Missense_Mutation_p.S493F|RXFP1_uc010iqo.3_Missense_Mutation_p.S550F|RXFP1_uc011cjb.2_Missense_Mutation_p.S496F|RXFP1_uc011cjc.2_Missense_Mutation_p.S517F|RXFP1_uc011cjd.2_Missense_Mutation_p.S517F|RXFP1_uc010iql.3_Missense_Mutation_p.S442F|RXFP1_uc011cje.2_Missense_Mutation_p.S625F|RXFP1_uc010iqm.3_Missense_Mutation_p.S565F|RXFP1_uc011cjf.2_Missense_Mutation_p.S467F|RXFP1_uc010iqn.3_Missense_Mutation_p.S543F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	598						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATAGTTTTTTCCTATGGAAGC	0.299000														19			4		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651132	90651132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:90651132G>A	uc001xye.1	+	1	1454	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	338						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.T337T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAGTGACACGGACGGGCGCCG	0.602000														77			22		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165351	51165351	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:51165351G>A	uc002psx.1	-	22	6376	c.6357C>T	c.(6355-6357)ttC>ttT	p.F2119F	SHANK1_uc002psw.1_Silent_p.F1503F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2119	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGTGGTCCAGGAACTGGGCTC	0.617000														47			22		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62547926	62547926	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:62547926A>T	uc001jld.3	+	4	569	c.427A>T	c.(427-429)Aaa>Taa	p.K143*	CDK1_uc010qii.2_3'UTR|CDK1_uc021prh.1_3'UTR|CDK1_uc001jlg.3_Intron|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	143	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of mitotic cell cycle|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	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						AGGAACAATTAAACTGGCTGA	0.383000														55			8		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21413915	21413915	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:21413915C>T	uc002kuq.3	+	23	3033	c.2947C>T	c.(2947-2949)Ctg>Ttg	p.L983L	LAMA3_uc002kur.3_Silent_p.L983L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	983	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGTCTGTTCTGGCAGGCCA	0.512000														200			37		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626658	142626658	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:142626658G>A	uc003wby.1	-	3	616	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	TRPV5_uc003wbz.3_Nonsense_Mutation_p.Q118*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	118					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGTGCAGTCTGACCTGGCCCA	0.602000														75			18		0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576630	115576630	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:115576630C>T	uc001efs.1	+	2	267	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	67					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CAAATATGCTCTGTCCCAGGA	0.408000														107			28		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671037	28671037	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:28671037G>A	uc002kwl.4	-	3	882	c.428C>T	c.(427-429)tCg>tTg	p.S143L	DSC2_uc002kwk.4_Missense_Mutation_p.S143L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	143	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTAGCATCGAACAAGGAAT	0.398000														34			4		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911437	139911437	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:139911437G>A	uc004ckm.1	-	18	2830	c.2780C>T	c.(2779-2781)aCc>aTc	p.T927I	ABCA2_uc022bpy.1_Missense_Mutation_p.T828I|ABCA2_uc022bpz.1_Missense_Mutation_p.T898I|ABCA2_uc011mem.1_Missense_Mutation_p.T897I|ABCA2_uc004ckl.1_Missense_Mutation_p.T828I|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.	897					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)		CATCAGCATGGTGACAGCCAG	0.627000														60			19		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72038804	72038804	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:72038804C>T	uc001swo.2	-	3	1491	c.1132G>A	c.(1132-1134)Gct>Act	p.A378T		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	378					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGAAGAGCCAAAAGGCGA	0.338000														18			6		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47355259	47355259	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:47355259G>A	uc021qis.1	-	28	3094	c.3039C>T	c.(3037-3039)ccC>ccT	p.P1013P	MYBPC3_uc021qir.1_Silent_p.P665P	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	1012	Ig-like C2-type 6.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGCCTGCCAGGGGCTGCCCCT	0.652000														36			7		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616640	77616640	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:77616640C>T	uc003yau.2	+	1	704	c.317C>T	c.(316-318)cCt>cTt	p.P106L	ZFHX4_uc003yat.1_Missense_Mutation_p.P106L|ZFHX4_uc003yaw.1_Missense_Mutation_p.P106L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	106						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)			GCCCGCCTTCCTGTCCTGAAG	0.502000										HNSCC(33;0.089)				175			25		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53228021	53228021	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:53228021C>T	uc004drz.3	-	15	2826	c.2293G>A	c.(2293-2295)Gtt>Att	p.V765I	KDM5C_uc022bxe.1_Missense_Mutation_p.V698I|KDM5C_uc004dsa.3_Missense_Mutation_p.V764I	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	765					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCAGCCCGAACCTTCAGCTTA	0.597000			"""N, F, S"""		clear cell renal carcinoma									74			22		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102343254	102343254	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:102343254G>A	uc003knt.3	+	18	2481	c.2108G>A	c.(2107-2109)cGg>cAg	p.R703Q	PAM_uc003knw.3_Missense_Mutation_p.R703Q|PAM_uc003kns.3_Missense_Mutation_p.R596Q|PAM_uc003knu.3_Missense_Mutation_p.R703Q|PAM_uc011cuz.2_Missense_Mutation_p.R606Q|PAM_uc003knv.3_Missense_Mutation_p.R703Q|PAM_uc003knz.3_5'UTR	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	703	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTGGCAGACCGGGAAAATGGT	0.443000														56			25		0	0	1	0	0
CLEC9A	283420	broad.mit.edu	37	12	10205295	10205295	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:10205295G>A	uc001qxa.3	+	3	622	c.9G>A	c.(7-9)gaG>gaA	p.E3E		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	3					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ACATGCACGAGGAAGAAATAT	0.453000														32			9		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973323	29973323	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:29973323G>A	uc004dby.2	+	10	1985	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	493	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTTTGAGCTGGAAACCAGACT	0.428000														69			21		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267111	48267111	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:48267111C>T	uc001ngs.1	+	0	456	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGCACAAATCCTTCTCATCT	0.502000														153			38		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559237	1559237	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:1559237G>A	uc010gai.3	-	1	279	c.180C>T	c.(178-180)atC>atT	p.I60I	SIRPB1_uc002wfk.4_Silent_p.I60I	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	60	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCCCCACAGGGATCAGGGACG	0.542000														79			24		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171675156	171675156	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:171675156C>T	uc002ugi.3	+	1	477	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	GAD1_uc002ugh.3_Missense_Mutation_p.P19S	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	19					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)	GGGAGCGGACCCCAATACCAC	0.622000														73			21		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414116	19414116	+	RNA	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:19414116C>T	uc010tcj.1	-	0		c.31994G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGATTTACCTGATTTGGA	0.269000														11			4		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886213	119886213	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:119886213C>T	uc011bjf.2	-	8	2491	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	GPR156_uc011bjg.2_Missense_Mutation_p.R700Q	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	704						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.G703G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		ACTTGGGGCCCGGCCAGAACC	0.637000														44			19		0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38891817	38891817	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:38891817A>C	uc003avy.4	-	5	967	c.864T>G	c.(862-864)atT>atG	p.I288M	DDX17_uc003avx.4_Missense_Mutation_p.I288M|DDX17_uc011anu.2_Missense_Mutation_p.I201M	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	209	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CCAAGTCTCGAATCTGGGGAC	0.393000														84			22		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539545	133539545	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:133539545C>T	uc002ttp.3	-	13	5213	c.4839G>A	c.(4837-4839)acG>acA	p.T1613T	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1613							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGTGTCTTTCGTTGAACATG	0.438000														49			16		0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110084296	110084297	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:110084296_110084297GG>AA	uc004bde.3	+	6	1108_1109	c.714_715GG>AA	c.(712-717)gtggtt>gtAAtt	p.V239I	RAD23B_uc011lwa.2_Missense_Mutation_p.V239I|RAD23B_uc022blj.1_Missense_Mutation_p.V167I|RAD23B_uc011lwb.2_Missense_Mutation_p.V218I	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	239					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GTCAGGCTGTGGTTGACCCCCC	0.446000								Direct reversal of damage;Nucleotide excision repair (NER)						23			11		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240601402	240601402	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:240601402T>C	uc010pye.2	+	16	5189	c.4964T>C	c.(4963-4965)cTt>cCt	p.L1655P	FMN2_uc010pyd.2_Missense_Mutation_p.L1651P|FMN2_uc010pyg.2_Missense_Mutation_p.L247P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1651	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)			AAACCAAAACTTGGAGAGAAG	0.383000														61			43		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43619149	43619149	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:43619149C>T	uc001jal.3	+	16	3022	c.2832C>T	c.(2830-2832)atC>atT	p.I944I	RET_uc001jak.1_Silent_p.I944I|RET_uc010qez.1_Silent_p.I690I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	944	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGTGGGAGATCGTGACCCTAG	0.607000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					142			38		0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266263	225266263	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:225266263C>T	uc002vnx.3	-	0	449	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FAM124B_uc002vnw.3_Missense_Mutation_p.E75K	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	75							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CCCGGGCTTTCGTGCAGGAAG	0.577000														36			13		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809486	18809486	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:18809486G>A	uc001bax.3	+	0	2063	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E453K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	671						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCACGGCCGAGATGGTGGC	0.697000														61			9		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216300	20216300	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:20216300C>T	uc010tkt.2	+	0	714	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	238			F -> L (in dbSNP:rs12896533).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAAGGTCTTCTCTACCTGTG	0.473000														85			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139140	90139140	+	RNA	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:90139140C>T	uc010yts.2	+	29		c.3323C>T								Parts of antibodies, mostly variable regions.																		TCCTGGGGCTCCTGCTGCTCT	0.512000														189			12		0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473805	99473805	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:99473805C>T	uc003usc.1	-	0	852	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAGAGAATTCAATGTGGGCG	0.453000														80			25		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73061268	73061268	+	RNA	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:73061268A>G	uc004ebm.1	-	0		c.11321T>C								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGGAGCTAGTAGGGCAAACTG	0.393000														39			8		0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198266337	198266337	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:198266337C>T	uc001gun.4	+	8	1092	c.765C>T	c.(763-765)taC>taT	p.Y255Y	NEK7_uc021pgx.1_Silent_p.Y255Y	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	255	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AGTGTGACTACCCACCTCTTC	0.368000														93			14		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107494	133107494	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:133107494G>A	uc001lkp.3	-	1	497	c.411C>T	c.(409-411)gtC>gtT	p.V137V		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	137										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GATGTGGGAAGACGGGCACCA	0.498000														40			23		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947432	145947433	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:145947432_145947433GG>AA	uc003zdv.4	-	4	1868_1869	c.1612_1613CC>TT	c.(1612-1614)ccc>TTc	p.P538F		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P538P(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTCTCCAGTGGGAATCTGTCCA	0.480000														83			6		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186080	53186080	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:53186080C>T	uc001say.3	-	4	1197	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	377	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TATCCTCATACTGTGCACGAA	0.537000														27			5		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201052336	201052336	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:201052336G>A	uc001gvv.3	-	9	1574	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	449					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCTCTGAGGCGATAGACAGGG	0.562000														59			29		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130777983	130777983	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:130777983T>C	uc003ysr.3	-	3	1343	c.461A>G	c.(460-462)aAc>aGc	p.N154S		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	154						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CACGTACAGGTTGTCCCCTCT	0.468000														51			7		0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713295	30713295	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:30713295G>A	uc003ceo.3	+	3	1002	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	TGFBR2_uc021wut.1_Missense_Mutation_p.R85Q|TGFBR2_uc003cen.3_Missense_Mutation_p.R232Q	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	207					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGCAAGACGCGGAAGCTCATG	0.537000														23			9		0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221800	56221800	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:56221800G>A	uc001shu.2	-	0	699	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	DNAJC14_uc001shx.1_Missense_Mutation_p.P215S|DNAJC14_uc009zob.1_Missense_Mutation_p.P215S|DNAJC14_uc001shy.1_Missense_Mutation_p.P215S	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	215					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGGGACCTGGGATCCCTACGT	0.582000														37			4		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048610	6048610	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:6048610A>G	uc010qzw.2	-	0	362	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCATGATGAACATCTGGAGG	0.547000														59			16		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21069510	21069510	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:21069510C>T	uc010vbe.2	-	26	3821	c.3821G>A	c.(3820-3822)cGa>cAa	p.R1274Q		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1274	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)		CCAGTGATTTCGAGGGACCTG	0.507000														42			5		0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44136280	44136280	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:44136280C>T	uc001rns.4	-	4	1422	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T	PUS7L_uc001rnq.4_Missense_Mutation_p.A448T|PUS7L_uc001rnr.4_Missense_Mutation_p.A448T|PUS7L_uc009zkb.3_Missense_Mutation_p.A135T	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	448	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCAGCAAAGCTAGTCCAATT	0.343000														41			5		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123286316	123286316	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:123286316C>T	uc001udc.3	+	8	1785	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Silent_p.S302S|CCDC62_uc021rfn.1_Silent_p.S356S	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	541						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TCAAGCCTTCCAAAATGCAGA	0.502000														176			51		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68201220	68201220	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:68201220G>A	uc001ont.3	+	17	3989	c.3914G>A	c.(3913-3915)tGc>tAc	p.C1305Y	LRP5_uc009ysg.3_Missense_Mutation_p.C715Y	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1305	LDL-receptor class A 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTTCCCCTGCGCGCGGGGT	0.711000														79			35		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540076	113540076	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:113540076G>A	uc003iau.3	-	5	1333	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	C4orf21_uc003iaw.3_Silent_p.F374F	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	374										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACGTTTCAACGAACTGTATAA	0.353000														45			5		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212501	1212501	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:1212501G>A	uc003jbw.4	+	3	621	c.565G>A	c.(565-567)Gac>Aac	p.D189N		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	189					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)			GTCCATCAGCGACTCGGGCTC	0.622000														106			42		0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38942624	38942624	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:38942624C>T	uc003gtn.3	+	13	1831	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	FAM114A1_uc011byh.2_Silent_p.I317I|FAM114A1_uc010ifi.3_Silent_p.I182I	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	524						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCCATGATCAGTAGTGTAT	0.403000														33			7		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242165	26242165	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:26242165G>A	uc003abz.1	+	18	3717	c.3467G>A	c.(3466-3468)aGg>aAg	p.R1156K	MYO18B_uc003aca.1_Missense_Mutation_p.R1037K|MYO18B_uc010guy.1_Missense_Mutation_p.R1038K|MYO18B_uc010guz.1_Missense_Mutation_p.R1037K|MYO18B_uc011aka.1_Missense_Mutation_p.R310K|MYO18B_uc011akb.1_Missense_Mutation_p.R669K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1156	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCCCTGCAGAGGAGCCGCATG	0.667000														48			6		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7463332	7463332	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:7463332G>A	uc001qsx.1	+	2	610	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	204					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAGCTTCCAGGAGTTATTTCA	0.478000														13			4		0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15766991	15766991	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:15766991C>T	uc001awi.1	+	2	158	c.135C>T	c.(133-135)atC>atT	p.I45I	CTRC_uc001awj.1_Silent_p.I45I	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	45	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		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)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGCAGATCTCCCTCCAGT	0.612000														40			6		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123274651	123274651	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:123274651G>A	uc021pzz.1	-	8	1914	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	FGFR2_uc021pzv.1_Missense_Mutation_p.P311S|FGFR2_uc021pzw.1_Missense_Mutation_p.P308S|FGFR2_uc021pzx.1_Missense_Mutation_p.P334S|FGFR2_uc021pzy.1_Missense_Mutation_p.P424S|FGFR2_uc010qtl.2_Intron|FGFR2_uc010qtm.2_Missense_Mutation_p.P308S|FGFR2_uc021qaa.1_Missense_Mutation_p.P424S|FGFR2_uc021qab.1_Missense_Mutation_p.P335S|FGFR2_uc021qac.1_Missense_Mutation_p.P354S|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc001lfg.4_Missense_Mutation_p.P33S	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	423					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)	CTCCGCAGGGGGATACGTTTG	0.498000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					76			22		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127714545	127714545	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:127714545C>T	uc003kuu.3	-	11	2081	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	FBN2_uc003kuv.2_Missense_Mutation_p.D515N	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	548	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTAACACAATCTCCATTAGTG	0.393000														68			24		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65392408	65392408	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:65392408C>T	uc011moz.2	+	2	678	c.541C>T	c.(541-543)Cct>Tct	p.P181S	HEPH_uc004dwn.3_Missense_Mutation_p.P130S|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Missense_Mutation_p.P130S|HEPH_uc011mpa.2_Missense_Mutation_p.P130S	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	127	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TACCATCCACCCTCATGGTGT	0.493000														87			17		0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21486619	21486619	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:21486619G>A	uc001vyy.3	-	13	1008	c.858C>T	c.(856-858)ctC>ctT	p.L286L	NDRG2_uc010tll.2_Silent_p.L282L|NDRG2_uc001vyt.3_Silent_p.L199L|NDRG2_uc001vyu.3_Silent_p.L243L|NDRG2_uc001vyv.3_Silent_p.L272L|NDRG2_uc001vyw.3_Silent_p.L272L|NDRG2_uc001vzb.3_Silent_p.L226L|NDRG2_uc001vyx.3_Silent_p.L286L|NDRG2_uc001vza.3_Silent_p.L272L|NDRG2_uc001vyz.3_Silent_p.L272L|NDRG2_uc001vzc.3_Intron|NDRG2_uc010aig.3_Silent_p.L275L|NDRG2_uc001vze.3_Silent_p.L286L|NDRG2_uc001vzd.3_Silent_p.L286L|NDRG2_uc001vzg.3_Silent_p.L272L|NDRG2_uc001vzf.3_Silent_p.L272L	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	286					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TACTGACCTTGAGGAACGAGG	0.582000														15			6		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20436798	20436798	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:20436798C>T	uc001iqg.1	+	5	1387	c.750C>T	c.(748-750)ctC>ctT	p.L250L	PLXDC2_uc001iqh.1_Silent_p.L201L|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	250						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						CAACCCTGCTCATGGATGGAC	0.453000														31			6		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967519	4967519	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:4967519G>A	uc010qys.2	-	0	812	c.812C>T	c.(811-813)cCc>cTc	p.P271L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTAATGAGGGGAGAGACATG	0.448000														90			19		0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145796966	145796966	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:145796966C>T	uc003evr.1	-	12	1943	c.1437G>A	c.(1435-1437)agG>agA	p.R479R	PLOD2_uc003evq.1_Silent_p.R139R|PLOD2_uc011bnm.1_Silent_p.R424R|PLOD2_uc003evs.1_Silent_p.R479R	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	479					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CAAAATAGTTCCTTTCATTCA	0.373000														73			23		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898594	160898594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:160898594C>T	uc002ube.2	-	2	821	c.609G>A	c.(607-609)tgG>tgA	p.W203*	PLA2R1_uc010zcp.2_Nonsense_Mutation_p.W203*|PLA2R1_uc002ubf.3_Nonsense_Mutation_p.W203*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	203	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCGTGGCACACCACAGTAAGT	0.448000														65			20		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187557879	187557879	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:187557879C>T	uc003izf.3	-	4	4020	c.3832G>A	c.(3832-3834)Gac>Aac	p.D1278N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1278	Cadherin 11.				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						TCATCCTTGTCGGTGGCTATG	0.498000										HNSCC(5;0.00058)				157			28		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835764	82835764	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:82835764C>T	uc003kii.3	+	7	7298	c.6942C>T	c.(6940-6942)ctC>ctT	p.L2314L	VCAN_uc003kij.3_Silent_p.L1327L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.L978L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2314	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGGACCACTCGTATCTCAAA	0.413000														65			40		0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170345807	170345807	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:170345807G>A	uc003isd.2	-	30	3697	c.3119C>T	c.(3118-3120)tCc>tTc	p.S1040F	NEK1_uc003ise.2_Missense_Mutation_p.S996F|NEK1_uc003isb.2_Missense_Mutation_p.S1012F|NEK1_uc003isc.2_Missense_Mutation_p.S968F|NEK1_uc003isf.2_Missense_Mutation_p.S943F	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	1012					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)		AAATGCAAAGGATTCTTCTGG	0.398000														34			5		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86960073	86960073	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:86960073C>T	uc001dlt.3	+	10	2144	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	CLCA1_uc001dls.1_Silent_p.A567A	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	628					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGTCACAGCCCTGATTGAAT	0.438000														27			13		0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660852	100660852	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:100660852C>T	uc009ztv.1	-	0	6	c.3G>A	c.(1-3)atG>atA	p.M1I	SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.M1I|DEPDC4_uc001thj.1_Missense_Mutation_p.M1I|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	1					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CCCCTGGCACCATAGCCCCGC	0.652000														57			17		0	0	1	0	0
EIF2A	83939	broad.mit.edu	37	3	150293442	150293442	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:150293442G>A	uc003eya.3	+	10	1406	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	SERP1_uc003exz.3_Intron|EIF2A_uc003eyb.3_Missense_Mutation_p.E337K|EIF2A_uc003eyc.3_Missense_Mutation_p.E337K|EIF2A_uc011bnv.2_Missense_Mutation_p.E439K|EIF2A_uc011bnw.2_Missense_Mutation_p.E403K|EIF2A_uc003eyd.3_Missense_Mutation_p.E239K|BC039424_uc003eye.2_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	Homo sapiens eukaryotic translation initiation factor 2A, 65kDa (EIF2A), mRNA.	464					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|tRNA binding|translation initiation factor activity			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATAGCATGAAGAGGAACCACC	0.333000														21			3		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999685	113999685	+	Silent	SNP	G	C	C	rs61730086		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:113999685G>C	uc010yxt.2	-	5	667	c.501C>G	c.(499-501)ccC>ccG	p.P167P	PAX8_uc010yxu.2_Silent_p.P167P|PAX8_uc002tjm.3_Silent_p.P167P|PAX8_uc002tjn.3_Silent_p.P167P|PAX8_uc010fku.1_Silent_p.P167P|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.	167					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						GTGACTCCGGGGGAGTTACAG	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis							26			5		0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44589345	44589345	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:44589345C>T	uc002zdd.1	+	0	205	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	46					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CACCATCAGCCCCTACTACCG	0.632000														109			22		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10629238	10629238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:10629238G>A	uc002wnw.2	-	11	2044	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*	JAG1_uc010gcd.1_Nonsense_Mutation_p.Q68*	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	510	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGACACTGGAATCTGTTG	0.517000									Alagille Syndrome					37			11		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126091083	126091083	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:126091083C>T	uc003yrt.3	-	5	937	c.608G>A	c.(607-609)aGa>aAa	p.R203K	KIAA0196_uc011lir.2_Missense_Mutation_p.R55K	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	203					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTTGGATGGTCTTTTGGCACC	0.428000														85			8		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379081	113379081	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:113379081G>A	uc003eam.3	-	6	1859	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	KIAA2018_uc003eal.3_Missense_Mutation_p.S427F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	483					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGCTGGAAAGGAATTATTCAA	0.448000														44			17		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546150	11546150	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:11546150G>C	uc010shk.1	-	2	897	c.862C>G	c.(862-864)Cca>Gca	p.P288A		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.P288A(1)|p.P267A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGGTCCT	0.617000														362			10		0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80762760	80762760	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:80762760C>T	uc002bfr.3	+	3	562	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ARNT2_uc002bfq.3_Silent_p.F132F|ARNT2_uc010unm.2_Silent_p.F121F|ARNT2_uc002bfs.3_Silent_p.F121F	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	132					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGCCTTCCTTCCTCACAGAGC	0.567000														64			9		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28270008	28270008	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:28270008C>T	uc003nky.3	+	6	2797	c.2377C>T	c.(2377-2379)Cgg>Tgg	p.R793W	PGBD1_uc003nkz.3_Missense_Mutation_p.R793W	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	793					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTGGATTTTCGGAGATTTGT	0.403000														37			14		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471015	31471015	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:31471015G>A	uc010vfn.2	+	2	579	c.455G>A	c.(454-456)gGa>gAa	p.G152E	ARMC5_uc010vfo.2_Missense_Mutation_p.G89E|ARMC5_uc002ecc.3_Missense_Mutation_p.G57E|ARMC5_uc002eca.4_Missense_Mutation_p.G57E|ARMC5_uc002ecb.2_Missense_Mutation_p.G57E|ARMC5_uc010vfp.2_Missense_Mutation_p.G57E	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	57							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCAGCGGGGGGAATCGAGCGC	0.746000														13			6		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125627312	125627312	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:125627312A>G	uc010flu.3	+	20	3773	c.3409A>G	c.(3409-3411)Agg>Ggg	p.R1137G	CNTNAP5_uc002tno.3_Missense_Mutation_p.R1136G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1136	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			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)		CAGGGTTATAAGGTCACTCAC	0.413000														11			5		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970842	151970842	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:151970842G>A	uc003wla.3	-	6	1179	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	320					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.D319V(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)		AGATGTGACTGAAATCCTGAA	0.413000			N		medulloblastoma									168			8		0	0	1	0	0
BC019672	0	broad.mit.edu	37	17	20320050	20320050	+	RNA	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:20320050G>A	uc002gwx.3	+	0		c.629G>A								Homo sapiens, clone IMAGE:4938453, mRNA.																		ACTCAGAGAAGCAGAGGAACT	0.547000														21			8		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895479	145895480	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:145895479_145895480CC>TT	uc003lod.1	-	0	197_198	c.197_198GG>AA	c.(196-198)tgg>tAA	p.W66*		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	66						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTTCCTTTCCAAGCATTGTG	0.545000														59			13		0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73809246	73809246	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:73809246A>G	uc002jpm.3	+	5	938	c.938A>G	c.(937-939)tAc>tGc	p.Y313C	UNK_uc021udd.1_Missense_Mutation_p.Y237C	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	237							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCCCTACTACCACAACAGC	0.642000														7			4		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108010919	108010919	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:108010919G>A	uc001tmk.1	+	7	2576	c.2055G>A	c.(2053-2055)gaG>gaA	p.E685E	BTBD11_uc009zut.1_Silent_p.E685E|BTBD11_uc001tmj.3_Silent_p.E685E|BTBD11_uc001tml.1_Silent_p.E222E	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	685						integral to membrane	DNA binding	p.E684K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGGCGAGGAGAACTACTCGG	0.602000														83			19		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640024	7640024	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:7640024C>T	uc001qsz.3	-	7	2109	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	CD163_uc001qta.3_Missense_Mutation_p.D661N|CD163_uc009zfw.2_Missense_Mutation_p.D694N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	661	SRCR 6.				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						ACAGGACAATCTCCCATGTGC	0.507000														45			13		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139732998	139732998	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:139732998C>T	uc003yvd.3	-	26	2786	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E	COL22A1_uc011ljo.2_Missense_Mutation_p.G80E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	780	Collagen-like 6.|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)			GCCTGGTTTTCCAGGCAGACC	0.473000										HNSCC(7;0.00092)				233			40		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171702028	171702028	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:171702028C>G	uc002ugi.3	+	7	1186	c.764C>G	c.(763-765)tCc>tGc	p.S255C		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	255					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)	GGCGCCATATCCAACATGTAC	0.502000														83			43		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48878827	48878827	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:48878827C>T	uc003xqk.2	+	8	1739	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	MCM4_uc003xql.2_Nonsense_Mutation_p.Q305*|MCM4_uc011ldi.2_Nonsense_Mutation_p.Q292*	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	305					DNA strand elongation involved in DNA replication|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|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGCCTTCTTCCAGTGCCAAGT	0.622000														54			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065681	9065681	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:9065681C>T	uc002mkp.3	-	2	21969	c.21765G>A	c.(21763-21765)gtG>gtA	p.V7255V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7257	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						AGCTTGTCTCCACAGAACTGC	0.483000														61			58		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99091066	99091066	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:99091066C>T	uc001vnh.3	+	20	2615	c.2376C>T	c.(2374-2376)atC>atT	p.I792I	FARP1_uc001vnj.3_Silent_p.I761I	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	761	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding	p.R791W(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGAGTTCATCCGTCTGGGCA	0.627000														88			23		0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170952	104170952	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:104170952C>T	uc004bbh.1	+	2	1178	c.902C>T	c.(901-903)tCa>tTa	p.S301L	ZNF189_uc004bbg.1_Missense_Mutation_p.S259L|ZNF189_uc004bbi.1_Missense_Mutation_p.S287L|ZNF189_uc011lvk.1_Missense_Mutation_p.S286L|ZNF189_uc022ble.1_Missense_Mutation_p.S206L	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	301					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGTCGAAATTCATTGCTTGTT	0.403000														90			40		0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50388358	50388358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:50388358G>A	uc021thx.1	-	3	584	c.424C>T	c.(424-426)Caa>Taa	p.Q142*	BRD7_uc002ege.2_Nonsense_Mutation_p.Q142*	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	142					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N141S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CTCATCAGTTGATTCAAAGCT	0.323000														19			14		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137226229	137226229	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:137226229G>A	uc003lby.3	+	1	147	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	PKD2L2_uc010jep.1_5'UTR|PKD2L2_uc003lbw.1_Missense_Mutation_p.E31K|PKD2L2_uc003lbx.3_Missense_Mutation_p.E31K	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	31						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CACACTTCAGGAATTGTTACT	0.289000														65			15		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92058250	92058250	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:92058250C>T	uc001xzs.1	-	22	2946	c.2806G>A	c.(2806-2808)Gat>Aat	p.D936N	CATSPERB_uc010aub.1_Missense_Mutation_p.D458N	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	936					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.D936N(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCCCTGCAATCCGAGAAAGCA	0.368000														65			7		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891314	29891314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:29891314G>A	uc010vec.2	-	8	1689	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.R412C|SEZ6L2_uc002dur.4_Missense_Mutation_p.R412C|SEZ6L2_uc002duq.4_Missense_Mutation_p.R482C|SEZ6L2_uc010ved.2_Missense_Mutation_p.R438C|SEZ6L2_uc002dus.4_Missense_Mutation_p.R368C	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	482	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCTGGGCGATACTCAGGG	0.587000														75			20		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62547884	62547884	+	Silent	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:62547884T>C	uc001jld.3	+	4	527	c.385T>C	c.(385-387)Tta>Cta	p.L129L	CDK1_uc010qii.2_3'UTR|CDK1_uc021prh.1_3'UTR|CDK1_uc001jlg.3_Intron|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	129	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of mitotic cell cycle|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	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						TCACAGAGACTTAAAACCTCA	0.358000														46			11		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36118893	36118893	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:36118893C>T	uc003zyv.3	+	17	2479	c.2393C>T	c.(2392-2394)tCc>tTc	p.S798F	RECK_uc003zyw.3_Missense_Mutation_p.S670F|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	798						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GAGCACAGCTCCGTCGCCGAG	0.607000														36			14		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47406997	47406997	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:47406997G>A	uc001cqp.4	-	0	160	c.109C>T	c.(109-111)Ctc>Ttc	p.L37F	CYP4A11_uc001cqq.2_Missense_Mutation_p.L37F|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	37					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGCAGGTAGAGCTGAACTGCC	0.607000														48			49		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2092727	2092727	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:2092727G>A	uc003wpx.4	+	36	4358	c.4220G>A	c.(4219-4221)gGc>gAc	p.G1407D	MYOM2_uc011kwi.2_Missense_Mutation_p.G832D	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1407	Ig-like C2-type 5.				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)		ACCATCAAAGGCGTGACCTCC	0.542000														67			10		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339111	124339111	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:124339111G>A	uc001lgk.1	+	9	803	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	DMBT1_uc001lgl.1_Missense_Mutation_p.A233T|DMBT1_uc001lgm.1_Missense_Mutation_p.A233T|DMBT1_uc021qaf.1_Missense_Mutation_p.A233T|DMBT1_uc021qag.1_Missense_Mutation_p.A233T|DMBT1_uc021qah.1_Missense_Mutation_p.A233T|DMBT1_uc009xzz.1_Missense_Mutation_p.A233T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.A85T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	233					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)				ATCCAGTTTGGCCCTGAGGCT	0.542000														316			101		0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143747187	143747187	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:143747187G>A	uc003ywp.3	-	1	805	c.291C>T	c.(289-291)ttC>ttT	p.F97F	JRK_uc003ywo.3_Silent_p.F97F|JRK_uc022bcb.1_Non-coding_Transcript|JRK_uc022bcc.1_5'Flank	NM_003724	NP_003715			Homo sapiens jerky homolog (mouse) (JRK), transcript variant 1, mRNA.													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				gcttccccaggaaccactcgt	0.652000														11			18		0	0	1	0	0
DSCR9	257203	broad.mit.edu	37	21	38593668	38593668	+	RNA	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:38593668A>G	uc010gnk.2	+	0		c.780A>G								Homo sapiens mRNA, complete cds.																		GACCACGCCTACAGCCGAAGA	0.657000														45			14		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644586	70644586	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:70644586G>A	uc001jos.2	+	2	1121	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	STOX1_uc001joq.3_Missense_Mutation_p.R235Q|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.R235Q	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	345						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGGCCCGTCCGAGATGAAGAT	0.423000														83			20		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44556885	44556885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:44556885G>A	uc003tlb.3	-	15	3345	c.3289C>T	c.(3289-3291)Cga>Tga	p.R1097*	NPC1L1_uc011kbw.2_Nonsense_Mutation_p.R1024*|NPC1L1_uc003tlc.3_Nonsense_Mutation_p.R1070*|NPC1L1_uc003tla.3_Nonsense_Mutation_p.R73*	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1097					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.R1097L(1)		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)	GCCAGCTCTCGAGCTGCCCGC	0.572000														80			22		0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739216	46739216	+	Missense_Mutation	SNP	C	T	T	rs149758859	by1000genomes	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:46739216C>T	uc021vgv.1	-	0	635	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	ATP6V1E2_uc002ruy.3_Missense_Mutation_p.R212Q	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	212					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGGCCATTCGTATTTCTGG	0.418000														63			21		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12647580	12647580	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:12647580C>T	uc002gno.2	+	7	1097	c.798C>T	c.(796-798)caC>caT	p.H266H	MYOCD_uc002gnn.2_Silent_p.H266H|MYOCD_uc002gnp.1_Silent_p.H170H|MYOCD_uc002gnq.2_5'UTR	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	266					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTAAATATCACCAGTACATTC	0.527000														50			22		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86189127	86189127	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:86189127G>A	uc002blv.1	+	9	4486	c.4316G>A	c.(4315-4317)aGt>aAt	p.S1439N	AKAP13_uc002blt.1_Missense_Mutation_p.S1439N|AKAP13_uc002blu.1_Missense_Mutation_p.S1439N|AKAP13_uc010bnf.1_Missense_Mutation_p.S79N|AKAP13_uc010bne.1_Missense_Mutation_p.S92N	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1439					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAATCTGGGAGTGATTCTGAC	0.428000														62			41		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815945	2815945	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:2815945T>G	uc002crk.3	+	10	5965	c.5416T>G	c.(5416-5418)Tca>Gca	p.S1806A	SRRM2_uc002crj.1_Missense_Mutation_p.S1710A|SRRM2_uc002crl.1_Missense_Mutation_p.S1806A|SRRM2_uc010bsu.1_Missense_Mutation_p.S1710A	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1806	Arg-rich.|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						GCGGAGCCGGTCAAGGTCGCG	0.607000														46			10		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451223	55451223	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:55451223C>T	uc002qih.4	-	3	1040	c.964G>A	c.(964-966)Gag>Aag	p.E322K	NLRP7_uc010esk.3_Missense_Mutation_p.E322K|NLRP7_uc002qig.4_Missense_Mutation_p.E322K|NLRP7_uc002qii.4_Missense_Mutation_p.E322K|NLRP7_uc010esl.3_Missense_Mutation_p.E350K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	322	NACHT.						ATP binding	p.V321V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGAAGCCCTCCACCCTTACG	0.617000														24			15		0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11977655	11977655	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:11977655C>T	uc001mjs.3	+	27	4764	c.4001C>T	c.(4000-4002)cCt>cTt	p.P1334L	USP47_uc001mjr.3_Missense_Mutation_p.P1266L|USP47_uc009ygi.3_Missense_Mutation_p.P136L	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	1354					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ACATACTCACCTCGTAAAGAG	0.393000														74			14		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193220354	193220354	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:193220354G>A	uc003ftd.3	-	2	417	c.309C>T	c.(307-309)ctC>ctT	p.L103L	ATP13A4_uc003fte.1_Silent_p.L103L|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	103					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTCAGGAGTGAGACCAAATG	0.413000														46			9		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253032	124253032	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:124253032C>T	uc010sai.2	-	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TAACAGAGATCAATGAAGGAG	0.403000														71			4		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277249	152277249	+	Silent	SNP	G	A	A	rs141599535		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:152277249G>A	uc001ezu.1	-	2	10149	c.10113C>T	c.(10111-10113)tcC>tcT	p.S3371S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3371	Ser-rich.		S -> F (in dbSNP:rs3120647).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3370Q(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)			GGTCACGTGCGGACTCTTGGT	0.587000									Ichthyosis					285			239		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830235	147830235	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:147830235C>T	uc003ikx.4	-	5	671	c.421G>A	c.(421-423)Gat>Aat	p.D141N	TTC29_uc003ikw.4_Missense_Mutation_p.D115N|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.D115N	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	115							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCCAGTTTATCAGGCTGCTCC	0.592000														62			7		0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50039604	50039605	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:50039604_50039605GG>AA	uc001ruv.1	-	25	3311_3312	c.3077_3078CC>TT	c.(3076-3078)ccc>cTT	p.P1026L	FMNL3_uc001ruw.1_Missense_Mutation_p.P975L|FMNL3_uc001rut.1_Missense_Mutation_p.P592L|FMNL3_uc001ruu.1_3'UTR	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	530					actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGTCTCAGTGGGGGCCTGGAGC	0.634000														24			5		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300733	103300733	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:103300733C>T	uc002tca.3	+	4	1505	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	455						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTGTGTTTCCTCGGAAAAA	0.428000														106			25		0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205697	20205697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:20205697G>A	uc002rdl.3	-	1	661	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	MATN3_uc010exu.1_Nonsense_Mutation_p.Q200*	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	200	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGGTCCTGGGGCCTCCCA	0.587000														25			5		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232557	5232557	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:5232557C>A	uc003jdl.3	+	11	1916	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S593Y|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	593	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W592*(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCGGACTGGTCTTCTTGGTCC	0.537000														69			31		6.00712e-18	6.10421e-18	1	1	0
ABCD3	5825	broad.mit.edu	37	1	94930338	94930338	+	Missense_Mutation	SNP	G	A	A	rs142075958	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:94930338G>A	uc010oto.2	+	3	329	c.227G>A	c.(226-228)gGg>gAg	p.G76E	ABCD3_uc001dqm.4_Missense_Mutation_p.G52E|ABCD3_uc001dqn.4_Missense_Mutation_p.G52E|ABCD3_uc010otp.2_5'UTR|ABCD3_uc009wdr.3_Missense_Mutation_p.G52E	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	52	Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P76H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CAGAAAGAGGGGAAAAAGGAG	0.353000														54			14		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920469	134920469	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:134920469G>A	uc003eqt.3	+	11	2659	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	EPHB1_uc003equ.3_Missense_Mutation_p.D323N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	762	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.S761S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAAGGTGTCCGACTTTGGCCT	0.537000														94			25		0	0	1	0	0
MAPRE2	10982	broad.mit.edu	37	18	32707010	32707010	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:32707010G>A	uc002kyg.3	+	4	889	c.709G>A	c.(709-711)Gat>Aat	p.D237N	MAPRE2_uc010xcb.2_Missense_Mutation_p.D194N|MAPRE2_uc010xcc.2_Missense_Mutation_p.D225N|MAPRE2_uc002kyf.2_Missense_Mutation_p.D237N|MAPRE2_uc002kyh.3_Missense_Mutation_p.D184N|MAPRE2_uc010xcd.2_Missense_Mutation_p.D194N	NM_014268	NP_001137298	Q15555	MARE2_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.	237	DCTN1-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ATCCAAATCCGATAAAGATTT	0.502000														50			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664166	22664166	+	RNA	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:22664166G>A	uc021wml.1	+	31		c.2608G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTGTCAGTGGGATAAGGGGGC	0.473000														117			5		0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2680505	2680505	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:2680505C>T	uc003mty.4	-	7	1005	c.708G>A	c.(706-708)gtG>gtA	p.V236V	MYLK4_uc003mtx.4_5'Flank	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	236	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CATCCCGATTCACACACAGGA	0.403000														142			29		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998973	173998973	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:173998973T>G	uc021xhm.1	+	6	2792	c.2472T>G	c.(2470-2472)atT>atG	p.I824M	NLGN1_uc003fio.1_Missense_Mutation_p.I784M|NLGN1_uc003fip.1_Missense_Mutation_p.I784M	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	801					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTACAATGATTCCCAACACTA	0.493000														67			17		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99697648	99697648	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:99697648C>T	uc003usw.1	-	1	610	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.4_5'Flank|AP4M1_uc003utd.3_5'Flank|AP4M1_uc011kjh.2_5'Flank|AP4M1_uc003ute.4_5'Flank|AP4M1_uc003utf.4_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	34					DNA strand elongation involved in DNA replication|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|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	AACTGGTTCCCATACTTGAAC	0.418000														35			9		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43615055	43615055	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:43615055G>A	uc001jal.3	+	13	2659	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G	RET_uc001jak.1_Silent_p.G823G|RET_uc010qez.1_Silent_p.G569G	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	823	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCAAAGTGGGGCCTGGCTACC	0.687000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					31			11		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882128	149882128	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:149882128G>A	uc001etg.3	-	4	1574	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SV2A_uc001eth.2_Silent_p.F361F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	361					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCACCTCTAGGAAGAAACGGG	0.607000														15			3		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31644399	31644399	+	Missense_Mutation	SNP	C	T	T	rs112217883	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:31644399C>T	uc002wym.1	+	1	176	c.176C>T	c.(175-177)tCg>tTg	p.S59L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	59	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GTGCTGGGATCGGTCACAGCT	0.597000														68			27		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063037	180063037	+	Silent	SNP	G	A	A	rs142980956		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:180063037G>A	uc001gnt.3	+	33	8180	c.7797G>A	c.(7795-7797)gaG>gaA	p.E2599E	CEP350_uc009wxl.2_Silent_p.E2598E|CEP350_uc001gnv.3_Silent_p.E734E|CEP350_uc001gnw.1_Silent_p.E356E|CEP350_uc001gnx.1_Silent_p.E356E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2599						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						ATGATACAGAGGGTCCAAAAG	0.353000														25			10		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701396	192701396	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:192701396G>A	uc002utb.3	-	1	886	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	177						caveola|cytosol	phosphatidylserine binding|protein binding	p.V176I(1)		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)	CCACGGCACCGGAAACGGGCT	0.488000														34			6		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672716	113672716	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:113672716C>T	uc003eau.3	+	2	630	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	ZDHHC23_uc003eav.3_Missense_Mutation_p.L105F	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	111						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CTGGCATTTCCTCCTGGGGGT	0.527000														161			42		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5632384	5632384	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:5632384A>C	uc001mbd.3	+	7	1626	c.1363A>C	c.(1363-1365)Aca>Cca	p.T455P	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.T401P|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.T252P|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.T427P|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.T252P|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.T252P|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.T252P|TRIM6-TRIM34_uc009yep.1_3'UTR	NM_001003818	NP_001185574	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 6 (TRIM6), transcript variant 1, mRNA.	781						intracellular	zinc ion binding	p.G455A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TCTCTCCATGACAGTGCCCCC	0.483000														92			27		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013928	74013928	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:74013928C>T	uc010wss.1	-	13	1896	c.1668G>A	c.(1666-1668)ctG>ctA	p.L556L	EVPL_uc002jqi.2_Silent_p.L534L|EVPL_uc010wst.1_Silent_p.L4L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	534	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCTCCATCCAGCCGGGTCA	0.677000														56			16		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149583514	149583515	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:149583514_149583515CC>TT	uc003lrr.3	+	9	1616_1617	c.1245_1246CC>TT	c.(1243-1248)ttccca>ttTTca	p.P416S		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	416						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CAGATGAGTTCCCATACTACCT	0.554000														30			11		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70897051	70897051	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:70897051C>T	uc002ezr.3	-	67	11654	c.11503G>A	c.(11503-11505)Gaa>Aaa	p.E3835K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3836										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)				CAGCTGAATTCCAGCTGGACA	0.488000														25			13		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567141	142567141	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:142567141C>T	uc003evd.3	-	2	673	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	122	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTGCACCATCATCTTGTTGC	0.517000														56			13		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000														130			4		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968221	35968221	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:35968221C>T	uc003jjv.2	-	2	404	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.E71K|UGT3A1_uc011cor.2_Missense_Mutation_p.E37K|UGT3A1_uc003jjy.2_Missense_Mutation_p.E17K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	71						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)			TATGATTTTTCCTCCTCTTTA	0.299000														9			4		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25670232	25670232	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:25670232C>T	uc003nfb.3	+	5	602	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SCGN_uc010jpz.3_Missense_Mutation_p.S43F	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	133	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACAGAACTTCCTCCGAGACC	0.398000														131			28		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995563	140995563	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:140995563C>T	uc004fbt.3	+	3	2697	c.2373C>T	c.(2371-2373)ctC>ctT	p.L791L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.L450L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	791							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)					CGAGTCTTCTCCAAAGTTCCC	0.572000										HNSCC(15;0.026)				217			57		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604337	140604337	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140604337G>A	uc003ljb.3	+	0	1260	c.1260G>A	c.(1258-1260)acG>acA	p.T420T		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	420	Cadherin 4.				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)			ACAACATCACGATCACCGTCA	0.488000														141			40		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89976386	89976386	+	RNA	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:89976386G>A	uc010yts.2	+	10		c.1683G>A								Parts of antibodies, mostly variable regions.																		GTCCCAGACAGATTCAGCGGC	0.502000														155			40		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192336	152192336	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:152192336C>T	uc001ezt.1	-	2	1845	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	590					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTGAGCGAGACTCTTG	0.557000														377			8		0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69649816	69649816	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:69649816G>A	uc011mpk.2	+	11	1571	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	GDPD2_uc010nky.2_Silent_p.L256L|GDPD2_uc004dyh.3_Missense_Mutation_p.G404R|GDPD2_uc011mpl.2_Missense_Mutation_p.G325R|GDPD2_uc011mpm.2_Missense_Mutation_p.G325R	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	404	GDPD.				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)					ACGGGCACCTGGAATGCGCCA	0.522000														43			10		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410669	5410669	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:5410669T>G	uc010qzc.2	+	0	63	c.41T>G	c.(40-42)cTa>cGa	p.L14R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	14						integral to membrane	olfactory receptor activity	p.L14L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCATGCTGCTATCCAACATT	0.398000														104			32		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773511	151773511	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:151773511C>T	uc001ezf.1	-	1	1860	c.1670G>A	c.(1669-1671)tGg>tAg	p.W557*	LINGO4_uc021oyu.1_Nonsense_Mutation_p.W557*	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	557						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCTTGCTCCAAAGGGCAAT	0.562000														130			32		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876556	45876556	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:45876556C>T	uc021wjs.1	+	0	29	c.29C>T	c.(28-30)tCg>tTg	p.S10L	LRRC3_uc002zfa.3_Missense_Mutation_p.S10L	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	10						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTCGCCCCTCGCTCCTGCTG	0.701000														78			12		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45281771	45281771	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:45281771G>A	uc003bfn.3	-	10	1396	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	PHF21B_uc011aqk.2_Silent_p.I361I|PHF21B_uc003bfm.3_Silent_p.I211I|PHF21B_uc011aql.2_Silent_p.I373I	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	415							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AAGAGTGCACGATGGCCAGCA	0.622000														168			36		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172280	90172280	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:90172280C>T	uc002bof.2	-	17	3668	c.3591G>A	c.(3589-3591)ctG>ctA	p.L1197L	KIF7_uc010upw.1_Silent_p.L683L	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	1197					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTAACGGCCCAGTTCCTTCT	0.562000														71			21		0	0	1	0	0
EPSTI1	94240	broad.mit.edu	37	13	43474449	43474449	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:43474449C>T	uc001uyw.1	-	9	921	c.845G>A	c.(844-846)aGg>aAg	p.R282K	EPSTI1_uc001uyx.1_Missense_Mutation_p.R271K	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	282										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GTTTTACCTCCTGTGTTCAGT	0.343000														28			7		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22149816	22149816	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:22149816C>T	uc010vbq.2	+	21	2371	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.P767S	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	759						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCCCACCGTCCCCCTGGGGGC	0.517000														29			6		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43672527	43672527	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:43672527T>C	uc021omk.1	+	9	1825	c.1679T>C	c.(1678-1680)gTt>gCt	p.V560A	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.V549A|WDR65_uc001ciq.2_Missense_Mutation_p.V560A|WDR65_uc001cip.2_Missense_Mutation_p.V560A	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	560										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)				TACAACTGTGTTACTGTCTCC	0.507000														42			15		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324247	161324247	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:161324247C>T	uc010jiw.3	+	10	1658	c.1190C>T	c.(1189-1191)cCt>cTt	p.P397L	GABRA1_uc010jix.3_Missense_Mutation_p.P397L|GABRA1_uc010jiy.3_Missense_Mutation_p.P397L|GABRA1_uc003lyx.4_Missense_Mutation_p.P397L|GABRA1_uc010jiz.3_Missense_Mutation_p.P397L|GABRA1_uc010jja.3_Missense_Mutation_p.P397L|GABRA1_uc010jjb.3_Missense_Mutation_p.P397L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	397					gamma-aminobutyric acid signaling pathway|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			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACCATAGAACCTAAAGAGGTC	0.483000														103			31		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699631	67699631	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:67699631C>T	uc001stn.2	+	9	2620	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	CAND1_uc001sto.2_Missense_Mutation_p.S238L	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	728					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCCTCCCTTTCAAAGATAAGT	0.433000														87			23		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184374	130184374	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:130184374C>T	uc009zyl.1	-	1	1277	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	317						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)		AAGCGATCTTCAGTGGAATTT	0.498000														40			4		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112506481	112506481	+	Silent	SNP	C	T	T	rs147069572		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:112506481C>T	uc003pvu.2	-	8	1344	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	LAMA4_uc003pvv.2_Silent_p.T338T|LAMA4_uc003pvt.2_Silent_p.T338T	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	345	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGCTTTTCATCGTGTTCTCAG	0.373000														91			21		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144059788	144059788	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:144059788G>A	uc003wel.3	+	1	144	c.26G>A	c.(25-27)gGa>gAa	p.G9E	ARHGEF5_uc003wek.3_Missense_Mutation_p.G9E	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	9					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.R8C(1)		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)					GCCCAGCGTGGAGCCTCTCCT	0.517000														62			11		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502391	20502391	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:20502391C>T	uc010tkz.2	-	0	527	c.527G>A	c.(526-528)aGc>aAc	p.S176N		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S176N(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ACAGAAAAAGCTGTCTATAAC	0.478000														54			18		0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663588	103663588	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:103663588G>A	uc011lhk.1	-	2	1126	c.972C>T	c.(970-972)ccC>ccT	p.P324P	KLF10_uc011lhj.1_Silent_p.P313P	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	324					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TCTGCACAACGGGCTGGGGTA	0.597000														73			13		0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133675	118133675	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:118133675G>A	uc001psn.3	-	1	579	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	MPZL2_uc001pso.3_Missense_Mutation_p.R66C	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	66	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	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;3.04e-05)		TCTAGAGGACGAAAATTCCAG	0.468000														89			34		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9730737	9730737	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:9730737C>T	uc003brz.3	+	15	1555	c.1404C>T	c.(1402-1404)gtC>gtT	p.V468V	MTMR14_uc003bsa.3_Silent_p.V468V|MTMR14_uc003bsb.3_Silent_p.V468V|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Silent_p.V222V|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Silent_p.V91V	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	468						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGGAGCTGGTCCCAGCAGGAG	0.647000														55			12		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10944788	10944788	+	Splice_Site	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:10944788C>T	uc002yip.1	-	11	815	c.447_splice	c.e11-1	p.R149_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.R131_splice|TPTE_uc002yir.1_Splice_Site_p.R111_splice|TPTE_uc010gkv.1_Splice_Site_p.R11_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	149					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)		CTGCTGTCTCCTGTAATATAA	0.313000														67			8		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653795	30653795	+	Silent	SNP	A	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:30653795A>C	uc001ivb.4	-	8	1759	c.387T>G	c.(385-387)ctT>ctG	p.L129L	MTPAP_uc001ivd.2_Non-coding_Transcript|DQ589067_uc001ive.1_5'Flank	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	0					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						GTTTCACCTGAAGGGAGGGGT	0.652000														12			5		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200647	52200647	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:52200647G>A	uc001ryw.3	+	26	5555	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K	SCN8A_uc010snl.2_Missense_Mutation_p.E1752K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1793					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGAGATCTGGGAGAAGTTCGA	0.512000														65			11		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7734088	7734089	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:7734088_7734089GG>AA	uc002giu.1	+	77	12172_12173	c.12158_12159GG>AA	c.(12157-12159)tgg>tAA	p.W4053*	DNAH2_uc010cnm.1_Nonsense_Mutation_p.W991*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4053					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)				ACAGATGACTGGGACCGGCGCC	0.545000														39			15		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851450	43851450	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:43851450C>T	uc010ggz.3	+	1	1234	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	SEMG2_uc002xnk.3_Missense_Mutation_p.P393S|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	393	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGTAAGAATTCCTAGTCAAGC	0.403000														57			29		0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29855800	29855800	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:29855800T>A	uc010jro.3	+	1	294	c.148T>A	c.(148-150)Tcc>Acc	p.S50T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	48	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	p.M49V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCGCTTCATCTCCGTCGGCTA	0.692000														26			3		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389482	150389482	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:150389482T>G	uc003who.3	+	2	196	c.108T>G	c.(106-108)agT>agG	p.S36R		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	36						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGCAAAAGTGCTGCAGGGA	0.512000														40			17		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17199325	17199325	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:17199325C>T	uc011aby.1	+	13	1713	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	USP25_uc002yjz.1_Missense_Mutation_p.S499L|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.S499L	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	499					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCCCTATCTTCAGAACTGCCA	0.433000														63			12		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20926337	20926337	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:20926337C>T	uc003zog.1	+	27	3362	c.2999C>T	c.(2998-3000)tCc>tTc	p.S1000F	FOCAD_uc003zoh.1_Missense_Mutation_p.S436F	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1000						integral to membrane	binding										GAGTGGGTTTCCATGGTACTT	0.333000														19			8		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583740	35583740	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:35583740C>T	uc003xjr.2	+	9	1702	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	UNC5D_uc003xjs.2_Silent_p.I453I|UNC5D_uc003xju.2_Silent_p.I34I|UNC5D_uc003xjt.1_Silent_p.I216I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	458					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCGGACCCATCTGTCTGCAGG	0.498000														41			13		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318009	30318010	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:30318009_30318010GG>AA	uc009xle.2	-	2	1204_1205	c.1067_1068CC>TT	c.(1066-1068)ccc>cTT	p.P356L	KIAA1462_uc001iux.3_Missense_Mutation_p.P356L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P218L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	356	Pro-rich.							p.P356L(2)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTCCAAGTAGGGGTTTGGGAT	0.609000														138			33		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49649426	49649426	+	Splice_Site	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:49649426T>C	uc001vcm.3	+	3	405	c.100_splice	c.e3-1	p.V34_splice	FNDC3A_uc001vcl.1_Splice_Site_p.V34_splice|FNDC3A_uc001vcn.3_Splice_Site_p.V34_splice|FNDC3A_uc001vco.3_Splice_Site	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	34						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATTTTTAAGGTTATTCTGGTA	0.303000														75			27		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358539	178358539	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:178358539C>T	uc003mjn.1	+	4	734	c.225C>T	c.(223-225)aaC>aaT	p.N75N	ZFP2_uc010jky.2_Silent_p.N75N|ZFP2_uc010jkx.1_Silent_p.N75N|ZFP2_uc021yjb.1_Silent_p.N75N	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H74R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GGCCCCATAACTGTAATTCAC	0.363000														37			15		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37309276	37309276	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:37309276T>A	uc003jku.1	-	23	2840	c.2722A>T	c.(2722-2724)Agc>Tgc	p.S908C	NUP155_uc003jkt.1_Missense_Mutation_p.S849C|NUP155_uc010iuz.1_Missense_Mutation_p.S844C	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	908					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTGATTGCTAATTTTTTGA	0.338000														29			7		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43262428	43262428	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr18:43262428G>A	uc002lbe.3	+	19	3523	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	SLC14A2_uc010dnj.3_Missense_Mutation_p.E903K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	903						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGTCCCAGGAGAGAAACAG	0.498000														83			15		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836649	142836649	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:142836649G>A	uc003wcf.1	+	3	391	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	119						extracellular region	actin binding	p.R118L(1)|p.R118R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TGTTATTCGGGAATTAGGCAT	0.453000														107			27		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133434	22133434	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:22133434C>T	uc010tmd.2	+	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCTCATCATCATTGCCACAG	0.443000														120			42		0	0	1	0	0
NEIL1	79661	broad.mit.edu	37	15	75641541	75641541	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:75641541C>T	uc002bae.3	+	1	706	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	NEIL1_uc002bad.3_Silent_p.L99L	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	99					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CCATGCCCACCTGCGCTTTTA	0.697000								Base excision repair (BER), DNA glycosylases						62			7		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24849437	24849437	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:24849437A>G	uc003sxf.3	-	19	2711	c.2306T>C	c.(2305-2307)gTa>gCa	p.V769A	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.V733A|OSBPL3_uc003sxh.3_Missense_Mutation_p.V738A|OSBPL3_uc003sxi.3_Missense_Mutation_p.V702A	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	769					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGCTCTCCATACACAGGCAGA	0.547000														35			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061397	9061397	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:9061397C>T	uc002mkp.3	-	2	26253	c.26049G>A	c.(26047-26049)ggG>ggA	p.G8683G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8685	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						CACTTGTATTCCCCAGAGTGG	0.463000														33			25		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110491869	110491869	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:110491869G>A	uc004epc.2	-	9	1603	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	CAPN6_uc011msu.2_Missense_Mutation_p.P216L	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	471	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAACATGGTTGGGACAAGCAC	0.522000														31			10		0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	C	C	rs1062001		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000														15			4		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269216	1269216	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:1269216G>A	uc001lta.3	+	30	11165	c.11106G>A	c.(11104-11106)acG>acA	p.T3702T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3702	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|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)		CAGCCACTACGACTGAGTCCA	0.667000														277			52		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23833320	23833320	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:23833320C>T	uc003gqs.3	-	2	409	c.289G>A	c.(289-291)Gac>Aac	p.D97N	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	97					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGGAGACTGTCTAGTGTCTCT	0.488000														164			22		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	87408255	87408255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:87408255C>T	uc002ssh.3	+	1	86	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	RMND5A_uc002srs.4_Intron			Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1, mRNA (cDNA clone IMAGE:3834642), partial cds.	1662					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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 K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGAACTCCATCTTTTAAAGCA	0.433000														16			8		0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38271542	38271542	+	Splice_Site	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:38271542C>T	uc022aua.1	-	17	3129	c.2187_splice	c.e17-1	p.L729_splice	FGFR1_uc010lwf.3_Splice_Site|FGFR1_uc011lbu.2_Splice_Site_p.L760_splice|FGFR1_uc011lbv.2_Splice_Site_p.L727_splice|FGFR1_uc011lbw.2_Splice_Site_p.L640_splice|FGFR1_uc003xlp.3_Splice_Site_p.L727_splice|FGFR1_uc022aub.1_Splice_Site_p.L727_splice|FGFR1_uc022auc.1_Splice_Site_p.L640_splice|FGFR1_uc022aud.1_Splice_Site_p.L638_splice|FGFR1_uc010lwk.3_Splice_Site_p.L719_splice	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	729	Protein kinase.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CATCATGTACCTGCGGCAGGA	0.607000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							18			3		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89399792	89399792	+	Splice_Site	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:89399792G>A	uc021vkt.1	-	60		c.5064_splice	c.e60+1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		AGAGCAGCAGGAGCCCCAGGA	0.512000														76			23		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222734	5222734	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:5222734G>A	uc002mbv.3	-	17	3303	c.3069C>T	c.(3067-3069)ccC>ccT	p.P1023P	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Silent_p.P1001P|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1023	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCGGACGGGGGGGCTGAAGG	0.751000														16			22		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749104	30749104	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:30749104C>T	uc002dze.1	+	33	8128	c.7743C>T	c.(7741-7743)ccC>ccT	p.P2581P	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P2376P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2581	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCTTGTGCCCCCTAAAGATC	0.572000														41			9		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113240985	113240985	+	Splice_Site	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:113240985C>T	uc003ynu.3	-	70	11123	c.10964_splice	c.e70+1	p.R3655_splice	CSMD3_uc003yns.3_Splice_Site_p.R2857_splice|CSMD3_uc003ynt.3_Splice_Site_p.R3615_splice|CSMD3_uc011lhx.2_Splice_Site_p.R3486_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3655						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						ATGAGCTTACCTTTGTTTATA	0.303000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				47			14		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377752	113377752	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:113377752G>A	uc003eam.3	-	6	3188	c.2777C>T	c.(2776-2778)cCa>cTa	p.P926L	KIAA2018_uc003eal.3_Missense_Mutation_p.P870L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	926					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACTACTTGGTGGTTTATC	0.423000														105			20		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788535	42788535	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:42788535C>T	uc002xli.1	-	1	1765	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	298					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGCGTTTGTCGTTCTTCCAC	0.682000														31			11		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	53814261	53814261	+	Silent	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:53814261A>G	uc001jjm.3	+	5	963	c.735A>G	c.(733-735)ggA>ggG	p.G245G	PRKG1_uc001jjn.2_Silent_p.G260G|PRKG1_uc001jjo.3_Silent_p.G260G|PRKG1_uc009xow.2_5'UTR	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	245					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATGAAAATGGAGAATATATTA	0.413000														37			9		0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42284434	42284434	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:42284434C>T	uc002rsg.3	+	5	1475	c.1296C>T	c.(1294-1296)agC>agT	p.S432S		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA.	432	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						ACCACGGGAGCTGCCTCCTTT	0.577000														115			20		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110759929	110759929	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:110759929G>A	uc003puf.3	-	4	1372	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	SLC22A16_uc003pue.3_Silent_p.I416I	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	435					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TCACCTGGGGGATCACCATAA	0.448000														60			9		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68620305	68620305	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:68620305G>A	uc002sen.4	+	6	936	c.774G>A	c.(772-774)agG>agA	p.R258R	PLEK_uc010fde.3_Silent_p.R258R	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	258	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGCATAGAAGGAAAAACTGGA	0.428000														107			43		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74533264	74533264	+	Silent	SNP	T	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:74533264T>G	uc003php.3	+	32	4676	c.4245T>G	c.(4243-4245)ccT>ccG	p.P1415P	CD109_uc003phq.3_Silent_p.P1398P|CD109_uc010kba.3_Silent_p.P1338P	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1415						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R1414C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGCCGTCCTTGTGAGGATG	0.453000														64			18		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50342356	50342356	+	Splice_Site	SNP	A	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:50342356A>T	uc002xwg.1	-	3	327	c.327_splice	c.e3+1	p.L109_splice	ATP9A_uc010gih.1_Splice_Site_p.L94_splice	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	109					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						CGATTAACTTACCAGGGGAAC	0.418000														51			10		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400185	85400185	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:85400185C>T	uc002ble.3	+	5	2989	c.2822C>T	c.(2821-2823)cCc>cTc	p.P941L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	941					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)			TCCAGAACCCCCAAACTCCCA	0.567000														153			31		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821067	206821067	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:206821067C>T	uc001hej.3	+	2	692	c.524C>T	c.(523-525)gCc>gTc	p.A175V	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.A155V	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	175					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A175V(1)|p.A140V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTCCAAATGCCAAGAAAAGA	0.408000														112			31		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132535009	132535009	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:132535009C>T	uc003kyn.1	-	15	2525	c.2307G>A	c.(2305-2307)ggG>ggA	p.G769G	FSTL4_uc003kym.1_Silent_p.G418G	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	769						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCCACCTTCCCCGTGGACA	0.592000														32			16		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128626749	128626749	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:128626749T>C	uc003ifk.2	+	10	1673	c.1570T>C	c.(1570-1572)Tat>Cat	p.Y524H	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	524										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATTCAAGGGTTATTTGATATG	0.378000														61			8		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833922	160833922	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:160833922G>A	uc002ube.2	-	14	2486	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	PLA2R1_uc010zcp.2_Silent_p.V758V|PLA2R1_uc002ubf.3_Silent_p.V758V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	758	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAAACGAAGAGACAACCTGCA	0.393000														39			12		0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102379059	102379059	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:102379059G>A	uc001vpf.2	-	3	621	c.525C>T	c.(523-525)gcC>gcT	p.A175A	FGF14_uc001vpe.2_Silent_p.A170A	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	170					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCAAAAACCAGGCTCTACCAG	0.378000														32			8		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124821423	124821423	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:124821423C>T	uc021rga.1	-	37	6129	c.6012G>A	c.(6010-6012)aaG>aaA	p.K2004K	NCOR2_uc021rgb.1_Silent_p.K1988K|NCOR2_uc010tbb.2_Silent_p.K1997K|NCOR2_uc010tbc.2_Silent_p.K1987K|NCOR2_uc021rgc.1_Silent_p.K1987K|NCOR2_uc010tax.2_Silent_p.K118K	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2008					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTGCGAGGTTCTTCGCAGGGG	0.706000														31			4		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595254	216595254	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:216595254G>A	uc001hku.1	-	1	812	c.425C>T	c.(424-426)cCa>cTa	p.P142L	USH2A_uc001hkv.3_Missense_Mutation_p.P142L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	142					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)		CATCAGCTTTGGAGAAGGAGG	0.413000										HNSCC(13;0.011)				73			11		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281175	152281175	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:152281175C>T	uc001ezu.1	-	2	6223	c.6187G>A	c.(6187-6189)Gga>Aga	p.G2063R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2063	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)			CCAGCTTTTCCCTGTGCTGAC	0.567000									Ichthyosis					325			100		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31427835	31427835	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:31427835C>T	uc010cap.1	+	19	2419	c.2370C>T	c.(2368-2370)acC>acT	p.T790T	ITGAD_uc002ebv.1_Silent_p.T789T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	789					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCTGCAGACCCTGACCGTGG	0.602000														91			15		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013495	133013495	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:133013495C>T	uc003qdo.3	-	4	1075	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	352					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)		TGTATAATTTCCTGCAACTCC	0.403000														48			21		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481750	95481750	+	Splice_Site	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:95481750C>T	uc010fhq.2	-	2	630	c.238_splice	c.e2-1	p.D80_splice	ANKRD20A2_uc010fhp.3_Splice_Site	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	500										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTATGAAAATCCTAAATAAAA	0.303000														40			9		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116048759	116048759	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:116048759G>A	uc001lbl.1	+	11	1954	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	VWA2_uc001lbk.1_Missense_Mutation_p.E545K|VWA2_uc009xyf.1_Missense_Mutation_p.E241K	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	545	VWFA 3.					extracellular region		p.P544T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGTAGGGCCCGAGAATTTTGC	0.582000														50			15		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49063549	49063549	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:49063549G>A	uc004dnb.3	-	43	5243	c.5181C>T	c.(5179-5181)ttC>ttT	p.F1727F	CACNA1F_uc010nip.3_Silent_p.F1716F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1727					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)	CTGGGATGGTGAAAATGAGAG	0.547000														11			3		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31189098	31189098	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:31189098G>T	uc002rns.3	-	3	1025	c.385C>A	c.(385-387)Cgc>Agc	p.R129S	GALNT14_uc002rnq.3_Missense_Mutation_p.R104S|GALNT14_uc010ymr.2_Missense_Mutation_p.R89S|GALNT14_uc002rnr.3_Missense_Mutation_p.R124S|GALNT14_uc010ezo.2_Intron|GALNT14_uc010ezp.1_Missense_Mutation_p.R95S	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	124	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGCGTGGAGCGGGCCTCGTTG	0.592000														30			7		1.06961e-07	1.08035e-07	1	1	0
USP25	29761	broad.mit.edu	37	21	17250704	17250704	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:17250704G>A	uc011aby.1	+	25	3505	c.3288G>A	c.(3286-3288)ccG>ccA	p.P1096P	USP25_uc002yjz.1_Silent_p.P1058P|USP25_uc010gla.1_Silent_p.P421P|USP25_uc002yjy.1_Silent_p.P1026P	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	1026					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P1026P(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATGAGCCACCGAAGTTACCTT	0.423000														40			9		0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48955457	48955457	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:48955457G>A	uc001vcb.3	+	16	1739	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	525	Domain A.|Pocket; binds T and E1A.		A -> G (in dbSNP:rs4151539).		G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.K524fs*28(2)|p.A525A(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATTTAAAAGCCTTTGATTT	0.308000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				18			5		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461906	50461906	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:50461906C>T	uc010ybh.2	-	6	1448	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	SIGLEC11_uc010ybi.2_Missense_Mutation_p.V453M	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	453					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)		TCACAGTGCACGGAGAGGCTG	0.652000														69			19		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752614	247752614	+	Splice_Site	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:247752614G>A	uc010pyy.2	+	1	954	c.954_splice	c.e1+1	p.*318_splice		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			aatattttatgattattaaaa	0.323000														40			5		0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449102	16449102	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr22:16449102G>A	uc011agd.2	-	0	703	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TTCAGGACAAGAGTATAGGAT	0.418000														120			75		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83770385	83770385	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:83770385C>T	uc001paj.2	-	5	880	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	DLG2_uc001pai.2_Missense_Mutation_p.E142K|DLG2_uc010rsy.1_Missense_Mutation_p.E160K|DLG2_uc021qof.1_Missense_Mutation_p.E232K|DLG2_uc010rsz.1_Missense_Mutation_p.E193K|DLG2_uc010rta.1_Missense_Mutation_p.E193K|DLG2_uc001pak.2_Missense_Mutation_p.E298K|DLG2_uc010rtb.1_Missense_Mutation_p.E160K|DLG2_uc001pal.1_Missense_Mutation_p.E193K|DLG2_uc001pam.2_Missense_Mutation_p.E232K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	193	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGTTTGATTTCCACAACGGTC	0.448000														38			17		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952571	44952571	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:44952571G>A	uc003coc.4	+	11	1801	c.1728G>A	c.(1726-1728)atG>atA	p.M576I		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	576					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)	AGGAAATCATGGCCTCTGAAG	0.473000														41			7		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558990	140558990	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140558990C>T	uc011dai.2	+	0	1620	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	459	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)			CTCCTACACCCTGTTCGTCCG	0.607000														473			48		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826075	117826075	+	Splice_Site	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:117826075C>T	uc004bjj.4	-	12	4172	c.3760_splice	c.e12+1	p.E1254_splice	TNC_uc010mvf.3_Splice_Site_p.E1254_splice|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1254					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTAGAATACCTGTCAAGACT	0.498000														42			18		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40945466	40945466	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:40945466G>A	uc003jmh.3	+	6	848	c.734G>A	c.(733-735)gGa>gAa	p.G245E	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	245	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATCCATAAAGGAAAGGTTAGT	0.318000														14			6		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515736	140515736	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140515736C>T	uc003liq.3	+	0	937	c.720C>T	c.(718-720)ccC>ccT	p.P240P		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	240	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGCCCCCGAATTTTTAC	0.517000														294			56		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121624065	121624065	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:121624065T>G	uc003vjy.3	+	7	1217	c.822T>G	c.(820-822)taT>taG	p.Y274*	PTPRZ1_uc011knt.2_Nonsense_Mutation_p.Y274*|PTPRZ1_uc003vjz.3_Nonsense_Mutation_p.Y274*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	274	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATCTGGTTATGTCATGCTGA	0.353000														54			18		0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876120	38876120	+	Nonsense_Mutation	SNP	G	T	T	rs141370671		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:38876120G>T	uc002oij.1	-	2	1917	c.1782C>A	c.(1780-1782)tgC>tgA	p.C594*	GGN_uc002oik.1_Non-coding_Transcript|GGN_uc010efy.1_3'UTR	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	594	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				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)			AGTAACACTTGCAGGGACAGG	0.672000														33			10		0.010729	0.0107504	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75650632	75650632	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:75650632G>A	uc004ecm.2	+	0	2587	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	770	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAAGAAAGGAATTCTGTAC	0.488000														62			17		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57340745	57340745	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:57340745G>A	uc001cyo.2	+	2	427	c.295G>A	c.(295-297)Gat>Aat	p.D99N		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	99	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTGTGGACAGGATTTCCAGTG	0.478000														21			8		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100382286	100382286	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:100382286T>C	uc003pqh.1	-	4	1010	c.695A>G	c.(694-696)aAg>aGg	p.K232R	MCHR2_uc003pqi.1_Missense_Mutation_p.K232R	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTGGCATCCTTATTCTGTTG	0.323000														59			18		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52897344	52897344	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:52897344G>A	uc010ugf.2	-	5	2601	c.2467C>T	c.(2467-2469)Ctt>Ttt	p.L823F	FAM214A_uc002acg.4_Missense_Mutation_p.L816F|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.L728F	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	816																	CTTGAAAGAAGAGGCAATCCA	0.338000														52			26		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60767532	60767532	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:60767532G>A	uc002jad.3	+	25	4160	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q	MRC2_uc002jae.3_Missense_Mutation_p.R324Q|MRC2_uc002jaf.3_Missense_Mutation_p.R119Q	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1253					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCTCCTCCCCGAAGAATAAGC	0.642000														43			10		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541246	35541246	+	Splice_Site	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:35541246G>A	uc003xjr.2	+	5	1079	c.751_splice	c.e5+1	p.V251_splice	UNC5D_uc003xjs.2_Splice_Site_p.V246_splice|UNC5D_uc003xjt.1_Splice_Site_p.V20_splice	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	251					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGGTCTACGGTAAGACCATT	0.507000														26			11		0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169477	45169477	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:45169477C>T	uc002run.2	+	0	441	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_005413	NP_005404	O95343	SIX3_HUMAN	Homo sapiens SIX homeobox 3 (SIX3), mRNA.	78					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGAGTTGTCCATGTTCCAGC	0.746000														27			8		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824193	54824193	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:54824193C>T	uc002xxb.2	+	0	406	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	135					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCATCATGATCGCCATCGTCC	0.562000														49			14		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815632	82815632	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:82815632G>A	uc003kii.3	+	6	1863	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E503K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	503	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACATCTATGGAAATCTTAAA	0.393000														78			40		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512843	41512843	+	Missense_Mutation	SNP	C	T	T	rs148377536	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:41512843C>T	uc002opr.1	+	3	525	c.518C>T	c.(517-519)tCc>tTc	p.S173F	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	173					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)	CTCTTCCAGTCCATTACCGCC	0.502000														22			7		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133575	22133575	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:22133575C>T	uc010tmd.2	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGACCATTTCCTTTGACAACT	0.438000														109			49		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107520049	107520049	+	Missense_Mutation	SNP	A	T	T	rs147247035		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:107520049A>T	uc010hpr.3	+	16	2986	c.2659A>T	c.(2659-2661)Act>Tct	p.T887S	BBX_uc003dwk.4_Missense_Mutation_p.T857S|BBX_uc003dwl.4_Silent_p.V550V|BBX_uc003dwm.4_Missense_Mutation_p.T857S|BBX_uc003dwo.4_Silent_p.V203V	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	887					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCGGAGCAGTACTCCAGAAAT	0.537000														36			13		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123954588	123954588	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:123954588G>A	uc001lfv.3	+	7	6228	c.5868G>A	c.(5866-5868)ccG>ccA	p.P1956P	TACC2_uc001lfw.3_Silent_p.P102P|TACC2_uc009xzx.3_Silent_p.P1911P|TACC2_uc010qtv.2_Silent_p.P1960P|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Silent_p.P34P|TACC2_uc001lga.3_Silent_p.P34P|TACC2_uc009xzy.3_Silent_p.P34P|TACC2_uc010qtw.1_Silent_p.P51P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1956	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding	p.P1956L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTGAGACCCCGGAGTCAACGA	0.617000														95			32		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29246029	29246029	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:29246029A>G	uc010ezl.3	+	11	1940	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	FAM179A_uc010ymm.2_Missense_Mutation_p.H475R|FAM179A_uc002rmr.4_Missense_Mutation_p.H57R	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	530							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGAAGCTGCACGACGTGTGC	0.632000														6			4		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000														129			4		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991943	112991943	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:112991943C>T	uc003dzx.3	+	7	1610	c.989C>T	c.(988-990)tCc>tTc	p.S330F	BOC_uc003dzy.3_Missense_Mutation_p.S330F|BOC_uc003dzz.3_Missense_Mutation_p.S330F|BOC_uc003eab.3_Missense_Mutation_p.S31F	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	330	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ATGGAGCTATCCCAGCTGGTC	0.637000														65			15		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409854	159409854	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:159409854C>T	uc010piv.2	+	0	343	c.306C>T	c.(304-306)ccC>ccT	p.P102P	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	102					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.Q101*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGAGCCAGCCCATATCATTGG	0.478000														62			16		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39134399	39134399	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:39134399C>T	uc003jls.3	-	7	1795	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	FYB_uc003jlt.3_Silent_p.L576L|FYB_uc003jlu.3_Silent_p.L576L|FYB_uc011cpl.2_Silent_p.L586L	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	576					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)			AGTCTTTTTTCAGTTTCAAAG	0.358000														66			14		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6680264	6680264	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:6680264G>C	uc002mfm.3	-	35	4423	c.4361C>G	c.(4360-4362)tCt>tGt	p.S1454C		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1454	Properdin-binding.				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)		GTCATCCTCAGAGTGTGAGAC	0.517000														55			3		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54943697	54943697	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:54943697A>T	uc001sgd.2	+	1	434	c.41A>T	c.(40-42)gAg>gTg	p.E14V	PDE1B_uc010soz.2_5'UTR|PDE1B_uc010spa.1_5'Flank	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	14					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATGCTGGAGGAGTCGGATTGC	0.627000														52			5		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163924	150163924	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:150163924C>T	uc003whj.3	+	1	468	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	46						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			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)		AGACAGTGATCAAAATGTGCC	0.483000														156			40		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22910210	22910210	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:22910210C>T	uc002yld.2	+	17	2695	c.2446C>T	c.(2446-2448)Cca>Tca	p.P816S	NCAM2_uc011acb.2_Missense_Mutation_p.P674S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	816					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGCTCTAAATCCAGAAACTAT	0.333000														22			9		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196293	42196293	+	Silent	SNP	C	T	T	rs139239106		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:42196293C>T	uc003ose.2	-	17	4016	c.3453G>A	c.(3451-3453)acG>acA	p.T1151T	TRERF1_uc011duq.1_Silent_p.T1048T|TRERF1_uc003osb.2_Silent_p.T899T|TRERF1_uc003osc.2_Silent_p.T887T|TRERF1_uc003osd.2_Silent_p.T1131T	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1131	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTCTCAATCGTGGCTGCCA	0.582000														294			93		0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41524629	41524629	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:41524629C>T	uc004dfk.4	-	1	180	c.54G>A	c.(52-54)tgG>tgA	p.W18*	CASK_uc004dfl.4_Nonsense_Mutation_p.W203*|CASK_uc004dfm.4_Nonsense_Mutation_p.W203*|CASK_uc004dfn.4_Nonsense_Mutation_p.W203*	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	203	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CACCGCACCCCCAGACGTCTA	0.418000														17			5		0	0	1	0	0
ATOH7	220202	broad.mit.edu	37	10	69991095	69991095	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:69991095C>G	uc001jnq.3	-	0	776	c.340G>C	c.(340-342)Gag>Cag	p.E114Q		NM_145178	NP_660161	Q8N100	ATOH7_HUMAN	Homo sapiens atonal homolog 7 (Drosophila) (ATOH7), mRNA.	114					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CCGAAGTGCTCACAGTGGAGA	0.677000														37			7		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142444979	142444979	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:142444979G>A	uc003ywi.2	-	28	3804	c.3723C>T	c.(3721-3723)ctC>ctT	p.L1241L	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1242							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)			GCAGGTAGCTGAGGGCCTGTG	0.647000														99			24		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37309274	37309274	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:37309274G>A	uc003jku.1	-	23	2842	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	NUP155_uc003jkt.1_Silent_p.S849S|NUP155_uc010iuz.1_Silent_p.S844S	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	908					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACTTGATTGCTAATTTTTT	0.338000														31			7		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106924108	106924108	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:106924108T>A	uc001kyi.1	+	11	2007	c.1780T>A	c.(1780-1782)Tcc>Acc	p.S594T		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	594						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)		TGTGTTCATCTCCTCCGATGG	0.443000														32			10		0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30326527	30326527	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:30326527C>T	uc004dcf.4	-	0	969	c.954G>A	c.(952-954)caG>caA	p.Q318Q		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	318	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGAGGATCTTCTGCAGCATGC	0.672000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			6		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330636	7330636	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:7330636G>A	uc002ggw.3	+	2	1399	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	442						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCTCCCCCGACCATGTTTG	0.642000														32			6		0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17927343	17927343	+	Silent	SNP	G	A	A	rs138662754	by1000genomes	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:17927343G>A	uc003wyn.2	-	3	506	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ASAH1_uc003wyl.2_Silent_p.F87F|ASAH1_uc003wym.2_Silent_p.F87F|ASAH1_uc003wyo.2_Intron	NM_004315	NP_004306	Q13510	ASAH1_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.	87					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CACTTGGCACGAATGTATTTA	0.294000														27			9		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444192	20444192	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:20444192C>T	uc010tkx.2	+	0	515	c.515C>T	c.(514-516)tCa>tTa	p.S172L		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCCTCATTTCATGGTTTGTG	0.443000														85			30		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105178250	105178250	+	Splice_Site	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:105178250G>A	uc004emd.3	+	20	3616	c.3313_splice	c.e20-1	p.E1105_splice	NRK_uc010npc.1_Splice_Site_p.E773_splice	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1105							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTCTTTTAGGAGCCAGGTGG	0.423000										HNSCC(51;0.14)				40			14		0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3143989	3143989	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:3143989G>A	uc002fvf.3	+	0	20	c.20G>A	c.(19-21)aGt>aAt	p.S7N						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		GATAACCAGAGTGAGAACTCA	0.453000														34			6		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207172	58207172	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:58207172G>A	uc010rkh.2	-	0	475	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCAGGAAACCACAGA	0.463000														63			13		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078253	111078253	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:111078253C>T	uc004epl.1	-	6	2711	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	TRPC5_uc004epm.1_Missense_Mutation_p.E598K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	598					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTACAAACTCGGTGAATTCG	0.418000														239			76		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	A	A	rs2781608	by1000genomes	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:17272075G>A	uc001azt.2	+	14	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_uc009voz.1_Missense_Mutation_p.A467T|CROCC_uc001azu.2_Missense_Mutation_p.A7T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(22)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000														33			3		0	0	1	0	0
DPM3	54344	broad.mit.edu	37	1	155112476	155112476	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:155112476C>A	uc001fhm.3	-	0	408	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	DPM3_uc001fhn.3_Missense_Mutation_p.A81S	NM_018973	NP_714963	Q9P2X0	DPM3_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 3 (DPM3), transcript variant 1, mRNA.	81					C-terminal protein lipidation|GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGGCTCGGGCCTCCTGTATC	0.622000														70			14		9.31168e-06	9.36755e-06	1	1	0
ANK3	288	broad.mit.edu	37	10	61832013	61832013	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:61832013G>A	uc001jky.3	-	36	8964	c.8626C>T	c.(8626-8628)Cat>Tat	p.H2876Y	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.	2876					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						CTTACATCATGAACAAGTACA	0.393000														46			11		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631401	9631401	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:9631401G>A	uc010cod.3	+	14	2466	c.2466G>A	c.(2464-2466)aaG>aaA	p.K822K	USP43_uc002gma.4_Silent_p.K511K|USP43_uc010vva.2_Silent_p.K817K|USP43_uc010coe.3_Silent_p.K619K|USP43_uc002gmc.4_Silent_p.K334K	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	822					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						TTGGATCCAAGGAGAAACCAC	0.572000														21			7		0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127697639	127697639	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:127697639A>T	uc009yan.3	+	9	1048	c.944A>T	c.(943-945)aAt>aTt	p.N315I	FANK1_uc001ljh.4_Missense_Mutation_p.N289I|FANK1_uc001lji.3_Missense_Mutation_p.N283I	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	289						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTGTTAAATAATCATGAAGAG	0.458000														40			9		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944924	43944924	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:43944924G>A	uc010skx.2	-	1	241	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	81						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTGAAGCGATAGTGGGTT	0.617000														51			10		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755706	21755706	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:21755706G>A	uc010iuc.2	-	10	2337	c.1879C>T	c.(1879-1881)Ctc>Ttc	p.L627F	CDH12_uc011cno.1_Missense_Mutation_p.L587F|CDH12_uc003jgk.2_Missense_Mutation_p.L627F|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	627					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAACCTAAGAGTATAACAATG	0.393000										HNSCC(59;0.17)				27			10		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61607531	61607531	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr17:61607531C>T	uc002jay.3	+	2	467	c.387C>T	c.(385-387)ttC>ttT	p.F129F	KCNH6_uc002jax.1_Silent_p.F129F|KCNH6_uc010wpl.2_Silent_p.F6F|KCNH6_uc010wpm.2_Silent_p.F129F|KCNH6_uc002jaz.1_Silent_p.F129F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	129	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTCTCAACTTCGAGGACCTGG	0.617000														53			21		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168127630	168127630	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:168127630C>T	uc010jjg.3	-	26	3340	c.2920G>A	c.(2920-2922)Gga>Aga	p.G974R	SLIT3_uc003mab.3_Missense_Mutation_p.G967R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	967	EGF-like 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)			CAGGTGCCTCCATGCTGACAG	0.552000														36			11		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47542827	47542827	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:47542827G>A	uc002zia.1	+	20	1729	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G	COL6A2_uc002zhz.1_Silent_p.G549G|COL6A2_uc002zhy.1_Silent_p.G549G	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	549	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)		GAGAACCTGGGAGGAAAGGAG	0.607000														70			17		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107007371	107007371	+	RNA	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:107007371C>T	uc002tdp.3	+	2		c.220C>T								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		GTGTATCTTTCAGAGTGCAAG	0.453000														29			6		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557853	210557853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:210557853G>A	uc002vde.1	+	6	1207	c.959G>A	c.(958-960)gGa>gAa	p.G320E	MAP2_uc002vdc.1_Missense_Mutation_p.G320E|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.G316E	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	320					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTCAAGGGGGAAGCTTCACT	0.438000														52			21		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717313	73717313	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:73717313A>G	uc002sje.1	+	9	8335	c.8224A>G	c.(8224-8226)Act>Gct	p.T2742A	ALMS1_uc002sjf.1_Missense_Mutation_p.T2700A|ALMS1_uc002sjg.3_Missense_Mutation_p.T2130A|ALMS1_uc002sjh.1_Missense_Mutation_p.T2130A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2742					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						TAGCCAGTGTACTGGAGCATC	0.383000														93			20		0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147790301	147790301	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:147790301G>A	uc003lpf.1	+	8	1186	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	FBXO38_uc003lpg.1_Missense_Mutation_p.G356R|FBXO38_uc003lph.2_Missense_Mutation_p.G356R	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	356						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCATCTAGGATATGTAGA	0.383000														66			14		0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335167	78335167	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:78335167G>T	uc010thy.1	+	5	1170	c.1127G>T	c.(1126-1128)cGc>cTc	p.R376L	SLAIN1_uc001vkk.2_Missense_Mutation_p.R299L|SLAIN1_uc010thz.1_Missense_Mutation_p.R254L|SLAIN1_uc001vkl.1_Missense_Mutation_p.R255L|SLAIN1_uc010aex.1_Missense_Mutation_p.R141L|SLAIN1_uc010aey.1_Missense_Mutation_p.R141L|SLAIN1_uc001vkm.2_Missense_Mutation_p.R255L	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	518										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		ATAATGGGTCGCAGTGCACTC	0.468000														64			13		3.27435e-08	3.31388e-08	1	1	0
CCDC141	285025	broad.mit.edu	37	2	179702423	179702423	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:179702423C>T	uc002une.2	-	22	3641	c.3523G>A	c.(3523-3525)Gag>Aag	p.E1175K	CCDC141_uc002unf.1_Missense_Mutation_p.E654K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	600							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGTAGTCGCTCTTCCCCTGTT	0.488000														97			18		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42355696	42355696	+	Nonsense_Mutation	SNP	C	T	T	rs141103699		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:42355696C>T	uc010xwe.2	+	7	1272	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	DMRTC2_uc002orr.1_3'UTR|DMRTC2_uc002ors.3_Nonsense_Mutation_p.R346*	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	346					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCCCTGTCTTCGACCCAGCCC	0.572000														29			12		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271256	22271256	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:22271256G>A	uc010ecx.3	+	3	873	c.704G>A	c.(703-705)gGa>gAa	p.G235E	ZNF257_uc010ecy.3_Missense_Mutation_p.G203E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G235V(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGAGTGTGGAAAAGCTTTT	0.413000														26			18		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267040	124267040	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:124267040C>T	uc010saj.2	-	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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)		TAACAGAGATCAATGAAGGAG	0.388000														38			14		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000433	41000433	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:41000433C>T	uc003jmj.4	-	38	4861	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M1012I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1457							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GAATGCAGACCATCAAGACAT	0.478000														32			8		0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48895921	48895921	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:48895921G>A	uc004dmb.3	-	3	819	c.581C>T	c.(580-582)gCg>gTg	p.A194V	TFE3_uc004dmc.3_Missense_Mutation_p.A89V|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	194					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGCCGGCGCGCCTGCTGCAG	0.627000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									18			3		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526881	64526881	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:64526881G>A	uc003dmg.3	-	35	5443	c.5411C>T	c.(5410-5412)cCc>cTc	p.P1804L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P1776L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.P715L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1804	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCGTTATAGGGACATTCTGT	0.483000														84			20		0	0	1	0	0
FAM176A	84141	broad.mit.edu	37	2	75720473	75720473	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:75720473C>T	uc002sni.2	-	3	826	c.348G>A	c.(346-348)gaG>gaA	p.E116E	FAM176A_uc002snj.1_Silent_p.E103E|FAM176A_uc002snk.1_Silent_p.E116E	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	116					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		p.A115V(1)		endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						GCTCCAGCTCCTCCGCAGAGG	0.627000														45			14		0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006064	72006064	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:72006064G>A	uc003pfx.1	+	3	608	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	149						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						AGGAGATTATGAAAAACTGGA	0.308000														37			6		0	0	1	0	0
FGFR1OP2	26127	broad.mit.edu	37	12	27113474	27113474	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:27113474C>T	uc001rhm.3	+	4	776	c.423C>T	c.(421-423)tcC>tcT	p.S141S	FGFR1OP2_uc001rhl.3_Silent_p.S141S|FGFR1OP2_uc001rhn.3_Intron	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	Homo sapiens FGFR1 oncogene partner 2 (FGFR1OP2), transcript variant 1, mRNA.	141						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GTAACAAGTCCGAAGGATTCT	0.373000														34			4		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848086	7848086	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr12:7848086C>T	uc001qte.3	-	0	275	c.239G>A	c.(238-240)gGg>gAg	p.G80E		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	80					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.G80E(2)|p.R79C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGTACATTCCCGCGGACGCC	0.493000														49			18		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116130	42116130	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:42116130C>T	uc001zok.4	+	29	4388	c.4102C>T	c.(4102-4104)Ccc>Tcc	p.P1368S	MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Missense_Mutation_p.P1201S|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P1362S|MAPKBP1_uc010bcj.3_Missense_Mutation_p.P869S|MAPKBP1_uc010bck.3_Missense_Mutation_p.P579S|MAPKBP1_uc010bcl.3_Missense_Mutation_p.P869S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1368										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCCAGCAGCCCCTGTGCCCA	0.602000														79			27		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99697662	99697662	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:99697662T>G	uc003usw.1	-	1	596	c.86A>C	c.(85-87)aAg>aCg	p.K29T	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.4_5'Flank|AP4M1_uc003utd.3_5'Flank|AP4M1_uc011kjh.2_5'Flank|AP4M1_uc003ute.4_5'Flank|AP4M1_uc003utf.4_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	29					DNA strand elongation involved in DNA replication|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|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTTGAACTGCTTCTTCCCGAG	0.418000														35			8		0	0	1	0	0
MRPS18A	55168	broad.mit.edu	37	6	43643271	43643271	+	Silent	SNP	G	A	A	rs144606291		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:43643271G>A	uc003owa.2	-	3	369	c.336C>T	c.(334-336)caC>caT	p.H112H	MRPS18A_uc003ovy.2_Silent_p.H112H|MRPS18A_uc003ovz.2_Silent_p.H112H	NM_018135	NP_060605	Q9NVS2	RT18A_HUMAN	Homo sapiens mitochondrial ribosomal protein S18A (MRPS18A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			CGATCTTGCGGTGTTCTTCCT	0.592000														52			15		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167319026	167319026	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:167319026C>T	uc002udu.2	-	8	1086	c.956G>A	c.(955-957)gGa>gAa	p.G319E	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.	319					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						ACACACATATCCTTCAGGACA	0.378000														20			6		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:59283138C>T	uc010rkv.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000														212			58		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600773	147600773	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:147600773C>T	uc003weu.2	+	13	2731	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	739	Fibrinogen C-terminal.				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)			CTGCACAGATCCCAAGTACTA	0.567000										HNSCC(39;0.1)				9			4		0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1842365	1842365	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:1842365C>T	uc010uvn.2	-	1	249	c.168G>A	c.(166-168)gtG>gtA	p.V56V	IGFALS_uc002cmy.3_Silent_p.V18V|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	18	LRRNT.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GGCCCAGTGCCACCCAGGACA	0.741000														15			5		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98341558	98341558	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:98341558G>A	uc002syd.1	+	3	613	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZAP70_uc010yvf.1_Missense_Mutation_p.E136K|ZAP70_uc002sye.1_Missense_Mutation_p.E26K	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	136	Interdomain A.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TTTCTAGGGCGAGGCCCTGGA	0.657000														30			8		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151497296	151497296	+	Silent	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:151497296A>G	uc009wmw.3	+	7	1692	c.1548A>G	c.(1546-1548)gaA>gaG	p.E516E		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	510	Glu-rich.					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)			AGGAGGTGGAACATGTCCGGC	0.617000														25			11		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44610685	44610685	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:44610685C>T	uc002oyh.2	+	5	689	c.372C>T	c.(370-372)ttC>ttT	p.F124F	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	124					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GCTCTCAGTTCTCCAAAGAAG	0.428000														46			18		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39119036	39119036	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:39119036G>A	uc003jls.3	-	13	2270	c.2203C>T	c.(2203-2205)Cta>Tta	p.L735L	FYB_uc003jlt.3_Silent_p.L781L|FYB_uc003jlu.3_Silent_p.L735L|FYB_uc011cpl.2_Silent_p.L791L	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	735					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)			ATAACTTCTAGAGATTCACCA	0.343000														40			11		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114271	117114271	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:117114271G>A	uc003pxj.1	-	5	1837	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	GPRC6A_uc003pxk.1_Silent_p.I430I|GPRC6A_uc003pxl.1_Silent_p.I534I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	605					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAACAAATATGATTCCCAGTA	0.433000														71			12		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184769805	184769805	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:184769805G>A	uc021xik.1	+	46	4367	c.4279G>A	c.(4279-4281)Gag>Aag	p.E1427K	VPS8_uc003fpb.1_Missense_Mutation_p.E1425K|VPS8_uc010hyd.1_Missense_Mutation_p.E1335K|VPS8_uc010hye.1_Missense_Mutation_p.E854K	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1427							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACCTGTGACTGAGGATTGATG	0.587000														30			6		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809386	18809386	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:18809386C>T	uc001bax.3	+	0	1963	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	KLHDC7A_uc009vpg.3_Silent_p.F419F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	637						integral to membrane		p.F637L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAATCTTCGTCACCGGCG	0.716000														11			20		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46661625	46661625	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:46661625G>A	uc003oyj.3	+	0	6014	c.5760G>A	c.(5758-5760)atG>atA	p.M1920I	TDRD6_uc010jze.3_Missense_Mutation_p.M1920I	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1920					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATGACAAGATGGATCCTTTGT	0.453000														58			23		0	0	1	0	0
ABCC6P2	730013	broad.mit.edu	37	16	14916862	14916862	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:14916862T>C	uc002dcu.2	-	1	133	c.100A>G	c.(100-102)Aca>Gca	p.T34A						Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 2 (ABCC6P2), non-coding RNA.																		ACCCCTGCTGTTCTCAGGAAG	0.602000														48			11		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103901068	103901068	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:103901068C>T	uc001kum.3	+	4	2842	c.2803C>T	c.(2803-2805)Cct>Tct	p.P935S	PPRC1_uc001kun.3_Missense_Mutation_p.P815S|PPRC1_uc010qqj.2_Missense_Mutation_p.P935S|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	935	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCTGGCTATCCTTGCCTGCC	0.592000														71			17		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474077	149474077	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:149474077C>T	uc010lpk.3	+	2	287	c.287C>T	c.(286-288)cCa>cTa	p.P96L	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	96	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTGTTGCCCAGGCTGGGGG	0.622000														50			23		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006663	8006663	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:8006663G>A	uc010qbd.2	+	2	1190	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	397					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GTGATTGCACGAGCCTGTGCT	0.488000														85			26		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128859995	128859995	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:128859995C>T	uc010qun.2	+	22	2464	c.2400C>T	c.(2398-2400)atC>atT	p.I800I	DOCK1_uc001ljt.3_Silent_p.I779I	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	779					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCAGGTCCATCAATGACATGA	0.502000														5			3		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27454357	27454357	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:27454357G>A	uc002dor.2	+	5	1041	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	IL21R_uc002doq.2_Missense_Mutation_p.E143K|IL21R_uc002dos.2_Missense_Mutation_p.E143K	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	143	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.E143K(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTCAGATTACGAAGACCCTGC	0.532000			T	BCL6	NHL									76			20		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	137990286	137990287	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:137990286_137990287AC>TT	uc010nar.3	+	3	630_631	c.611_612AC>TT	c.(610-612)tac>tTT	p.Y204F	OLFM1_uc004cfl.4_Missense_Mutation_p.Y186F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	204					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GCCTATGACTACGATGAACTTC	0.505000														39			15		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670013	1670013	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:1670013G>A	uc002qxa.3	-	9	1328	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	PXDN_uc002qxb.1_Missense_Mutation_p.H422Y|PXDN_uc002qxc.1_Missense_Mutation_p.H239Y	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	422	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCGGTGGCATGGACGCTGTCA	0.592000														47			12		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979587	12979587	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:12979587G>A	uc002mvm.3	+	20	2825	c.2697G>A	c.(2695-2697)gaG>gaA	p.E899E		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	899					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGGCAGTAGAGAAGAGGCCTT	0.587000														84			60		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15535805	15535805	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr21:15535805C>T	uc002yjm.3	-	6	1014	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.R284K|LIPI_uc021whh.1_Missense_Mutation_p.R314K|LIPI_uc021whi.1_Missense_Mutation_p.R149K|LIPI_uc021whj.1_Missense_Mutation_p.R314K|LIPI_uc021whe.1_Missense_Mutation_p.R279K|LIPI_uc021whf.1_Missense_Mutation_p.R314K	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	314					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.R335W(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCCTTCCATCCTTTCTTTTAA	0.299000														45			13		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48717534	48717534	+	Silent	SNP	C	T	T	rs36096532		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:48717534C>T	uc003cun.3	-	5	1315	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	NCKIPSD_uc003cum.3_Silent_p.E400E	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	407					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATGACACCCTCATCCTCAT	0.602000														53			15		0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94409668	94409668	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:94409668T>A	uc001kic.3	+	19	3155	c.2847T>A	c.(2845-2847)gaT>gaA	p.D949E		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	949					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTCCTTGATCAGCTGAAAA	0.373000														36			6		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802590	35802590	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr9:35802590C>T	uc003zyd.3	+	10	1801	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	NPR2_uc010mlb.3_Missense_Mutation_p.R601C	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	601	Protein kinase.				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			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)	ATACTGTCCTCGTGGGAGTTT	0.488000														29			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059200	9059200	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:9059200G>A	uc002mkp.3	-	2	28450	c.28246C>T	c.(28246-28248)Cct>Tct	p.P9416S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9418	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						ACATCCTCAGGACCTCTGCTC	0.507000														76			33		0	0	1	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359063	103359063	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:103359063G>A	uc011msh.2	+	2	1577	c.261G>A	c.(259-261)atG>atA	p.M87I	SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA.	87							nucleic acid binding|zinc ion binding										AGCGCTTGATGAAAACACTTA	0.512000														44			20		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103704997	103704997	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr13:103704997C>T	uc001vpy.4	-	2	1155	c.558G>A	c.(556-558)tgG>tgA	p.W186*		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	186					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTTTTGGGGCCATTTGTGAT	0.388000														38			10		0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823914	70823914	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:70823914G>A	uc004eae.2	+	7	1288	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	263	Asp/Ser-rich.					nucleus		p.E263Q(2)		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)					TGATGATTCGGAAGCTCCCGA	0.547000														202			38		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658103	142658103	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:142658103G>A	uc003wcb.3	-	3	522	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	104					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)					AGGCAAAGCTGAAGAAGTCGG	0.512000														81			22		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219513971	219513972	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:219513971_219513972GT>AA	uc002vin.3	-	5	1095_1096	c.659_660AC>TT	c.(658-660)cac>cTT	p.H220L	ZNF142_uc002vil.3_Missense_Mutation_p.H181L|ZNF142_uc010fvt.3_Missense_Mutation_p.H57L|ZNF142_uc002vim.3_Missense_Mutation_p.H57L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACAGTGGGCAGTGGTGGGCCTT	0.554000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			10		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463396	26463396	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr10:26463396G>A	uc001isn.2	+	29	4563	c.4203G>A	c.(4201-4203)gaG>gaA	p.E1401E	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1401					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.E1401D(2)|p.H1400Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAAACATGAGGAAATCAATA	0.358000														69			18		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8401376	8401376	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:8401376G>A	uc010idk.3	-	7	925	c.780C>T	c.(778-780)ttC>ttT	p.F260F	ACOX3_uc003glc.4_Silent_p.F260F|ACOX3_uc003gld.4_Silent_p.F260F	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	260					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.F260F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGAACATGGCGAAACTGTGGG	0.577000														41			12		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216515	20216515	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:20216515C>T	uc010tkt.2	+	0	929	c.929C>T	c.(928-930)cCa>cTa	p.P310L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCATTCCATTGCCTTGT	0.393000														40			11		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422541	57422541	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:57422541C>T	uc001cyp.3	-	2	359	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	C8B_uc010oon.2_Missense_Mutation_p.E36K|C8B_uc010ooo.2_Missense_Mutation_p.E46K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	98	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G97W(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTGCACGGTTCCCCATGGAAC	0.522000														121			40		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681153	55681153	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:55681153T>A	uc010rir.2	-	0	906	c.906A>T	c.(904-906)aaA>aaT	p.K302N		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ttttCAGTTTTTTCAGGGCCT	0.308000														15			4		0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														18			3		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52646082	52646083	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:52646082_52646083GG>AA	uc002aby.2	-	25	3796_3797	c.3552_3553CC>TT	c.(3550-3555)ctccgc>ctTTgc	p.R1185C	MYO5A_uc002abx.3_Missense_Mutation_p.R1185C|MYO5A_uc010ugd.1_5'Flank|MYO5A_uc002aca.1_5'Flank|MYO5A_uc002acb.1_5'Flank|MYO5A_uc002acc.1_5'Flank	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1185					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCTTGCTGCGGAGCACCTGCT	0.574000														69			29		0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000														17			3		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708430	12708431	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrX:12708430_12708431GG>AA	uc004cuz.2	+	7	1304_1305	c.798_799GG>AA	c.(796-801)caggag>caAAag	p.E267K	FRMPD4_uc011mij.2_Missense_Mutation_p.E259K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	267	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTCATGAACAGGAGACTCTAAC	0.500000														75			17		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810245	68810245	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:68810245C>T	uc003hdr.1	-	2	365	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.E82K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	82	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T81T(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ACCAAATTTTCGGTCGTCTCT	0.343000														69			4		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661241	8661241	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:8661241C>T	uc002mkj.1	-	9	1414	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ADAMTS10_uc002mkk.1_Silent_p.E12E	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	380	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						GGCCAATGTCCTCATTGACGC	0.667000														12			12		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr4:77288529C>T	uc003hkb.4	-	10	1901	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458000														45			7		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61713053	61713053	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr8:61713053C>T	uc003xue.3	+	4	2837	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	782					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.556_871dup(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGAGGGATTCCCCCTCCAAC	0.483000														26			5		0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28515210	28515211	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr16:28515210_28515211CC>TT	uc002dqc.3	-	1	215_216	c.192_193GG>AA	c.(190-195)caggcc>caAAcc	p.A65T	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	65					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						AAGCGGTGGGCCTGGCCCCGAA	0.668000														50			9		0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689971	74689971	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:74689971C>T	uc010ffj.3	-	3	1108	c.945G>A	c.(943-945)ggG>ggA	p.G315G	MOGS_uc010ffh.3_Silent_p.G40G|MOGS_uc010yrt.2_Silent_p.G196G|MOGS_uc010ffi.3_Silent_p.G209G	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	315					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACTGCCCCTGCCCTTGCCCAC	0.572000														148			39		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73066620	73066620	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr11:73066620G>A	uc001otu.3	+	3	3517	c.3496G>A	c.(3496-3498)Gat>Aat	p.D1166N		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1166	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.I1165I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCCTATATCGATAACTTCCT	0.552000														28			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755365	140755365	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140755365C>T	uc003ljy.2	+	0	1715	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	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_uc011dau.2_Missense_Mutation_p.S572F	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	574	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S572F(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)			ACAGACGGTTCCACTGGCGTG	0.657000														247			75		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751443	26751443	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:26751443A>G	uc003cdp.3	+	1	869	c.280A>G	c.(280-282)Aac>Gac	p.N94D	LRRC3B_uc003cdq.3_Missense_Mutation_p.N94D|LRRC3B_uc021wuj.1_Missense_Mutation_p.N94D	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	94						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAGAGTTCTCAACCTGTCCAA	0.423000														34			8		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286310	223286310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:223286310G>A	uc021pjl.1	-	0	64	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TLR5_uc001hnv.2_Missense_Mutation_p.P22S|TLR5_uc001hnw.2_Missense_Mutation_p.P22S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	22					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)		GAGCAGGAAGGAATTCCAAAC	0.537000														54			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13780949	13780949	+	Silent	SNP	G	A	A	rs144001451		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:13780949G>A	uc003jfd.2	-	52	8982	c.8940C>T	c.(8938-8940)atC>atT	p.I2980I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2980	AAA 4 (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)					TCGTCAGAGTGATCTGGAAGG	0.483000									Kartagener syndrome					23			10		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16529044	16529044	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:16529044G>A	uc001ayc.1	-	12	2070	c.1933C>T	c.(1933-1935)Cat>Tat	p.H645Y	ARHGEF19_uc009voo.1_Intron	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	645	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTTGGCATGGACGAAAACG	0.667000														87			16		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	804	804	+	RNA	SNP	A	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chrGL000237.1:804A>T	uc011mgu.1	-	1		c.414T>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		CCACCCTCCAAGGATCCTACC	0.592000														15			3		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														50			4		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323624	152323624	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:152323624G>A	uc001ezw.4	-	2	6711	c.6638C>T	c.(6637-6639)tCc>tTc	p.S2213F	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2213							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)			ATGACCTGAGGATCCTGACTG	0.532000														335			77		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73636093	73636093	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:73636093G>A	uc002avp.3	-	1	1836	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	281					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GATGCCCACAGGAATGATAAT	0.507000														68			14		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79181133	79181133	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr14:79181133C>T	uc001xun.3	+	4	1067	c.576C>T	c.(574-576)ttC>ttT	p.F192F	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.F326F	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	198	Laminin G-like.				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)		GCACGCCATTCACCGCCAGTG	0.557000														123			40		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248790	140248790	+	Silent	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr5:140248790C>T	uc003lia.2	+	0	960	c.102C>T	c.(100-102)tcC>tcT	p.S34S	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.S34S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), 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)			TCCACTACTCCGTCTCGGAGG	0.647000														108			53		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148106514	148106514	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr7:148106514A>C	uc003weu.2	+	22	4263	c.3747A>C	c.(3745-3747)caA>caC	p.Q1249H	CNTNAP2_uc003wev.2_Missense_Mutation_p.Q26H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1249					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)			ATCCAGGACAAGGCCAAGCTA	0.408000										HNSCC(39;0.1)				34			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435608	179435608	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:179435608C>T	uc021vsy.1	-	274	67772	c.67547G>A	c.(67546-67548)cGa>cAa	p.R22516Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16211Q|TTN_uc021vta.1_Missense_Mutation_p.R16144Q|TTN_uc021vtb.1_Missense_Mutation_p.R16019Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23443	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R16211Q(1)|p.R16144Q(1)|p.R22514Q(1)|p.R16019Q(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)			TGCGGCATTTCGGGCTATAAC	0.428000														89			25		0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271337	26271337	+	Silent	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr6:26271337G>A	uc003nhi.3	-	0	276	c.276C>T	c.(274-276)gcC>gcT	p.A92A	BC079832_uc003nhj.3_5'Flank|HIST1H2BI_uc003nhk.3_5'Flank	NM_003534	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3g (HIST1H3G), mRNA.	92					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCCTGCAGGGCCATCACCG	0.562000														130			29		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206380	49206380	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr19:49206380G>A	uc002pke.4	+	1	278	c.167G>A	c.(166-168)gGa>gAa	p.G56E	FUT2_uc010emc.3_Missense_Mutation_p.G56E|FUT2_uc021uwx.1_Missense_Mutation_p.G56E	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	56					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AAGGCACTGGGACCCAGCCAG	0.562000														41			10		0	0	1	0	0
HIST2H2BC	337873	broad.mit.edu	37	1	149821913	149821916	+	Frame_Shift_Del	DEL	GGAG	-	-			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:149821913_149821916delGGAG	uc021oxz.1	-	0	425_428	c.425_428delCTCC	c.(424-429)cctccgfs	p.P142fs	HIST2H2AA3_uc001esx.3_5'Flank|HIST2H3C_uc001esy.3_5'Flank					Homo sapiens histone cluster 2, H2bc (HIST2H2BC), non-coding RNA.																		GGCGACCCGCggagggagggaggg	0.593													---	3	---	---	3	---					
OPN3	23596	broad.mit.edu	37	1	241803453	241803453	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr1:241803453delA	uc001hza.3	-	0	249	c.104delT	c.(103-105)ctcfs	p.L35fs	OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Non-coding_Transcript	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	35					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GGGGCTGAAGAGGGGCGCGGG	0.741													---	10	---	---	5	---					
ABCB11	8647	broad.mit.edu	37	2	169801425	169801425	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr2:169801425delC	uc002ueo.1	-	19	2516	c.2390delG	c.(2389-2391)ggtfs	p.G797fs	ABCB11_uc010zda.1_Frame_Shift_Del_p.G239fs|ABCB11_uc010zdb.1_Frame_Shift_Del_p.G273fs	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	797	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TAGGCACACACCATTGATCTG	0.303													---	4	---	---	2	---					
TTC21A	199223	broad.mit.edu	37	3	39166640	39166665	+	Splice_Site	DEL	GGGAAGTCTGAGGTCAGAGCTCCCTG	-	-			TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr3:39166640_39166665delGGGAAGTCTGAGGTCAGAGCTCCCTG	uc003cjc.2	+	10	1392	c.1215_splice	c.e10+1	p.E405_splice	TTC21A_uc011ayx.1_Splice_Site_p.E356_splice|TTC21A_uc003cjd.2_Splice_Site	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	405							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAAGTCCCTTGGGAAGTCTGAGGTCAGAGCTCCCTGGGGGTATGGG	0.535											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	60	---	---	7	---					
CD276	80381	broad.mit.edu	37	15	73996577	73996577	+	Frame_Shift_Del	DEL	C	-	-	rs145827704	byFrequency	TCGA-EB-A551-01A-21D-A27K-08	TCGA-EB-A551-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a59bf92-d453-4be0-83a5-8d39371aa082	e9dbd6d4-ec87-497d-bf2d-155e41958723	g.chr15:73996577delC	uc002avv.1	+	5	1367	c.1133delC	c.(1132-1134)acgfs	p.T378fs	CD276_uc010bjd.1_Frame_Shift_Del_p.T232fs|CD276_uc002avu.1_Frame_Shift_Del_p.T378fs|CD276_uc002avw.1_Frame_Shift_Del_p.T160fs|CD276_uc010ulb.1_Frame_Shift_Del_p.T324fs	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	378	Ig-like C2-type 2.		T -> M (in dbSNP:rs11574479).		T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CCAGGGGACACGGTGACCATC	0.652													---	32	---	---	13	---